Items where Subject is "Great Ormond Street Hospital for Children NHS Foundation Trust"
- UCL Eprints (16732)
- UCL Partners (8131)
- Great Ormond Street Hospital for Children NHS Foundation Trust (2367)
- UCL Partners (8131)
Number of items at this level: 2367.
A
Abbouda, A;
Avogaro, F;
Moosajee, M;
Vingolo, EM;
(2021)
Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies.
Medicina
, 57
(1)
, Article 64. 10.3390/medicina57010064.
|
 |
|
Abdel-Mannan, O;
Absoud, M;
Benetou, C;
Hickson, H;
Hemingway, C;
Lim, M;
Wright, S;
... UK Childhood Neuroinflammatory Disorders Network; + view all
(2021)
Incidence of paediatric multiple sclerosis and other acquired demyelinating syndromes: 10-year follow-up surveillance study.
Developmental Medicine & Child Neurology
10.1111/dmcn.15098.
(In press).
|
|
Abdel-Mannan, O;
Hacohen, Y;
(2021)
Aquaporin-4 antibody neuromyelitis optica spectrum disorder: A paraneoplastic disease?
Multiple Sclerosis Journal
10.1177/13524585211039755.
(In press).
|
|
Abdel-Mannan, Omar;
Champsas, Dimitrios;
Tur, Carmen;
Lee, Vanessa;
Manivannan, Sharmila;
Usman, Haroon;
Skippen, Alison;
... UK-Childhood Neuroinflammatory Disease Network; + view all
(2023)
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2023-332542.
(In press).
|
|
Abdel-Mannan, O;
Cortese, R;
Wassmer, E;
Hemingway, C;
Thompson, A;
Brownlee, W;
Ciccarelli, O;
(2020)
Primary progressive multiple sclerosis presenting under the age of 18 years: fact or fiction?
Multiple Sclerosis Journal
(In press).
|
|
|
Abdel-Mannan, O;
Eyre, M;
Löbel, U;
Bamford, A;
Eltze, C;
Hameed, B;
Hemingway, C;
(2020)
Neurologic and Radiographic Findings Associated With COVID-19 Infection in Children.
JAMA Neurology
, 77
(11)
pp. 1440-1445.
10.1001/jamaneurol.2020.2687.
|
|
Abdel-Mannan, O;
Sutcliffe, AG;
(2020)
A national surveillance study of childhood epilepsy mortality in the UK and Ireland.
European Journal of Neurology
, 27
(2)
pp. 327-333.
10.1111/ene.14081.
|
|
Abdel-Mannan, O;
Taylor, H;
Donner, EJ;
Sutcliffe, AG;
(2019)
A systematic review of sudden unexpected death in epilepsy (SUDEP) in childhood.
Epilepsy & Behavior
, 90
pp. 99-106.
10.1016/j.yebeh.2018.11.006.
|
|
Abdel-Mannan, OA;
Manchoon, C;
Rossor, T;
Southin, J-C;
Tur, C;
Brownlee, W;
Byrne, S;
... UK-Childhood Inflammatory Disease Network, .; + view all
(2021)
Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom.
Neurology: Neuroimmunology and NeuroInflammation
, 8
(4)
10.1212/NXI.0000000000001008.
|
|
|
Abdelrazeq, S;
Ray, S;
Rogers, L;
Inwald, DP;
Noren, DP;
Peters, MJ;
(2018)
Age-associated blood pressure distributions in paediatric intensive care units differ from healthy children.
[Letter].
Intensive Care Medicine
, 44
(3)
pp. 384-386.
10.1007/s00134-017-5017-4.
|
|
Abdul-Razak, HH;
Rocca, CJ;
Howe, SJ;
Alonso-Ferrero, ME;
Wang, J;
Gabriel, R;
Bartholomae, CC;
... Yanez-Munoz, RJ; + view all
(2018)
Molecular Evidence of Genome Editing in a Mouse Model of Immunodeficiency.
Scientific Reports
, 8
, Article 8214. 10.1038/s41598-018-26439-9.
|
|
Abela, Lucia;
Gianfrancesco, Lorita;
Tagliatti, Erica;
Rossignoli, Giada;
Barwick, Katy;
Zourray, Clara;
Reid, Kimberley M;
... Kurian, Manju A; + view all
(2024)
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
, Article awae020. 10.1093/brain/awae020.
(In press).
|
 |
|
Abou Neel, EA;
Hossain, KMZ;
Abuelenain, DA;
Abuhaimed, T;
Ahmed, I;
Valappil, SP;
Knowles, JC;
(2021)
Antibacterial effect of titanium dioxide-doped phosphate glass microspheres filled total-etch dental adhesive on S. mutans biofilm.
International Journal of Adhesion and Adhesives
, 108
, Article 102886. 10.1016/j.ijadhadh.2021.102886.
|
|
Abraham, A;
Nicholson, L;
Dick, A;
Rice, C;
Atan, D;
(2021)
Intermediate uveitis associated with MS: Diagnosis, clinical features, pathogenic mechanisms, and recommendations for management.
Neurology: Neuroimmunology & NeuroInflammation
, 8
(1)
, Article e909. 10.1212/NXI.0000000000000909.
|
|
|
Absalom, NL;
Liao, VWY;
Kothur, K;
Indurthi, DC;
Bennetts, B;
Troedson, C;
Mohammad, SS;
... Chebib, M; + view all
(2020)
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Brain Communications
, 2
(2)
fcaa162.
10.1093/braincomms/fcaa162.
|
|
|
Adalat, S;
Hayes, WN;
Bryant, WA;
Booth, J;
Woolf, AS;
Kleta, R;
Subtil, S;
... Bockenhauer, D; + view all
(2019)
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Kidney International Reports
, 4
(9)
pp. 1304-1311.
10.1016/j.ekir.2019.05.019.
|
|
|
Adams, SP;
Gravett, E;
Kent, N;
Kricke, S;
Ifederu, A;
Scoto, M;
Samsuddin, S;
(2021)
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.
International Journal of Neonatal Screening
, 7
(4)
, Article 69. 10.3390/ijns7040069.
|
|
|
Adler, S;
Blackwood, M;
Northam, GB;
Gunny, R;
Hong, SJ;
Bernhardt, BC;
Bernasconi, A;
... Baldeweg, T; + view all
(2018)
Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis.
Annals of Clinical and Translational Neurology
, 5
(10)
pp. 1200-1210.
10.1002/acn3.634.
|
|
|
Admiraal, R;
Jol-van der Zijde, CM;
Furtado Silva, JM;
Knibbe, CAJ;
Lankester, AC;
Boelens, JJ;
Hale, G;
... Bredius, RGM; + view all
(2019)
Population Pharmacokinetics of Alemtuzumab (Campath) in Pediatric Hematopoietic Cell Transplantation: Towards Individualized Dosing to Improve Outcome.
Clinical Pharmacokinetics
, 58
pp. 1609-1620.
10.1007/s40262-019-00782-0.
|
|
Agrawal, D;
Dritsakis, G;
Mahon, M;
Mountjoy, A;
Bamiou, DE;
(2021)
Experiences of Patients With Auditory Processing Disorder in Getting Support in Health, Education, and Work Settings: Findings From an Online Survey.
Frontiers in Neurology
, 12
, Article 607907. 10.3389/fneur.2021.607907.
|
|
|
Aguti, S;
Bolduc, V;
Ala, P;
Turmaine, M;
Bönnemann, CG;
Muntoni, F;
Zhou, H;
(2020)
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Molecular Therapy - Nucleic Acids
, 21
pp. 205-216.
10.1016/j.omtn.2020.05.029.
|
|
|
Agyeman, Akosua A;
You, Tao;
Chan, Phylinda LS;
Lonsdale, Dagan O;
Hadjichrysanthou, Christoforos;
Mahungu, Tabitha;
Wey, Emmanuel Q;
... Standing, Joseph F; + view all
(2022)
Comparative assessment of viral dynamic models for SARS-CoV-2 for pharmacodynamic assessment in early treatment trials.
British Journal of Clinical Pharmacology
, 88
(12)
pp. 5428-5433.
10.1111/bcp.15518.
|
|
Ahmad, MA;
Watananirun, K;
De Bie, F;
Page, AS;
De Coppi, P;
Vergote, S;
Vercauteren, T;
... Deprest, J; + view all
(2024)
High-fidelity, low-cost synthetic training model for fetoscopic spina bifida repair.
American Journal of Obstetrics and Gynecology MFM
, 6
(3)
, Article 101278. 10.1016/j.ajogmf.2024.101278.
|
|
Ajami, S;
Rodriguez-Florez, N;
Ong, J;
Jeelani, NUO;
Dunaway, D;
James, G;
Angullia, F;
... Borghi, A; + view all
(2022)
Mechanical and morphological properties of parietal bone in patients with sagittal craniosynostosis.
Journal of the Mechanical Behavior of Biomedical Materials
, 125
, Article 104929. 10.1016/j.jmbbm.2021.104929.
|
|
Akbarali, S;
Rahi, JS;
Dick, AD;
Parkash, K;
Etherton, K;
Edelsten, C;
Liu, X;
(2021)
Imaging based uveitis surveillance in juvenile idiopathic arthritis: feasibility, acceptability and diagnostic performance.
Arthritis & Rheumatology
, 73
(2)
pp. 330-335.
10.1002/art.41530.
|
|
Akin, L;
Rizzoti, K;
Gregory, LC;
Corredor, B;
Le Quesne Stabej, P;
Williams, H;
Buonocore, F;
... Dattani, MT; + view all
(2022)
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genetics in Medicine
, 24
(2)
pp. 384-397.
10.1016/j.gim.2021.09.019.
|
|
|
Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of Clinical Investigation
, 128
(4)
pp. 1496-1508.
10.1172/JCI98589.
|
|
|
AlBloushi, AF;
Solebo, AL;
Gokhale, E;
Al-Hayouti, H;
Ajamil-Rodanes, S;
Petrushkin, H;
(2022)
Long Term Outcomes of Pediatric Idiopathic Intermediate Uveitis.
American Journal of Ophthalmology
, 237
pp. 41-48.
10.1016/j.ajo.2021.11.003.
|
|
Aldape, K;
Brindle, KM;
Chesler, L;
Chopra, R;
Gajjar, A;
Gilbert, MR;
Gottardo, N;
... Gilbertson, RJ; + view all
(2019)
Reply to 'Assembling the brain trust: the multidisciplinary imperative in neuro-oncology'.
[Letter].
Nature Reviews Clinical Oncology
, 16
pp. 522-523.
10.1038/s41571-019-0236-y.
|
|
Aldape, K;
Brindle, KM;
Chesler, L;
Chopra, R;
Gajjar, A;
Gilbert, MR;
Gottardo, N;
... Gilbertson, RJ; + view all
(2019)
Challenges to curing primary brain tumours.
Nature Reviews Clinical Oncology
10.1038/s41571-019-0177-5.
(In press).
|
|
|
Alderson, Priscilla;
Bellsham-Revell, Hannah;
Dedieu, Nathalie;
King, Liz;
Mendizabal, Rosa;
Sutcliffe, Katy;
(2022)
Children's understanding and consent to heart surgery: Multidisciplinary teamwork and moral experiences.
Journal of Child Health Care
10.1177/13674935221100419.
(In press).
|
|
Alderson, Priscilla;
Cohen, Marc;
Davies, Ben;
Elliott, Martin J;
Johnson, Mae;
Lotteria, Alessandra;
Mendizabal, Rosa;
... Wellesley, Hugo; + view all
(2022)
The involvement and autonomy of young children undergoing elective paediatric cardiac surgery: a qualitative study.
Journal of Cardiothoracic Surgery
, 17
, Article 136. 10.1186/s13019-022-01889-5.
|
|
Alderson, LM;
Joksaite, SX;
Kemp, J;
Main, E;
Watson, T;
Platt, FM;
Cortina-Borja, M;
(2019)
Age-related gait standards for healthy children and young people: the GOS-ICH paediatric gait centiles.
Archives of Disease in Childhood
, 104
(8)
pp. 755-760.
10.1136/archdischild-2018-316311.
|
|
Alkhidir, AAI;
Holland, MJ;
Elhag, WI;
Williams, CA;
Breuer, J;
Elemam, AE;
El Hussain, KMK;
... Pickering, H; + view all
(2019)
Whole-genome sequencing of ocular Chlamydia trachomatis isolates from Gadarif State, Sudan.
Parasites and Vectors
, 12
, Article 518. 10.1186/s13071-019-3770-7.
|
|
|
Allen, Lucy;
Allen, Lorna;
Carr, Siobhan B;
Davies, Gwyneth;
Downey, Damian;
Egan, Marie;
Forton, Julian T;
... Davies, Jane C; + view all
(2023)
Future therapies for cystic fibrosis.
Nature Communications
, 14
(1)
, Article 693. 10.1038/s41467-023-36244-2.
|
|
Allin, BSR;
Hall, NJ;
Ross, AR;
Marven, SS;
Kurinczuk, JJ;
Knight, M;
Caven, C;
... Wright, N; + view all
(2019)
Development of a gastroschisis core outcome set.
Archives of Disease in Childhood- Fetal and Neonatal Edition
, 104
(1)
F76-F82.
10.1136/archdischild-2017-314560.
|
|
|
Almossawi, Ofran;
Friend, Amanda;
Palla, Luigi;
Feltbower, Richard G;
Sardo-Infiri, Sofia;
O'Brien, Scott;
Harron, Katie;
... De Stavola, Bianca; + view all
(2023)
Is there a sex difference in mortality rates in paediatric intensive care units?: a systematic review.
Frontiers in Pediatrics
, 11
, Article 1225684. 10.3389/fped.2023.1225684.
|
|
|
Alrubayyi, A;
Gea-Mallorquí, E;
Touizer, E;
Hameiri-Bowen, D;
Kopycinski, J;
Charlton, B;
Fisher-Pearson, N;
... Peppa, D; + view all
(2021)
Characterization of humoral and SARS-CoV-2 specific T cell responses in people living with HIV.
Nature Communications
, 12
(1)
, Article 5839. 10.1038/s41467-021-26137-7.
|
|
|
Alvarez, I;
Smittenaar, R;
Handley, SE;
Liasis, A;
Sereno, MI;
Schwarzkopf, DS;
Clark, CA;
(2020)
Altered visual population receptive fields in human albinism.
Cortex
, 128
pp. 107-123.
10.1016/j.cortex.2020.03.016.
|
|
Alves, CAPF;
Löbel, U;
Martin-Saavedra, JS;
Toescu, S;
Tsunemi, MH;
Teixeira, SR;
Mankad, K;
... D'Arco, F; + view all
(2021)
A Diagnostic Algorithm for Posterior Fossa Tumors in Children: A Validation Study.
American Journal of Neuroradiology
, 42
(5)
pp. 961-968.
10.3174/ajnr.A7057.
|
|
Alves, CAPF;
Sherbini, O;
D'Arco, F;
Steel, D;
Kurian, MA;
Radio, FC;
Ferrero, GB;
... Vanderver, A; + view all
(2022)
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
American Journal of Neuroradiology
, 43
(7)
pp. 1048-1053.
10.3174/ajnr.A7555.
|
|
|
Ambrosino, D;
Han, HH;
Hu, B;
Liang, J;
Clemens, R;
Johnson, M;
Siber, G;
(2021)
Immunogenicity of SCB-2019 Coronavirus Disease 2019 Vaccine Compared With 4 Approved Vaccines.
The Journal of Infectious Diseases
, Article jiab574. 10.1093/infdis/jiab574.
(In press).
|
|
|
Amin, S;
Mallick, AA;
Edwards, H;
Cortina-Borja, M;
Laugharne, M;
Likeman, M;
O'Callaghan, FJK;
(2021)
The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial.
EClinicalMedicine
, Article 100715. 10.1016/j.eclinm.2020.100715.
(In press).
|
|
|
Amor, F;
Vu Hong, A;
Corre, G;
Sanson, M;
Suel, L;
Blaie, S;
Servais, L;
... Israeli, D; + view all
(2021)
Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
, 12
(3)
pp. 677-693.
10.1002/jcsm.12708.
|
|
|
Ampartzidis, Ioakeim;
Efstathiou, Christoforos;
Paonessa, Francesco;
Thompson, Elliott M;
Wilson, Tyler;
McCann, Conor J;
Greene, Nicholas DE;
... Galea, Gabriel L; + view all
(2023)
Synchronisation of apical constriction and cell cycle progression is a conserved behaviour of pseudostratified neuroepithelia informed by their tissue geometry.
Developmental Biology
, 494
pp. 60-70.
10.1016/j.ydbio.2022.12.002.
|
|
Anakor, E;
Le Gall, L;
Dumonceaux, J;
Duddy, WJ;
Duguez, S;
(2021)
Exosomes in ageing and motor neurone disease: Biogenesis, uptake mechanisms, modifications in disease and uses in the development of biomarkers and therapeutics.
Cells
, 10
(11)
, Article 2930. 10.3390/cells10112930.
|
|
|
Anakor, Ekene;
Milla, Vanessa;
Connolly, Owen;
Martinat, Cecile;
Pradat, Pierre Francois;
Dumonceaux, Julie;
Duddy, William;
(2022)
The Neurotoxicity of Vesicles Secreted by ALS Patient Myotubes Is Specific to Exosome-Like and Not Larger Subtypes.
Cells
, 11
(5)
, Article 845. 10.3390/cells11050845.
|
|
Anderson, Nathaniel D;
Birch, Jack;
Accogli, Theo;
Criado, Ignacio;
Khabirova, Eleonora;
Parks, Conor;
Wood, Yvette;
... Ghorashian, Sara; + view all
(2023)
Transcriptional signatures associated with persisting CD19 CAR-T cells in children with leukemia.
Nature Medicine
10.1038/s41591-023-02415-3.
(In press).
|
|
Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID-19 in children: Part 1.
Clinical and Experimental Dermatology
, 46
(3)
pp. 444-450.
10.1111/ced.14481.
|
|
Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 2.
Clinical and Experimental Dermatology
, 46
(3)
pp. 451-461.
10.1111/ced.14482.
|
|
Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 3.
Clinical and Experimental Dermatology
, 46
(3)
pp. 462-472.
10.1111/ced.14483.
|
|
Angelova, PR;
Choil, ML;
Berezhnov, A;
Horrocks, MH;
Hughes, CD;
De, S;
Rodrigues, M;
... Gandhi, S; + view all
(2020)
Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation.
Cell Death & Differentiation
, 27
pp. 2781-2796.
10.1038/s41418-020-0542-z.
|
|
|
Anguita, R;
Downie, C;
Ferro Desideri, L;
Sagoo, MS;
(2024)
Assessing large language models' accuracy in providing patient support for choroidal melanoma.
Eye
, 38
pp. 3113-3117.
10.1038/s41433-024-03231-w.
|
|
Anguita, R;
Khalid, H;
Arpa, C;
Roth, J;
Pal, B;
Keane, PA;
(2020)
Multimodal imaging of a vascularized idiopathic epiretinal membrane.
European Journal of Ophthalmology
10.1177/1120672120982523.
(In press).
|
|
|
Annear, NMP;
Appleton, RE;
Bassi, Z;
Bhatt, R;
Bolton, PF;
Crawford, P;
Crowe, A;
... Kingswood, JC; + view all
(2019)
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.
Frontiers in Neurology
, 10
, Article 1116. 10.3389/fneur.2019.01116.
|
|
|
Annio, G;
Torii, R;
Ducci, A;
Muthurangu, V;
Tsang, V;
Burriesci, G;
(2021)
Experimental Validation of Enhanced Magnetic Resonance Imaging (EMRI) Using Particle Image Velocimetry (PIV).
Annals of Biomedical Engineering
, 49
pp. 3481-3493.
10.1007/s10439-021-02811-1.
|
|
Antoniou, A;
Lenart, I;
Kriston-Vizi, J;
Takao, I;
Turmaine, M;
McHugh, K;
Ali, S;
... Powis, S; + view all
(2019)
Salmonella exploits HLA-B27 and host Unfolded Protein Responses to promote intracellular replication.
Annals of the Rheumatic Diseases
, 78
(1)
pp. 74-82.
10.1136/ annrheumdis-2018-213532.
|
|
|
Antounians, L;
Catania, VD;
Montalva, L;
Liu, BD;
Hou, H;
Chan, C;
Matei, AC;
... Zani, A; + view all
(2021)
Fetal lung underdevelopment is rescued by administration of amniotic fluid stem cell extracellular vesicles in rodents.
Science Translational Medicine
, 13
(590)
, Article eaax5941. 10.1126/scitranslmed.aax5941.
|
|
|
Apps, JR;
Carreno, G;
Mario Gonzalez-Meljem, J;
Haston, S;
Guiho, R;
Cooper, JE;
Manshaei, S;
... Martinez-Barbera, JP; + view all
(2018)
Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.
Acta Neuropathologica
, 135
(5)
pp. 757-777.
10.1007/s00401-018-1830-2.
|
 |
|
Apps, JR;
Stache, C;
Gonzalez-Meljem, JM;
Gutteridge, A;
Chalker, J;
Jacques, TS;
Forshew, T;
... Martinez-Barbera, JP; + view all
(2020)
CTNNB1 mutations are clonal in adamantinomatous craniopharyngioma.
Neuropathology and Applied Neurobiology
, 46
(5)
pp. 510-514.
10.1111/nan.12613.
|
|
|
Arbelo, Elena;
Protonotarios, Alexandros;
Gimeno, Juan R;
Arbustini, Eloisa;
Barriales-Villa, Roberto;
Basso, Cristina;
Bezzina, Connie R;
... ESC Scientific Document Group; + view all
(2023)
2023 ESC Guidelines for the management of cardiomyopathies.
European Heart Journal
, 44
(37)
pp. 3503-3626.
10.1093/eurheartj/ehad194.
|
|
Arbustini, Eloisa;
Behr, Elijah R;
Carrier, Lucie;
van Duijn, Cornelia;
Evans, Paul;
Favalli, Valentina;
van der Harst, Pim;
... Elliott, Perry; + view all
(2022)
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
European Heart Journal
10.1093/eurheartj/ehab895.
(In press).
|
|
|
Ardicli, D;
Sarkozy, A;
Zaharieva, I;
Deshpande, C;
Bodi, I;
Siddiqui, A;
U-King-Im, JM;
... Muntoni, F; + view all
(2019)
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.
Neuromuscular Disorders
, 29
(6)
pp. 448-455.
10.1016/j.nmd.2019.03.011.
|
|
Arfaie, Saman;
Amin, Pouya;
Kwan, Angela TH;
Solgi, Arad;
Sarabi, Ali;
Hakak-Zargar, Benyamin;
Brunette-Clément, Tristan;
... Fallah, Aria; + view all
(2023)
Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis.
Seizure
, 106
pp. 58-67.
10.1016/j.seizure.2023.01.020.
|
|
Argent, Andrew C;
Ranjit, Suchitra;
Peters, Mark J;
Andre-von Arnim, Amelie von Saint;
Chisti, Md Jobayer;
Jabornisky, Roberto;
Musa, Ndidiamaka L;
(2022)
Factors to be Considered in Advancing Pediatric Critical Care Across the World.
Critical Care Clinics
, 38
(4)
pp. 707-720.
10.1016/j.ccc.2022.07.001.
|
|
Arigliani, Michele;
Kirkham, Fenella J;
Sahota, Sati;
Riley, Mollie;
Liguoro, Ilaria;
Castriotta, Luigi;
Gupta, Atul;
... Aurora, Paul; + view all
(2022)
Lung Clearance Index May Detect Early Peripheral Lung Disease in Sickle Cell Anemia.
Annals of the American Thoracic Society
, 19
(9)
pp. 1507-1515.
10.1513/AnnalsATS.202102-168OC.
|
|
Arnaud, A;
Suply, E;
Eaton, SJ;
Blackburn, S;
Giuliani, S;
Curry, J;
Cross, K;
(2019)
Laparoscopic Ladd’s procedure for malrotation in infants and children is still a controversial approach.
Journal of Pediatric Surgery
, 54
(9)
pp. 1843-1847.
10.1016/j.jpedsurg.2018.09.023.
|
|
Arnold, Danielle E;
Nofal, Rofida;
Wakefield, Connor;
Lehmberg, Kai;
Wustrau, Katharina;
Albert, Michael H;
Morris, Emma C;
... Marsh, Rebecca A; + view all
(2022)
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD.
Journal of Clinical Immunology
, 42
(1)
pp. 36-45.
10.1007/s10875-021-01103-6.
|
|
Arnold, ML;
Heinemann, FM;
Oesterreich, S;
Wilde, B;
Gäckler, A;
Goldblatt, D;
Spriewald, BM;
... Lindemann, M; + view all
(2022)
Correlation of Fc Receptor Polymorphisms with Pneumococcal Antibodies in Vaccinated Kidney Transplant Recipients.
Vaccines
, 10
(5)
, Article 725. 10.3390/vaccines10050725.
|
|
Arpa, C;
Khalid, H;
Chandra, S;
Wagner, S;
Fasler, K;
Faes, L;
Pooprasert, P;
... Fu, DJ; + view all
(2020)
Ten-year survival trends of neovascular age-related macular degeneration at first presentation.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-317161.
(In press).
|
|
|
Arthur, L;
Keen, K;
Verriotis, M;
Peters, J;
Kelly, A;
Howard, RF;
Dib-Hajj, SD;
... Walker, SM; + view all
(2019)
Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.
The Journal of Pediatrics
, 206
217-224.e9.
10.1016/j.jpeds.2018.10.024.
|
|
Arthurs, OJ;
Goh, V;
Hoggard, N;
Booth, T;
Messiou, C;
Teh, J;
Plumb, A;
... Hall-Craggs, M; + view all
(2020)
Professional development and research are being neglected: a commentary on the 2019 RCR radiologists' supporting professional activities (SPA) survey.
Clinical Radiology
, 75
(5)
pp. 348-350.
10.1016/j.crad.2020.03.001.
|
|
Asadi-Pooya, Ali A;
Patel, Archana A;
Trinka, Eugen;
Mazurkiewicz-Beldzinska, Maria;
Cross, J Helen;
Welty, Timothy E;
(2022)
Recommendations for treatment strategies in people with epilepsy during times of shortage of antiseizure medications.
Epileptic Disorders
, 24
(5)
10.1684/epd.2022.1468.
(In press).
|
|
Ascari, G;
Rendtorff, ND;
De Bruyne, M;
De Zaeytijd, J;
Van Lint, M;
Bauwens, M;
Van Heetvelde, M;
... De Baere, E; + view all
(2021)
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Frontiers in Cell and Developmental Biology
, 9
, Article 664317. 10.3389/fcell.2021.664317.
|
|
|
Asfahani, R;
Tahoun, MM;
Miller-Hodges, EV;
Bellerby, J;
Virasami, AK;
Sampson, RD;
Moulding, D;
... Waters, AM; + view all
(2018)
Activation of podocyte Notch mediates early Wt1 glomerulopathy.
Kidney International
10.1016/j.kint.2017.11.014.
(In press).
|
|
|
Ashton, E;
Bockenhauer, D;
(2020)
Diagnosis of uncertain significance: can next generation sequencing replace the clinician?
Kidney International
, 97
(3)
pp. 455-457.
10.1016/j.kint.2019.12.012.
|
|
Ashton, E;
Legrand, A;
Benoit, V;
Roncelin, I;
Venisse, A;
Zennaro, MC;
Jeunemaitre, X;
... Bockenhauer, D; + view all
(2018)
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney International
, 93
(4)
pp. 961-967.
10.1016/j.kint.2017.10.016.
|
|
Asselbergs, FW;
Sammani, A;
Elliott, P;
Gimeno, JR;
Tavazzi, L;
Tendera, M;
Kaski, JP;
... Cardiomyopathy & Myocarditis Registry Investigators Group; + view all
(2020)
Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry.
ESC Heart Failure
10.1002/ehf2.13100.
(In press).
|
|
|
Astrea, G;
Romano, A;
Angelini, C;
Antozzi, CG;
Barresi, R;
Battini, R;
Battisti, C;
... Santorelli, FM; + view all
(2018)
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Orphanet Journal of Rare Diseases
, 13
, Article 170. 10.1186/s13023-018-0863-x.
|
|
|
Athanasakos, E;
Cleeve, S;
Thapar, N;
Lindley, K;
Perring, S;
Cronin, H;
Borrelli, O;
(2020)
Anorectal manometry in children with defecation disorders BSPGHAN Motility Working Group consensus statement.
Neurogastroenterology and Motility
, Article e13797. 10.1111/nmo.13797.
|
|
|
Atkinson, Laura;
Lee, Jack CD;
Lennon, Alexander;
Shah, Divya;
Storey, Nathaniel;
Morfopoulou, Sofia;
Harris, Kathryn A;
... Brown, Julianne R; + view all
(2023)
Untargeted metagenomics protocol for the diagnosis of infection from CSF and tissue from sterile sites.
Heliyon
, 9
(9)
, Article E19854. 10.1016/j.heliyon.2023.e19854.
|
|
|
Aughwane, R;
Schaaf, C;
Hutchinson, JC;
Virasami, A;
Zuluaga, MA;
Sebire, N;
Arthurs, OJ;
... David, AL; + view all
(2019)
Micro-CT and histological investigation of the spatial pattern of feto-placental vascular density.
Placenta
10.1016/j.placenta.2019.09.014.
(In press).
|
|
|
Aurora, P;
Duncan, Julie Anne;
Lum, S;
Davies, G;
Wade, A;
Stocks, J;
Viviani, L;
... Bush, A; + view all
(2022)
Early Pseudomonas aeruginosa predicts poorer pulmonary function in preschool children with cystic fibrosis.
Journal of Cystic Fibrosis
, 21
(6)
pp. 988-995.
10.1016/j.jcf.2022.04.013.
|
|
Avesani, Martina;
Sabatino, Jolanda;
Borrelli, Nunzia;
Cattapan, Irene;
Leo, Isabella;
Pelaia, Giulia;
Moscatelli, Sara;
... Di Salvo, Giovanni; + view all
(2024)
The mechanics of congenital heart disease: from a morphological trait to the functional echocardiographic evaluation.
Frontiers in Cardiovascular Medicine
, 11
, Article 1301116. 10.3389/fcvm.2024.1301116.
|
|
|
Awuah, Arnold;
Zamani, Ava;
Tahami, Fariba;
Davis, Mark;
Grandjean, Louis;
Buckland, Matthew;
Gilmour, Kimberly;
(2022)
T-cell responses to SARS-CoV-2 in healthy controls and primary immunodeficiency patients.
Clinical and Experimental Immunology
, 207
(3)
pp. 336-339.
10.1093/cei/uxac001.
|
|
Aychoua, N;
Schiff, E;
Malka, S;
Tailor, VK;
Chan, HW;
Oluonye, N;
Theodorou, M;
(2022)
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics.
Frontiers in Genetics
, 13
, Article 977806. 10.3389/fgene.2022.977806.
|
|
Aydin, SE;
Freeman, AF;
Al-Herz, W;
Al-Mousa, HA;
Arnaout, RK;
Aydin, RC;
Barlogis, V;
... Inborn Errors Working Party of the European Group for Blood and; + view all
(2019)
Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.
Journal of Allergy and Clinical Immunology: In Practice
, 7
(3)
pp. 848-855.
10.1016/j.jaip.2018.10.035.
|
|
Ayoub, LJ;
Zhu, J;
Lee, SJ;
Mugisha, N;
Patel, K;
Duerden, EG;
Stinson, J;
... McAndrews, MP; + view all
(2023)
Age-related effects on the anterior and posterior hippocampal volumes in 6–21 year olds: A model selection approach.
Hippocampus
, 33
(1)
pp. 37-46.
10.1002/hipo.23487.
|
B
|
Babiker, Mohamed OE;
Kurian, Manju A;
Suleiman, Jehan;
(2022)
Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency.
Frontiers in Pediatrics
, 10
, Article 964201. 10.3389/fped.2022.964201.
|
|
Bachmann, C;
Noreen, F;
Voermans, NC;
Schar, PL;
Vissing, J;
Fock, JM;
Bulk, S;
... Treves, S; + view all
(2019)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Human Mutation
, 40
(7)
pp. 962-974.
10.1002/humu.23745.
|
|
Bacila, I;
Adaway, J;
Hawley, J;
Mahdi, S;
Krone, R;
Patel, L;
Alvi, S;
... Krone, N; + view all
(2019)
Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency.
The Journal of Clinical Endocrinology & Metabolism
, 104
(12)
pp. 6417-6429.
10.1210/jc.2019-00031.
|
|
Badshah, II;
Brown, S;
Weibel, L;
Rose, A;
Way, B;
Sebire, N;
Inman, G;
... O'Shaughnessy, R; + view all
(2019)
Differential expression of secreted factors SOSTDC1 and ADAMTS8 cause profibrotic changes in linear morphoea fibroblasts.
British Journal of Dermatology
, 180
(5)
pp. 1135-1149.
10.1111/bjd.17352.
|
|
Baggaley, A;
Reid, T;
Davidson, J;
de Coppi, P;
Botha, A;
(2018)
Late life revision surgery for dilated colonic conduit in long gap oesophageal atresia.
Annals of The Royal College of Surgeons of England
, 100
(7)
e185-e187.
10.1308/rcsann.2018.0120.
|
|
|
Baier, G;
Zhang, L;
Wang, Q;
Moeller, F;
(2021)
Extracting the transition network of epileptic seizure onset.
Chaos
, 31
(2)
, Article 023143. 10.1063/5.0026074.
|
|
Bakalis, S;
Cao, K;
Graham, R;
Cuckow, P;
Johal, N;
Winyard, P;
Pandya, P;
(2020)
Outcomes of urinary tract abnormalities diagnosed by the routine third trimester scan.
European Journal of Obstetrics & Gynecology and Reproductive Biology
, 250
pp. 150-154.
10.1016/j.ejogrb.2020.05.008.
|
|
Baker, J;
Barnett, C;
Cavalli, L;
Dietrich, M;
Dixon, L;
Duffy, JR;
Elias, A;
... McWhirter, L; + view all
(2021)
Management of functional communication, swallowing, cough and related disorders: Consensus recommendations for speech and language therapy.
Journal of Neurology, Neurosurgery and Psychiatry
, 92
(10)
pp. 1112-1125.
10.1136/jnnp-2021-326767.
|
|
Baker, RJ;
Marks, SD;
(2018)
Management of chronic renal allograft dysfunction and when to re-transplant.
Pediatric Nephrology
10.1007/s00467-018-4000-9.
(In press).
|
|
|
Bakkalci, Deniz;
Al-Badri, Georgina;
Yang, Wei;
Nam, Andy;
Liang, Yan;
Fisher, Jonathan;
Cheema, Umber;
(2023)
Engineering a metastatic stroma directs the osteosarcoma tumour transcriptome in a spatially specific manner.
Applied Materials Today
, 35
, Article 101994. 10.1016/j.apmt.2023.101994.
|
|
Balani, Ankit;
Sidpra, Jai;
Sudhakar, Sniya;
Biswas, Asthik;
Öztekin, Özgür;
Capra, Valeria;
Catala, Martin;
... Mankad, Kshitij; + view all
(2024)
International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.
American Journal of Neuroradiology
10.3174/ajnr.A8117.
(In press).
|
|
Balasubramaniam, S;
Christodoulou, J;
Rahman, S;
(2019)
Disorders of Riboflavin Metabolism.
Journal of Inherited Metabolic Disease
, 42
(4)
pp. 608-619.
10.1002/jimd.12058.
|
|
Bale, G;
Mitra, S;
de Roever, I;
Sokolska, M;
Price, D;
Bainbridge, A;
Gunny, R;
... Tachtsidis, I; + view all
(2019)
Oxygen dependency of mitochondrial metabolism indicates outcome of newborn brain injury.
Journal of Cerebral Blood Flow & Metabolism
, 39
(10)
pp. 2035-2047.
10.1177/0271678X18777928.
|
|
Balestrini, S;
Koepp, MJ;
Gandhi, S;
Rickman, HM;
Yen Shin, G;
Houlihan, CF;
Anders-Cannon, J;
... Sisodiya, SM; + view all
(2021)
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Epilepsy & Behavior
, 115
, Article 107602. 10.1016/j.yebeh.2020.107602.
|
|
Balestrini, S;
Chiarello, D;
Gogou, M;
Silvennoinen, K;
Puvirajasinghe, C;
Jones, WD;
Reif, P;
... Sisodiya, SM; + view all
(2021)
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-325932.
(In press).
|
|
|
Balloux, F;
Brønstad Brynildsrud, O;
van Dorp, L;
Shaw, LP;
Chen, H;
Harris, KA;
Wang, H;
(2018)
From Theory to Practice: Translating Whole-Genome Sequencing (WGS) into the Clinic.
Trends in Microbiology
, 26
(12)
pp. 1035-1048.
10.1016/j.tim.2018.08.004.
|
|
|
Balogh, E;
Chandler, J;
Varga, M;
Tahoun, M;
Menyhárd, DK;
Schay, G;
Goncalves, T;
... Tory, K; + view all
(2020)
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America
, 117
(26)
pp. 15137-15147.
10.1073/pnas.2002328117.
|
|
Bamford, A;
Dixon, G;
Klein, N;
Marks, SD;
Ritz, N;
Welch, SB;
Tebruegge, M;
(2020)
Preventing tuberculosis in paediatric kidney transplant recipients: is there a role for BCG immunisation pre-transplantation in low tuberculosis incidence countries?
Pediatric Nephrology
10.1007/s00467-020-04844-5.
(In press).
|
|
|
Bamford, A;
Turkova, A;
Lyall, H;
Foster, C;
Klein, N;
Bastiaans, D;
Burger, D;
... Welch, S; + view all
(2018)
Paediatric European Network for Treatment of AIDS (PENTA) guidelines for treatment of paediatric HIV-1 infection 2015: Optimizing health in preparation for adult life.
HIV Medicine
, 19
(1)
e1-e42.
10.1111/hiv.12217.
|
|
Banerjee, Debasish B;
Parekh, Pooja;
Cross, Kate;
Blackburn, Simon;
Roebuck, Derek J;
Curry, Joe;
Eaton, Simon;
... De Coppi, Paolo; + view all
(2022)
Long-term outcomes following failure of Nissen fundoplication.
Pediatric Surgery International
, 38
pp. 707-712.
10.1007/s00383-022-05098-y.
|
|
Banerjee, A;
Pasea, L;
Harris, S;
Gonzalez-Izquierdo, A;
Torralbo, A;
Shallcross, L;
Noursadeghi, M;
... Hemingway, H; + view all
(2020)
Estimating excess 1-year mortality associated with the COVID-19 pandemic according to underlying conditions and age: a population-based cohort study.
The Lancet
10.1016/S0140-6736(20)30854-0.
(In press).
|
|
|
Bara, VB;
Schoeler, N;
Carroll, JH;
Simpson, Z;
Cameron, T;
(2023)
Patient and carer perspectives on the use of video consultations in the management of the ketogenic diet for epilepsy.
Epilepsy and Behavior
, 145
, Article 109280. 10.1016/j.yebeh.2023.109280.
|
|
Baranello, G;
Gorni, K;
Daigl, M;
Kotzeva, A;
Evans, R;
Hawkins, N;
Scott, DA;
... Servais, L; + view all
(2021)
Prognostic factors and treatment-effect modifiers in spinal muscular atrophy.
Clinical Pharmacology and Therapeutics
10.1002/cpt.2247.
(In press).
|
|
Baranello, G;
Darras, BT;
Day, JW;
Deconinck, N;
Klein, A;
Masson, R;
Mercuri, E;
... FIREFISH Working Group; + view all
(2021)
Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine
, 384
(10)
pp. 915-923.
10.1056/NEJMoa2009965.
|
|
Baranello, G;
Vai, S;
Broggi, F;
Masson, R;
Arnoldi, MT;
Zanin, R;
Mastella, C;
(2019)
Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3.
Neuromuscular Disorders
, 29
(7)
pp. 525-532.
10.1016/j.nmd.2019.06.001.
|
|
Barba, C;
Cross, JH;
Braun, K;
Cossu, M;
Klotz, KA;
De Masi, S;
Perez Jimenez, MA;
... Lucenteforte, E; + view all
(2020)
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation.
Epilepsia
, 61
(2)
pp. 216-227.
10.1111/epi.16414.
|
|
Barcroft, JF;
Galazis, N;
Jones, BP;
Getreu, N;
Bracewell-Milnes, T;
Grewal, KJ;
Sorbi, F;
... Saso, S; + view all
(2021)
Fertility treatment and cancers—the eternal conundrum: a systematic review and meta-analysis.
Human Reproduction
, 36
(4)
pp. 1093-1107.
10.1093/humrep/deaa293.
|
|
Bardol, Maddlie;
Pan, Shan;
Walker, Suellen;
Standing, Joseph;
Dawes, Joy;
(2023)
Pharmacokinetic pharmacodynamic modeling of analgesics and sedatives in children.
Paediatric Anaesthesia
, 33
(10)
pp. 781-792.
10.1111/pan.14712.
|
|
Barkana, Y;
Leshno, A;
Stern, O;
Singer, R;
Russ, H;
Oddone, F;
Lanzetta, P;
... Skaat, A; + view all
(2021)
Visual Field Endpoints Based on Subgroups of Points May Be Useful in Glaucoma Clinical Trials: A Study With the Humphrey Field Analyzer and Compass Perimeter.
Journal of Glaucoma
, 30
(8)
pp. 661-665.
10.1097/IJG.0000000000001856.
|
|
Baruteau, J;
Brunetti-Pierri, N;
Gissen, P;
(2024)
Liver-directed gene therapy for inherited metabolic diseases.
Journal of Inherited Metabolic Disease
, 47
(1)
pp. 9-21.
10.1002/jimd.12709.
|
|
Baruteau, Julien;
Keshavan, Nandaki;
Venditti, Charles P;
(2024)
Mission possible: Gene therapy for inherited metabolic diseases.
Journal of Inherited Metabolic Disease
, 47
(1)
pp. 5-6.
10.1002/jimd.12708.
|
|
Baruteau, A-E;
Kyndt, F;
Behr, ER;
Vink, AS;
Lachaud, M;
Joong, A;
Schott, J-J;
... Probst, V; + view all
(2018)
SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.
European Heart Journal
, 39
(31)
pp. 2879-2887.
10.1093/eurheartj/ehy412.
|
|
Baruteau, J;
Diez-Fernandez, C;
Lerner, S;
Ranucci, G;
Gissen, P;
Dionisi-Vici, C;
Nagamani, S;
... Häberle, J; + view all
(2019)
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Journal of Inherited Metabolic Disease
, 42
(6)
pp. 1147-1161.
10.1002/jimd.12047.
|
|
Baruteau, J;
Khalil, Y;
Grunewald, S;
Zancolli, M;
Chakrapani, A;
Cleary, M;
Davison, J;
... Mills, P; + view all
(2019)
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
Metabolites
, 9
(11)
, Article 275. 10.3390/metabo9110275.
|
|
|
Baruteau, J;
Perocheau, DP;
Hanley, J;
Lorvellec, M;
Rocha-Ferreira, E;
Karda, R;
Ng, J;
... Waddington, SN; + view all
(2018)
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
Nature Communications
, 9
(1)
, Article 3505. 10.1038/s41467-018-05972-1.
|
|
|
Baruteau, J;
Waddington, SN;
(2019)
Fetal gene therapy for neurodegenerative lysosomal storage diseases.
Journal of Inherited Metabolic Disease
, 42
(3)
pp. 391-393.
10.1002/jimd.12018.
|
|
Barzaghi, F;
Hernandez, LCA;
Neven, B;
Ricci, S;
Kucuk, ZY;
Bleesing, JJ;
Nademi, Z;
... Bacchetta, R; + view all
(2018)
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Journal of Allergy and Clinical Immunology
, 141
(3)
1036-1049.e5.
10.1016/j.jaci.2017.10.041.
|
|
|
Basart, H;
Suttie, M;
Ibrahim, A;
Ferretti, P;
van der Horst, CMAM;
Hennekam, RC;
Hammond, P;
(2018)
Objectifying Micrognathia Using Three-Dimensional Photogrammetric Analysis.
The Journal of Craniofacial Surgery
, 29
(8)
pp. 2106-2109.
10.1097/SCS.0000000000005056.
|
|
Basatemur, E;
Jones, A;
Peters, M;
Ramnarayan, P;
(2020)
Paediatric critical care referrals of children with diabetic ketoacidosis during the COVID-19 pandemic.
[Letter].
Archives of Disease in Childhood
10.1136/archdischild-2020-320471.
(In press).
|
|
|
Batchelor, R;
Catanzano, M;
Kerry, E;
Bennett, SD;
Coughtrey, AE;
Liang, H;
Curry, V;
... Shafran, R; + view all
(2020)
Debate: Lessons learned in lockdown – a one‐day remotely delivered training on low‐intensity psychological interventions for common mental health conditions.
Child and Adolescent Mental Health
10.1111/camh.12402.
(In press).
|
|
|
Bates, EA;
Counsell, JR;
Alizert, S;
Baker, AT;
Suff, N;
Boyle, A;
Bradshaw, AC;
... Parker, AL; + view all
(2021)
In vitro and in vivo evaluation of human adenovirus type 49 as a vector for therapeutic applications.
Viruses
, 13
(8)
, Article 1483. 10.3390/v13081483.
|
|
|
Bathelt, J;
Dale, NJ;
de Haan, M;
Clark, CA;
(2019)
Brain structure in children with congenital visual disorders and visual impairment.
Developmental Medicine and Child Neurology
10.1111/dmcn.14322.
(In press).
|
|
|
Bathelt, J;
de Haan, M;
Dale, NJ;
(2019)
Adaptive behaviour and quality of life in school-age children with congenital visual disorders and different levels of visual impairment.
Research in Developmental Disabilities
, 85
pp. 154-162.
10.1016/j.ridd.2018.12.003.
|
|
Battersby, AC;
Braggins, H;
Pearce, MS;
McKendrick, F;
Campbell, M;
Burns, S;
Cale, CM;
... Gennery, AR; + view all
(2019)
Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.
Journal of Clinical Immunology
10.1007/s10875-019-00607-6.
(In press).
|
|
|
Baumann, M;
Bartels, F;
Finke, C;
Adamsbaum, C;
Hacohen, Y;
Rostásy, K;
E.U. paediatric MOG consortium;
(2020)
E.U. paediatric MOG consortium consensus: Part 2 - Neuroimaging features of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
European Journal of Paediatric Neurology
, 29
pp. 14-21.
10.1016/j.ejpn.2020.10.002.
|
|
Baumgartner, T;
Carreño, M;
Rocamora, R;
Bisulli, F;
Boni, A;
Brázdil, M;
Horak, O;
... Sadowski, K; + view all
(2020)
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
Epilepsia Open
10.1002/epi4.12459.
(In press).
|
|
|
Bauwens, Miriam;
Celik, Elifnaz;
Zur, Dinah;
Lin, Siying;
Quinodoz, Mathieu;
Michaelides, Michel;
Webster, Andrew R;
... Ben-Yosef, Tamar; + view all
(2024)
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
The American Journal of Human Genetics
, 111
(2)
pp. 393-402.
10.1016/j.ajhg.2024.01.001.
|
|
Bax, BE;
Levene, M;
Bain, MD;
Fairbanks, LD;
Filosto, M;
Kalkan Uçar, S;
Klopstock, T;
... Nirmalananthan, N; + view all
(2019)
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
MDPI — JCM
, 8
(8)
, Article 1096. 10.3390/jcm8081096.
|
|
|
Bayat, A;
Knaus, A;
Juul, AW;
Dukic, D;
Gardella, E;
Charzewska, A;
Clement, E;
... DDD Study Group, .; + view all
(2019)
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genetics in Medicine
, 21
pp. 2216-2223.
10.1038/s41436-019-0512-3.
|
|
Beecham, E;
Langner, R;
Hargrave, D;
Bluebond-Langner, M;
(2019)
Children's and Parents' Conceptualization of Quality of Life in Children With Brain Tumors: A Meta-Ethnographic Exploration.
Qualitative Health Research
, 29
(1)
pp. 55-68.
10.1177/1049732318786484.
|
|
|
Beesley, MA;
Davidson, JR;
Panariello, F;
Shibuya, S;
Scaglioni, D;
Jones, BC;
Maksym, K;
... Gerli, MFM; + view all
(2021)
COVID-19 and vertical transmission: assessing the expression of ACE2 / TMPRSS2 in the human fetus and placenta to assess the risk of SARS-CoV-2 infection.
BJOG: An International Journal of Obstetrics & Gynaecology
10.1111/1471-0528.16974.
(In press).
|
|
|
Behjati, S;
Green, K;
Cheng, CWD;
(2019)
Fifteen Minute Consultation: Obvious and Not-So-Obvious Mediastinal Masses.
Archives of Disease in Childhood - Education & Practice edition
10.1136/archdischild-2018-315269.
|
|
|
Behrndt, Laken;
Gregory, Allison;
Wakeman, Katrina;
Freed, Alison;
Wilson, Jenny L;
Spaull, Robert;
Kurian, Manju A;
... Yang, Scott; + view all
(2024)
Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
Journal of Pediatric Orthopaedics
, 44
(1)
e61-e68.
10.1097/BPO.0000000000002555.
|
|
Belay, M;
Tulu, B;
Younis, S;
Jolliffe, DA;
Tayachew, D;
Manwandu, H;
Abozen, T;
... Martineau, AR; + view all
(2021)
Detection of Mycobacterium tuberculosis complex DNA in CD34-positive peripheral blood mononuclear cells of asymptomatic tuberculosis contacts: an observational study.
The Lancet Microbe
10.1016/S2666-5247(21)00043-4.
(In press).
|
|
|
Belitsis, Georgios;
Schievano, Silvia;
Kostolny, Martin;
Cook, andrew;
(2022)
Aortic Arch Phenotypes in Double Outlet Right Ventricle (DORV)—Implications for Surgery and Multi-Modal Imaging.
Journal of Cardiovascular Development and Disease
, 9
(8)
, Article 262. 10.3390/jcdd9080262.
|
|
|
Bell, S;
Karamchandani, U;
Malcolmson, K;
Moosajee, M;
(2021)
Acceptability of Telegenetics for Families with Genetic Eye Diseases.
Genes
, 12
(2)
, Article 276. 10.3390/genes12020276.
|
|
|
Bell, S;
Malka, S;
Lloyd, IC;
Moosajee, M;
(2021)
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Genes
, 12
(2)
, Article 131. 10.3390/genes12020131.
|
|
|
Bello, L;
D'Angelo, G;
Villa, M;
Fusto, A;
Vianello, S;
Merlo, B;
Sabbatini, D;
... Pegoraro, E; + view all
(2020)
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Annals of Clinical and Translational Neurology
, 7
(5)
pp. 786-798.
10.1002/acn3.51046.
|
|
|
Belzunce, MA;
Henckel, J;
Di Laura, A;
Hart, AJ;
(2022)
Reference values for volume, fat content and shape of the hip abductor muscles in healthy individuals from Dixon MRI.
NMR in Biomedicine
, 35
(2)
, Article e4636. 10.1002/nbm.4636.
|
|
Ben Yaou, R;
Yun, P;
Dabaj, I;
Norato, G;
Donkervoort, S;
Xiong, H;
Nascimento, A;
... Bonne, G; + view all
(2021)
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Brain Communications
, 3
(3)
, Article fcab075. 10.1093/braincomms/fcab075.
|
|
|
Ben Zvi, Ido;
Enright, Noelle;
D'arco, Felice;
Tahir, M Zubair;
Chari, Aswin;
Cross, J Helen;
Eltze, Christin;
(2022)
Children with seizures and radiological diagnosis of focal cortical dysplasia: can drug-resistant epilepsy be predicted earlier?
Epileptic Disorders
, 24
(1)
pp. 111-122.
10.1684/epd.2021.1368.
|
|
Benger, M;
Mankad, K;
Proukakis, C;
Mazarakis, ND;
Kinali, M;
(2019)
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Frontiers in Neurology
, 10
, Article 555. 10.3389/fneur.2019.00555.
|
|
|
Beniczky, S;
Husain, A;
Ikeda, A;
Alabri, H;
Helen Cross, J;
Wilmshurst, J;
Seeck, M;
... Trinka, E; + view all
(2021)
Importance of access to epilepsy monitoring units during the COVID-19 pandemic: Consensus statement of the International League against epilepsy and the International Federation of Clinical Neurophysiology.
Clinical Neurophysiology
, 132
(9)
pp. 2248-2250.
10.1016/j.clinph.2021.05.001.
|
|
|
Benjamin, P;
Sudhakar, S;
D'Arco, F;
Lobel, U;
Carney, O;
Roux, C-J;
Boddaert, N;
... Mankad, K; + view all
(2022)
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.
American Journal of Neuroradiology
, 43
(1)
pp. 2-10.
10.3174/ajnr.A7362.
|
|
Bennett, S;
Au, C;
Byford, S;
Chorpita, B;
Coughtrey, A;
Cross, H;
Dalrymple, E;
... Shafran, R; + view all
(2021)
Feasibility of telephone-delivered therapy for common mental health difficulties embedded in paediatric epilepsy clinics.
Epilepsy & Behavior
, 116
, Article 107743. 10.1016/j.yebeh.2020.107743.
|
|
Bennett, S;
Heyman, I;
Coughtrey, A;
Buszewicz, M;
Byford, S;
Dore, C;
Fonagy, P;
... Shafran, R; + view all
(2019)
Assessing feasibility of routine identification tools for mental health disorder in neurology clinics.
Archives of Disease in Childhood
, 104
(12)
pp. 1161-1166.
10.1136/archdischild-2018-316595.
|
|
Bennett, S;
Heyman, I;
Varadkar, S;
Coughtrey, A;
Walji, F;
Shafran, R;
(2021)
Guided Self-help Teletherapy for Behavioural Difficulties in Children with Epilepsy.
Journal of Clinical Psychology in Medical Settings
10.1007/s10880-021-09768-2.
(In press).
|
|
|
Bennett, SD;
Coughtrey, AE;
Heyman, I;
Greally, S;
Clarkson, H;
Bhattacharyya, T;
Lewis, C;
... Shafran, R; + view all
(2018)
Guided self-help for mental health disorders in children and young people with chronic neurological conditions: A qualitative evaluation.
European Journal of Paediatric Neurology
, 22
(4)
pp. 620-631.
10.1016/j.ejpn.2018.02.011.
|
|
Bennett, SD;
Cuijpers, P;
Ebert, D;
McKenzie, M;
Coughtrey, A;
Heyman, I;
Manzotti, G;
(2019)
Practitioner Review: Unguided and guided self‐help interventions for common mental health disorders in children and adolescents: a systematic review and meta‐analysis.
Journal of Child Psychology and Psychiatry
, 60
(8)
pp. 828-847.
10.1111/jcpp.13010.
|
|
Benova, B;
Jacques, TS;
(2019)
Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.
Brain Pathology
, 29
(4)
pp. 473-484.
10.1111/bpa.12686.
|
|
Bentley, S;
Davies, JC;
Gastine, S;
Donovan, J;
Standing, JF;
(2021)
Clinical pharmacokinetics and dose recommendations for posaconazole gastroresistant tablets in children with cystic fibrosis.
The Journal of antimicrobial chemotherapy
10.1093/jac/dkab312.
(In press).
|
|
|
Berry, V;
Ionides, A;
Pontikos, N;
Moore, AT;
Quinlan, RA;
Michaelides, M;
(2022)
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Eye
, 36
pp. 1694-1701.
10.1038/s41433-021-01711-x.
|
|
Bertaud, S;
Lloyd, DFA;
Sharland, G;
Razavi, R;
Bluebond-Langner, M;
(2020)
The impact of prenatal counselling on mothers of surviving children with hypoplastic left heart syndrome: A qualitative interview study.
Health Expectations
10.1111/hex.13103.
(In press).
|
|
|
Bertrand, RE;
Wang, J;
Xiong, KH;
Thangavel, C;
Qian, X;
Ba-Abbad, R;
Liang, Q;
... Chen, R; + view all
(2021)
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Genetics in Medicine
, 23
pp. 488-497.
10.1038/s41436-020-01003-x.
|
 |
|
Bertulli, C;
Hureaux, M;
De Mutiis, C;
Pasini, A;
Bockenhauer, D;
Vargas-Poussou, R;
La Scola, C;
(2020)
A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis.
Children
, 7
(11)
, Article 212. 10.3390/children7110212.
|
|
|
Besouw, MTP;
Kleta, R;
Bockenhauer, D;
(2019)
Bartter and Gitelman syndromes: questions of class.
Pediatric Nephrology
10.1007/s00467-019-04371-y.
(In press).
|
|
Best, J;
Liu, PY;
Ffytche, D;
Potts, J;
Moosajee, M;
(2019)
Think sight loss, think Charles Bonnet syndrome.
Therapeutic Advances in Ophthalmology
, 11
pp. 1-2.
10.1177/2515841419895909.
|
|
|
Best, S;
Shoemark, A;
Rubbo, B;
Patel, MP;
Fassad, MR;
Dixon, M;
Rogers, AV;
... Hogg, C; + view all
(2018)
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Thorax
, 74
(2)
10.1136/thoraxjnl-2018-212104.
|
  |
|
Betts, CA;
Jagannath, A;
van Westering, TLE;
Bowerman, M;
Banerjee, S;
Meng, J;
Falzarano, MS;
... Wood, MJA; + view all
(2021)
Dystrophin involvement in peripheral circadian SRF signalling.
Life Science Alliance
, 4
(10)
, Article e202101014. 10.26508/lsa.202101014.
|
|
|
Bhandarkar, Kailas;
DeCoppi, Paolo;
Cross, Kate;
Blackburn, Simon;
Curry, Joe;
(2024)
Long-Term Functional Outcomes and Multidisciplinary Management after Ileorectal Duhamel Pull-Through for Total Colonic Aganglionosis—20-Year Experience in a Tertiary Surgical Center.
European Journal of Pediatric Surgery
, 34
(5)
pp. 423-429.
10.1055/a-2181-2065.
|
|
Bharucha, T;
Oeser, C;
Balloux, F;
Brown, JR;
Carbo, EC;
Charlett, A;
Chiu, CY;
... Field, N; + view all
(2020)
STROBE-metagenomics: a STROBE extension statement to guide the reporting of metagenomics studies.
Lancet Infectious Diseases
, 20
(10)
E251-E260.
10.1016/S1473-3099(20)30199-7.
|
|
Bhattacharya, D;
Chhabda, S;
Lakshmanan, R;
Tan, R;
Warne, R;
Benenati, M;
Michalski, A;
... Mankad, K; + view all
(2021)
Spectrum of neuroimaging findings post-proton beam therapy in a large pediatric cohort.
Child's Nervous System
, 37
pp. 435-446.
10.1007/s00381-020-04819-9.
|
|
Bianchi, Alessia;
Cortese, Rosa;
Prados, Ferran;
Tur, Carmen;
Kanber, Baris;
Yiannakas, Marios C;
Samson, Rebecca;
... Toosy, Ahmed T; + view all
(2024)
Optic chiasm involvement in multiple sclerosis, aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein–associated disease.
Multiple Sclerosis Journal
, 30
(6)
674 -686.
10.1177/13524585241240420.
|
|
|
Biasco, L;
Izotova, N;
Rivat, C;
Ghorashian, S;
Richardson, R;
Guvenel, A;
Hough, R;
... Amrolia, PJ; + view all
(2021)
Clonal expansion of T memory stem cells determines early anti-leukemic responses and long-term CAR T cell persistence in patients.
Nature Cancer
, 2
pp. 629-64.
10.1038/s43018-021-00207-7.
|
|
Biassoni, L;
Privitera, L;
(2021)
¹²³I-meta-iodobenzylguanidine single-photon emission computerized tomography/computerized tomography scintigraphy in the management of neuroblastoma.
Indian Journal of Nuclear Medicine
, 36
(3)
pp. 293-299.
10.4103/ijnm.ijnm_10_21.
|
|
|
Bichet, DG;
Granier, S;
Bockenhauer, D;
(2019)
GNAS: a new nephrogenic cause of inappropriate antidiuresis.
[Editorial comment].
Journal of the American Society of Nephrology
, 30
(5)
pp. 722-725.
10.1681/ASN.2019020143.
|
|
|
Bicket, AK;
Le, JT;
Azuara-Blanco, A;
Gazzard, G;
Wormald, R;
Bunce, C;
Hu, K;
... Li, T; + view all
(2021)
Minimally Invasive Glaucoma Surgical Techniques for Open-Angle Glaucoma An Overview of Cochrane Systematic Reviews and Network Meta-analysis.
JAMA Ophthalmology
10.1001/jamaophthalmol.2021.2351.
(In press).
|
|
Biebermann, H;
Kleinau, G;
Schnabel, D;
Bockenhauer, D;
Wilson, LC;
Tully, I;
Kiff, S;
... Grüters, A; + view all
(2019)
A new multi-system disorder caused by the Gαs mutation p.F376V.
The Journal of Clinical Endocrinology & Metabolism
, 104
(4)
pp. 1079-1089.
10.1210/jc.2018-01250.
|
|
Biglino, G;
Milano, EG;
Capelli, C;
Wray, J;
Shearn, AI;
Caputo, M;
Bucciarelli-Ducci, C;
... Schievano, S; + view all
(2019)
Three-dimensional printing in congenital heart disease: Considerations on training and clinical implementation from a teaching session.
The International Journal of Artificial Organs
10.1177/0391398819849074.
(In press).
|
|
|
Bindoff, LA;
Brown, DA;
Gorman, GS;
Karaa, A;
Keshavan, N;
Lamperti, C;
Mancuso, M;
... De Vries, MC; + view all
(2021)
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 6-7.
10.1002/jimd.12329.
|
|
Birkeland, P;
Tharmabalan, V;
Lauritsen, J;
Ganesan, V;
Bjarkam, CR;
von Weitzel-Mudersbach, P;
(2020)
Moyamoya disease in a European setting: a Danish population-based study.
European Journal of Neurology
, 27
(12)
pp. 2446-2452.
10.1111/ene.14439.
|
|
Bishay, M;
Simchowitz, V;
HARRIS, K;
Macdonald, S;
De Coppi, P;
Klein, N;
Eaton, S;
(2020)
The Effect of Glutamine Supplementation on Microbial Invasion in Surgical Infants Requiring Parenteral Nutrition – Results of a Randomised Controlled Trial.
Journal of Parenteral and Enteral Nutrition
, 44
(1)
pp. 80-91.
10.1002/jpen.1700.
|
|
Bishop, CA;
Ricotti, V;
Sinclair, CDJ;
Evans, MRB;
Butler, JW;
Morrow, JM;
Hanna, MG;
... Janiczek, RL; + view all
(2018)
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.
Frontiers in Neurology
, 9
, Article 9. 10.3389/fneur.2018.00009.
|
|
|
Biswas, A;
Shouval, DS;
Griffith, A;
Goettel, JA;
Field, M;
Kang, YH;
Konnikova, L;
... Snapper, SB; + view all
(2018)
WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.
Nature Communications
, 9
, Article 1779. 10.1038/s41467-018-03670-6.
|
|
|
Bjellvi, J;
Cross, JH;
Gogou, M;
Leclercq, M;
Rheims, S;
Ryvlin, P;
Sperling, MR;
... Malmgren, K; + view all
(2021)
Classification of complications of epilepsy surgery and invasive diagnostic procedures: A proposed protocol and feasibility study.
Epilepsia
10.1111/epi.17040.
(In press).
|
|
Blackburn, E;
D’arco, F;
Devito, A;
Ioppolo, R;
Lorio, S;
Quirk, B;
Ganesan, V;
(2021)
Predictors of motor outcome after childhood arterial ischemic stroke.
Developmental Medicine & Child Neurology
10.1111/dmcn.14914.
(In press).
|
|
|
Blackwood, B;
Tume, LN;
Morris, KP;
Clarke, M;
McDowell, C;
Hemming, K;
Peters, MJ;
... Darnell, S; + view all
(2021)
Effect of a Sedation and Ventilator Liberation Protocol vs Usual Care on Duration of Invasive Mechanical Ventilation in Pediatric Intensive Care Units.
JAMA
, 326
(5)
p. 401.
10.1001/jama.2021.10296.
|
|
Bladen, Melanie;
Alderson, Lucy;
Thorpe, Nicola;
Cortina-Borja, Mario;
Main, Eleanor;
(2023)
Performance on the iSTEP and 10 m-ISWT in boys with haemophilia.
Haemophilia
10.1111/hae.14833.
(In press).
|
|
Bladen, M;
Main, E;
Chugh, D;
Liesner, R;
(2019)
Spinal dorsal rhizotomy plus concurrent left and right gastrocnemii releases in a 7‐year‐old child with haemophilia A and spastic cerebral palsy.
Haemophilia
, 25
(3)
e191-e195.
10.1111/hae.13715.
|
|
Blanco, E;
Izotova, N;
Booth, C;
Thrasher, AJ;
(2020)
Immune Reconstitution After Gene Therapy Approaches in Patients With X-Linked Severe Combined Immunodeficiency Disease.
Frontiers in Immunology
, 11
, Article 608653. 10.3389/fimmu.2020.608653.
|
|
|
Bloch, Kevin;
Geoffroy, Maya;
Taverne, Maxime;
van de Lande, Lara;
O’Sullivan, Eimear;
Liang, Ce;
Paternoster, Giovanna;
... Khonsari, Roman Hossein; + view all
(2024)
New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.
Orphanet Journal of Rare Diseases
, 19
, Article 204. 10.1186/s13023-024-03197-8.
|
|
|
Bluebond-Langner, M;
Hall, N;
Vincent, K;
Henderson, E;
Russell, J;
Beecham, E;
Bryan, G;
... Hargrave, D; + view all
(2020)
Parents' responses to prognostic disclosure at diagnosis of a child with a high‐risk brain tumor: Analysis of clinician‐parent interactions and implications for clinical practice.
Pediatric Blood & Cancer
, Article e28802. 10.1002/pbc.28802.
(In press).
|
|
Blümcke, I;
Coras, R;
Busch, RM;
Morita-Sherman, M;
Lal, D;
Prayson, R;
Cendes, F;
... Najm, I; + view all
(2021)
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Epilepsia
10.1111/epi.16899.
(In press).
|
|
|
Blümcke, I;
Coras, R;
Wefers, AK;
Capper, D;
Aronica, E;
Becker, A;
Honavar, M;
... Thom, M; + view all
(2019)
Review: Challenges in the histopathological classification of ganglioglioma and DNT: microscopic agreement studies and a preliminary genotype‐phenotype analysis.
Neuropathology and Applied Neurobiology
, 45
(2)
pp. 95-107.
10.1111/nan.12522.
|
|
Blundell, J;
Frisson, S;
Chakrapani, A;
Kearney, S;
Vijay, S;
MacDonald, A;
Gissen, P;
... Olson, A; + view all
(2018)
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
Cognitive Neuropsychology
, 35
(3-4)
pp. 120-147.
10.1080/02643294.2018.1443913.
|
|
Bockenhauer, D;
Kleta, R;
(2021)
Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.
Pediatric Nephrology
10.1007/s00467-021-05098-5.
(In press).
|
|
|
Bockenhauer, D;
Kleta, R;
(2018)
Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial?
Journal of the American Society of Nephrology
, 29
(3)
pp. 727-739.
10.1681/ASN.2017060600.
|
|
Bohlius, J;
Foster, C;
Naidu, G;
Sengayi, M;
Turkova, A;
(2018)
Cancer in adolescents and young adults living with HIV.
Current Opinion in HIV and AIDS
, 13
(3)
pp. 196-203.
10.1097/COH.0000000000000460.
|
|
Bolduc, V;
Foley, AR;
Solomon-Degefa, H;
Sarathy, A;
Donkervoort, S;
Hu, Y;
Chen, GS;
... Bönnemann, CG; + view all
(2019)
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight
, 4
(6)
10.1172/jci.insight.124403.
|
|
|
Boleti, OD;
Roussos, S;
Norrish, G;
Field, E;
Oates, S;
Tollit, J;
Nepali, G;
... Kaski, JP; + view all
(2023)
Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events.
International Journal of Cardiology
, 393
, Article 131405. 10.1016/j.ijcard.2023.131405.
(In press).
|
|
|
Bolton, SC;
Soran, V;
Marfa, MP;
Imrie, J;
Gissen, P;
Jahnova, H;
Sharma, R;
... Geberhiwot, T; + view all
(2022)
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Orphanet Journal of Rare Diseases
, 17
(1)
, Article 51. 10.1186/s13023-022-02200-4.
|
|
|
Bonthrone, Alexandra F;
Green, Dido;
Morgan, Angela T;
Mankad, Kshitij;
Clark, Christopher A;
Liégeois, Frédérique J;
(2023)
Attention and motor profiles in children with developmental coordination disorder: A neuropsychological and neuroimaging investigation.
Developmental Medicine & Child Neurology
10.1111/dmcn.15745.
(In press).
|
|
Boonsathorn, S;
Cheng, I;
Kloprogge, F;
Alonso, C;
Lee, C;
Doncheva, B;
Booth, J;
... Standing, JF; + view all
(2019)
Clinical Pharmacokinetics and Dose Recommendations for Posaconazole in Infants and Children.
Clinical Pharmacokinetics
, 58
(1)
pp. 53-61.
10.1007/s40262-018-0658-1.
|
|
|
Boonzaier, NR;
Hales, PW;
D'Arco, F;
Walters, BC;
Kaur, R;
Mankad, K;
Cooper, J;
... Clark, CA; + view all
(2020)
Quantitative MRI demonstrates abnormalities of the third ventricle subventricular zone in neurofibromatosis type-1 and sporadic paediatric optic pathway glioma.
NeuroImage: Clinical
, 28
, Article 102447. 10.1016/j.nicl.2020.102447.
|
|
|
Booth, J;
Margetts, B;
Bryant, W;
Issitt, R;
Hutchinson, C;
Martin, N;
Sebire, NJ;
(2021)
Machine Learning Approaches to Determine Feature Importance for Predicting Infant Autopsy Outcome.
Pediatric and Developmental Pathology
10.1177/10935266211001644.
(In press).
|
|
Borghi, A;
Rodgers, W;
Schievano, S;
Ponniah, A;
Jeelani, O;
Dunaway, D;
(2018)
Proof of Concept Study for the Design, Manufacturing, and Testing of a Patient-Specific Shape Memory Device for Treatment of Unicoronal Craniosynostosis.
The Journal of Craniofacial Surgery
, 29
(1)
pp. 45-48.
10.1097/SCS.0000000000004025.
|
|
Boros, C;
McCann, L;
Simou, S;
Cancemi, D;
Ambrose, N;
Pilkington, CA;
Cortina-Borja, M;
(2022)
Juvenile Dermatomyositis: what comes next? Long-term outcomes in childhood myositis from a patient perspective.
Pediatric Rheumatology
, 20
, Article 102. 10.1186/s12969-022-00754-y.
|
|
Borselle, D;
Davidson, J;
Loukogeorgakis, S;
De Coppi, P;
Patkowski, D;
(2024)
Thoracoscopic Stage Internal Traction Repair Reduces Time to Achieve Oesophageal Continuity in Long Gap Oesophageal Atresia.
European Journal of Pediatric Surgery
, 34
(1)
pp. 36-43.
10.1055/a-2235-8766.
|
|
Bosch i Ara, L;
Katugampola, H;
Dattani, MT;
(2021)
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.
Frontiers in Pediatrics
, 8
, Article 600962. 10.3389/fped.2020.600962.
|
|
|
Boshier, FAT;
Pang, J;
Penner, J;
Parker, M;
Alders, N;
Bamford, A;
Grandjean, L;
... Breuer, J; + view all
(2021)
Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patients.
Journal of Medical Virology
10.1002/jmv.27285.
(In press).
|
|
|
Boshier, FAT;
Venturini, C;
Stirrup, O;
Guerra-Assunção, JA;
Alcolea-Medina, A;
Becket, AH;
Byott, M;
... COG-UK HOCI Variant Substudy consortium*, The COVID-19 Genomics; + view all
(2021)
The Alpha variant was not associated with excess nosocomial SARS-CoV-2 infection in a multi-centre UK hospital study.
Journal of Infection
, 83
(6)
pp. 693-700.
10.1016/j.jinf.2021.09.022.
|
|
Bosi, GM;
Capelli, C;
Cheang, MH;
Delahunty, N;
Mullen, M;
Taylor, AM;
Schievano, S;
(2020)
A validated computational framework to predict outcomes in TAVI.
Scientific Reports
, 10
, Article 9906. 10.1038/s41598-020-66899-6.
|
|
|
Bosi, GM;
Capelli, C;
Cheang, MH;
Delahunty, N;
Mullen, M;
Taylor, AM;
Schievano, S;
(2018)
Population-specific material properties of the implantation site for transcatheter aortic valve replacement finite element simulations.
Journal of Biomechanics
, 71
pp. 236-244.
10.1016/j.jbiomech.2018.02.017.
|
|
|
Boso, Daniele;
Carraro, Eugenia;
Maghin, Edoardo;
Todros, Silvia;
Dedja, Arben;
Giomo, Monica;
Elvassore, Nicola;
... Piccoli, Martina; + view all
(2021)
Porcine Decellularized Diaphragm Hydrogel: A New Option for Skeletal Muscle Malformations.
Biomedicines
, 9
(7)
, Article 709. 10.3390/biomedicines9070709.
|
|
|
Botha, Johannes C;
Byott, Matthew;
Spyer, Moira J;
Grant, Paul R;
Gärtner, Kathleen;
Chen, Wilson X;
Burton, James;
... Nastouli, Eleni; + view all
(2023)
Sensitive HIV-1 DNA Pol Next-Generation Sequencing for the Characterisation of Archived Antiretroviral Drug Resistance.
Viruses
, 15
(9)
, Article 1811. 10.3390/v15091811.
|
|
Bouazza, Naïm;
Dokoumetzidis, Aristides;
Knibbe, Catherijne AJ;
de Wildt, Saskia N;
Ambery, Claire;
De Cock, Pieter;
Gasthuys, Elke;
... c4c Expert group, on Pharmacometrics; + view all
(2022)
General clinical and methodological considerations on the extrapolation of pharmacokinetics and optimisation of study protocols for small molecules and monoclonal antibodies in children.
British Journal of Clinical Pharmacology
, 88
(12)
pp. 4985-4996.
10.1111/bcp.15571.
|
|
Boumpouli, M;
Sauvage, EL;
Capelli, C;
Schievano, S;
Kazakidi, A;
(2021)
Characterization of Flow Dynamics in the Pulmonary Bifurcation of Patients With Repaired Tetralogy of Fallot: A Computational Approach.
Frontiers in Cardiovascular Medicine
, 8
, Article 703717. 10.3389/fcvm.2021.703717.
|
|
|
Bountziouka, V;
Cumberland, P;
Rahi, J;
(2021)
Impact of persisting amblyopia on socio–economic, health and well–being outcomes in adult life: findings from the UK Biobank study.
Value in Health
, 24
(11)
pp. 1603-1611.
10.1016/j.jval.2021.05.010.
|
|
Bourgeois, FT;
Gutierrez-Sacristan, A;
Keller, MS;
Liu, M;
Hong, C;
Bonzel, C-L;
Tan, ALM;
... Avillach, P; + view all
(2021)
International Analysis of Electronic Health Records of Children and Youth Hospitalized With COVID-19 Infection in 6 Countries.
JAMA Network Open
, 4
(6)
10.1001/jamanetworkopen.2021.12596.
|
|
|
Bourke, Niall J;
Demarchi, Célia;
De Simoni, Sara;
Samra, Ravjeet;
Patel, Maneesh C;
Kuczynski, Adam;
Mok, Quen;
... Sharp, David J; + view all
(2022)
Brain volume abnormalities and clinical outcomes following paediatric traumatic brain injur.
Brain
, Article awac130. 10.1093/brain/awac130.
(In press).
|
|
Bourke, JP;
Bueser, T;
Quinlivan, R;
(2018)
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X‐linked dilated cardiomyopathy.
Cochrane Database of Systematic Reviews
, 2018
(10)
, Article CD009068. 10.1002/14651858.CD009068.pub3.
|
|
Bourke, JP;
Watson, G;
Muntoni, F;
Spinty, S;
Roper, H;
Guglieri, M;
Speed, C;
... DMD Heart Protection study group, .; + view all
(2018)
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.
BMJ Open
, 8
(12)
, Article e022572. 10.1136/bmjopen-2018-022572.
|
|
|
Bowman, R;
Walters, B;
Smith, V;
Prise, KL;
Handley, SE;
Green, K;
Mankad, K;
... Thompson, DA; + view all
(2022)
Visual outcomes and predictors in optic pathway glioma: a single centre study.
Eye
10.1038/s41433-022-02096-1.
(In press).
|
|
Bowyer, Stuart A;
Bryant, William A;
Key, Daniel;
Booth, John;
Briggs, Lydia;
Spiridou, Anastassia;
Cortina-Borja, Mario;
... Sebire, Neil J; + view all
(2022)
Machine learning forecasting for COVID-19 pandemic-associated effects on paediatric respiratory infections.
Archives of Disease in Childhood
, 107
(12)
, Article e36. 10.1136/archdischild-2022-323822.
|
|
Boyd, N;
King, C;
Walker, IA;
Zadutsa, B;
Bernstein, M;
Ahmed, S;
Roy, A;
... McCollum, ED; + view all
(2018)
Usability Testing of a Reusable Pulse Oximeter Probe Developed for Health-Care Workers Caring for Children < 5 Years Old in Low-Resource Settings.
The American Journal of Tropical Medicine and Hygiene
, 99
(4)
pp. 1096-1104.
10.4269/ajtmh.18-0016.
|
|
|
Boyer, O;
Schaefer, F;
Haffner, D;
Bockenhauer, D;
Holtta, T;
Berody, S;
Webb, H;
... Vivarelli, M; + view all
(2021)
Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.
Nature Reviews Nephrology
, 17
pp. 277-289.
10.1038/s41581-020-00384-1.
|
|
Bozkurt, S;
Borghi, A;
Jeelani, O;
Dunaway, D;
Schievano, S;
(2020)
Computational Evaluation of Potential Correction Methods for Unicoronal Craniosynostosis.
The Journal of Craniofacial Surgery
, 31
(3)
pp. 692-696.
10.1097/SCS.0000000000006186.
|
|
Bozkurt, S;
Borghi, A;
Van de Lande, LS;
Jeelani, NUO;
Dunaway, DJ;
Schievano, S;
(2020)
Computational modelling of patient specific spring assisted lambdoid craniosynostosis correction.
Scientific Reports
, 10
, Article 18693. 10.1038/s41598-020-75747-6.
|
|
|
Brackel, Caroline LH;
Noij, Lieke CE;
Vijverberg, Susanne JH;
Legghe, Camille L;
Maitland-van der Zee, Anke H;
Van Goudoever, Johannes B;
Buonsenso, Danilo;
... Terheggen-Lagro, Suzanne WJ; + view all
(2024)
International Care programs for Pediatric Post-COVID Condition (Long COVID) and the way forward.
Pediatric Research
10.1038/s41390-023-03015-0.
(In press).
|
|
Brandner, SGP;
Jaunmuktane, Z;
Capper, D;
Jones, DTW;
Sill, M;
Hovestadt, V;
Schrimpf, D;
... Pfister, SM; + view all
(2018)
DNA methylation-based classification of central nervous system tumours.
Nature. International Journal of Science
, 555
pp. 469-474.
10.1038/nature26000.
|
|
Brannagan, TH;
Auer-Grumbach, M;
Berk, JL;
Briani, C;
Bril, V;
Coelho, T;
Damy, T;
... Ruberg, FL; + view all
(2021)
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable.
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 204. 10.1186/s13023-021-01834-0.
|
|
|
Brayson, D;
Holohan, S;
Bardswell, SC;
Arno, M;
Lu, H;
Jensen, HK;
Tran, PK;
... Kentish, JC; + view all
(2020)
Right Ventricle Has Normal Myofilament Function But Shows Perturbations in the Expression of Extracellular Matrix Genes in Patients With Tetralogy of Fallot Undergoing Pulmonary Valve Replacement.
Journal of the American Heart Association
, 9
(16)
10.1161/jaha.119.015342.
|
|
|
Breakey, Richard WF;
Mercan, Ezgi;
van de Lande, Lara S;
Sidpra, Jai;
Birgfeld, Craig;
Lee, Amy;
Schievano, Silvia;
... Hopper, Richard A; + view all
(2023)
Two-Center Review of Posterior Vault Expansion following a Staged or Expectant Treatment of Crouzon and Apert Craniosynostosis.
Plastic and Reconstructive Surgery
, 151
(3)
pp. 615-626.
10.1097/PRS.0000000000009925.
|
|
Breakey, RWF;
Knoops, PGM;
Borghi, A;
Rodriguez-Florez, N;
O'Hara, J;
James, G;
Dunaway, DJ;
... Jeelani, NUO; + view all
(2018)
Intracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis.
Plastic and Reconstructive Surgery
, 142
(5)
708e-717e.
10.1097/PRS.0000000000004843.
|
|
Brejchova, K;
Dudakova, L;
Skalicka, P;
Dobrovolny, R;
Masek, P;
Putzova, M;
Moosajee, M;
... Liskova, P; + view all
(2019)
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Investigative Ophthalmology & Visual Science
, 60
(8)
pp. 3084-3090.
10.1167/iovs.19-26930.
|
|
Brendel, C;
Rothe, M;
Santilli, G;
Charrier, S;
Stein, S;
Kunkel, H;
Abriss, D;
... Grez, M; + view all
(2018)
Non-Clinical Efficacy and Safety Studies on G1XCGD, a Lentiviral Vector for Ex Vivo Gene Therapy of X-Linked Chronic Granulomatous Disease.
Human Gene Therapy Clinical Development
, 29
(2)
pp. 69-79.
10.1089/humc.2017.245.
|
|
Brignole, Michele;
Cecchi, Franco;
Anastasakis, Aris;
Crotti, Lia;
Deharo, Jean Claude;
Elliott, Perry M;
Fedorowski, Artur;
... Wilde, Arthur; + view all
(2022)
Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management.
International Journal of Cardiology
10.1016/j.ijcard.2022.10.153.
(In press).
|
|
Brocklebank, V;
Kumar, G;
Howie, AJ;
Chandar, J;
Milford, DV;
Craze, J;
Evans, J;
... Kavanagh, D; + view all
(2020)
Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.
Kidney International
, 97
(6)
pp. 1260-1274.
10.1016/j.kint.2020.01.045.
|
|
|
Brogan, P;
Naden, R;
Ardoin, SP;
Cooper, JC;
De Benedetti, F;
Dicaire, JF;
Eleftheriou, D;
... Stone, JH; + view all
(2022)
The pediatric glucocorticoid toxicity index.
Seminars in Arthritis and Rheumatism
, 56
, Article 152068. 10.1016/j.semarthrit.2022.152068.
|
|
Brogan, P;
Yeung, RSM;
Cleary, G;
Rangaraj, S;
Kasapcopur, O;
Hersh, AO;
Li, S;
... PePRS Study Group, .; + view all
(2021)
Phase IIa Global Study Evaluating Rituximab for the Treatment of Pediatric Patients With Granulomatosis With Polyangiitis or Microscopic Polyangiitis.
Arthritis & Rheumatology
10.1002/art.41901.
(In press).
|
|
Brogan, PA;
Arch, B;
Hickey, H;
Anton, J;
Iglesias, E;
Baildam, E;
Mahmood, K;
... Eleftheriou, D; + view all
(2021)
Mycophenolate Mofetil Versus Cyclophosphamide for Remission Induction in Childhood Polyarteritis Nodosa: An Open-Label, Randomized, Bayesian Noninferiority Trial.
Arthritis & Rheumatology
, 73
(9)
pp. 1673-1682.
10.1002/art.41730.
|
|
Brogan, PA;
Hofer, M;
Kuemmerle-Deschner, JB;
Koné-Paut, I;
Roesler, J;
Kallinich, T;
Horneff, G;
... Laxer, RM; + view all
(2019)
Rapid and Sustained Long- Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin- Associated Periodic Syndrome Ages Five Years and Younger.
Arthritis & Rheumatology
, 71
(11)
pp. 1955-1963.
10.1002/art.41004.
|
|
|
Brogna, C;
Coratti, G;
Pane, M;
Ricotti, V;
Messina, S;
D'Amico, A;
Bruno, C;
... on behalf on the International DMD group, .; + view all
(2019)
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
PLoS One
, 14
(6)
, Article e0218683. 10.1371/journal.pone.0218683.
|
|
|
Brok, J;
Lopez-Yurda, M;
Tinteren, HV;
Treger, TD;
Furtwaengler, R;
Graf, N;
Bergeron, C;
... Spreafico, F; + view all
(2018)
Relapse of Wilms' Tumour and Detection Methods: a Retrospective Analysis of the 2001 Renal Tumour Study Group-international Society of Paediatric Oncology Wilms' Tumour Protocol Database.
The Lancet Oncology
, 19
(8)
pp. 1072-1081.
10.1016/S1470-2045(18)30293-6.
|
Brombal, L;
Kallon, G;
Jiang, J;
Savvidis, S;
De Coppi, P;
Urbani, L;
Forty, E;
... Endrizzi, M; + view all
(2019)
Monochromatic Propagation-Based Phase-Contrast Microscale Computed-Tomography System with a Rotating-Anode Source.
Physical Review Applied
, 11
, Article 034004. 10.1103/PhysRevApplied.11.034004.
|
|
|
Brown, JT;
Kotecha, T;
Steeden, JA;
Fontana, M;
Denton, CP;
Coghlan, JG;
Knight, DS;
(2021)
Reduced exercise capacity in patients with systemic sclerosis is associated with lower peak tissue oxygen extraction: a cardiovascular magnetic resonance-augmented cardiopulmonary exercise study.
Journal of Cardiovascular Magnetic Resonance
, 23
(1)
, Article 118. 10.1186/s12968-021-00817-1.
|
|
|
Brown, Kate L;
Agrawal, Shruti;
Kirschen, Matthew P;
Traube, Chani;
Topjian, Alexis;
Pressler, Ronit;
Hahn, Cecil D;
... Tasker, Robert C; + view all
(2022)
The brain in pediatric critical care: unique aspects of assessment, monitoring, investigations, and follow-up.
Intensive Care Medicine
, 48
pp. 535-547.
10.1007/s00134-022-06683-4.
|
|
Brown, Katherine L;
Moinuddin, Mohammed;
Jones, Alison;
Sheehan, Karen;
Wellman, Paul;
Rodrigues, Warren;
Ridout, Deborah;
(2023)
The Relationship Between Postoperative Complications and Children's Quality of Life: A Mediation Analysis to Explore the Role of Family Factors.
Pediatric Critical Care Medicine
, 24
(3)
pp. 194-203.
10.1097/PCC.0000000000003137.
|
|
Brown, SC;
Fernandez-Fuente, M;
Muntoni, F;
Vissing, J;
(2020)
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Journal of Neuropathology & Experimental Neurology
, 79
(12)
pp. 1257-1264.
10.1093/jnen/nlaa120.
|
|
Brown, JR;
Bharucha, T;
Breuer, J;
(2018)
Encephalitis diagnosis using metagenomics: application of next generation sequencing for undiagnosed cases.
Journal of Infection
, 76
(3)
pp. 225-240.
10.1016/j.jinf.2017.12.014.
|
|
|
Brown, JR;
Roy, S;
Shah, D;
Williams, CA;
Williams, R;
Dunn, H;
Hartley, J;
... Breuer, J; + view all
(2019)
Norovirus transmission dynamics in a paediatric hospital using full genome sequences.
Clinical Infectious Diseases
, 68
(2)
pp. 222-228.
10.1093/cid/ciy438.
|
|
|
Brown, KL;
Pagel, C;
Ridout, D;
Wray, J;
Anderson, D;
Barron, DJ;
Cassidy, J;
... Tsang, VT; + view all
(2019)
What are the important morbidities associated with paediatric cardiac surgery? A mixed methods study.
BMJ Open
, 9
(9)
, Article e028533. 10.1136/bmjopen-2018-028533.
|
|
|
Brown, KL;
Ridout, D;
Pagel, C;
Wray, J;
Anderson, D;
Barron, DJ;
Cassidy, J;
... Tsang, VT; + view all
(2019)
Incidence and risk factors for important early morbidities associated with pediatric cardiac surgery in a UK population.
The Journal of Thoracic and Cardiovascular Surgery
10.1016/j.jtcvs.2019.03.139.
(In press).
|
|
Brown, KL;
Ridout, DA;
Pagel, C;
Lakhanpaul, M;
Kakat, S;
Banks, V;
Franklin, R;
... Wray, J; + view all
(2018)
Validation of the Brief Developmental Assessment in pre-school children with heart disease.
Cardiology in the Young
, 28
(4)
pp. 571-581.
10.1017/S1047951117002773.
|
|
|
Brown, L-AK;
Ruis, C;
Clark, I;
Roy, S;
Brown, JR;
Albuquerque, AS;
Patel, SY;
... Lowe, DM; + view all
(2019)
A comprehensive characterization of chronic norovirus infection in immunodeficient hosts.
Journal of Allergy and Clinical Immunology
, 144
(5)
pp. 1450-1453.
10.1016/j.jaci.2019.07.036.
|
|
|
Bruijstens, Arlette L;
Lechner, Christian;
Flet-Berliac, Lorraine;
Deiva, Kumaran;
Neuteboom, Rinze F;
Hemingway, Cheryl;
Wassmer, Evangeline;
... Rostasy, K; + view all
(2020)
E.U. paediatric MOG consortium consensus: Part 1 - Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
European Journal of Paediatric Neurology
, 29
pp. 2-13.
10.1016/j.ejpn.2020.10.006.
|
|
Bruijstens, AL;
Wendel, EM;
Lechner, C;
Bartels, F;
Finke, C;
Breu, M;
Flet-Berliac, L;
... Neuteboom, RF; + view all
(2020)
E.U. paediatric MOG consortium consensus: Part 5 – Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
European Journal of Paediatric Neurology
10.1016/j.ejpn.2020.10.005.
(In press).
|
|
|
Brunet-Garcia, Laia;
Ja, Johnson;
Field, Ella;
Norrish, Gabrielle;
Tollit, Jenny;
Shoshan, Jessica;
French, Nichola;
... Kaski, Juan Pablo; + view all
(2022)
Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.
Pediatric Cardiology
, 43
pp. 1114-1121.
10.1007/s00246-022-02831-1.
|
|
Bruno, C;
Sauvage, E;
Simcock, I;
Redaelli, A;
Schievano, S;
Shroff, R;
Capelli, C;
(2022)
Computational investigation of the haemodynamics shows criticalities of central venous lines used for chronic haemodialysis in children.
Frontiers in Pediatrics
, 10
, Article 1055212. 10.3389/fped.2022.1055212.
|
|
Bryan, G;
Bluebond-Langner, M;
Kelly, D;
Kumpunen, S;
Oulton, K;
Gibson, F;
(2019)
Studying Children's Experiences in Interactions With Clinicians: Identifying Methods Fit for Purpose.
Qualitative Health Research
, 29
(3)
pp. 393-403.
10.1177/1049732318801358.
|
|
|
Bryant, D;
Liu, Y;
Datta, S;
Hariri, H;
Seda, M;
Anderson, G;
Peskett, E;
... Stanier, PM; + view all
(2018)
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Human Molecular Genetics
, 27
(11)
pp. 1927-1940.
10.1093/hmg/ddy101.
|
|
Bucciol, G;
Moens, L;
Payne, K;
Wollants, E;
Mekahli, D;
Levtchenko, E;
Vermeulen, F;
... Meyts, I; + view all
(2018)
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.
Journal of Clinical Immunology
, 38
(7)
pp. 748-752.
10.1007/s10875-018-0558-z.
|
|
Buck, S;
Bastos, F;
Baldeweg, T;
Vargha-Khadem, F;
(2020)
The Pair Test: A computerised measure of learning and memory.
Behavior Research Methods
10.3758/s13428-020-01470-9.
(In press).
|
|
|
Budinger, D;
Barral, S;
Soo, AKS;
Kurian, MA;
(2021)
The role of manganese dysregulation in neurological disease: emerging evidence.
The Lancet Neurology
, 20
(11)
pp. 956-968.
10.1016/S1474-4422(21)00238-6.
|
|
Bugiardini, E;
Bottani, E;
Marchet, S;
Poole, OV;
Beninca, C;
Horga, A;
Woodward, C;
... Pitceathly, RDS; + view all
(2020)
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Neurology Genetics
, 6
(1)
, Article e381. 10.1212/nxg.0000000000000381.
|
|
|
Bugiardini, E;
Pope, S;
Feichtinger, RG;
Poole, OV;
Pittman, AM;
Woodward, CE;
Heales, S;
... Pitceathly, RDS; + view all
(2019)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Journal Of Clinical Medicine
, 8
(7)
, Article 991. 10.3390/jcm8070991.
|
|
|
Bulik, Cynthia M;
Micali, Nadia;
Macdermod, Casey M;
Qi, Baiyu;
Munn-Chernoff, Melissa A;
Thornton, Laura M;
White, Jennifer;
... Crowley, James J; + view all
(2023)
ARFID Genes and Environment (ARFID-GEN): study protocol.
BMC Psychiatry
, 23
(1)
, Article 863. 10.1186/s12888-023-05266-x.
|
|
Burford, A;
Mackay, A;
Popov, S;
Vinci, M;
Carvalho, D;
Clarke, M;
Izquierdo, E;
... Jones, C; + view all
(2018)
The ten-year evolutionary trajectory of a highly recurrent paediatric high grade neuroepithelial tumour with MN1:BEND2 fusion.
Scientific Reports
, 8
, Article 1032. 10.1038/s41598-018-19389-9.
|
|
|
Burgess, R;
Wang, S;
McTague, A;
Boysen, KE;
Yang, X;
Zeng, Q;
Myers, KA;
... Scheffer, IE; + view all
(2019)
Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Annals of Neurology
, 86
(6)
pp. 821-831.
10.1002/ana.25619.
|
|
Burleigh, A;
Moraitis, E;
Al Masroori, E;
Al-Abadi, E;
Hong, Y;
Omoyinmi, E;
Titheradge, H;
... Eleftheriou, D; + view all
(2023)
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Frontiers in Immunology
, 14
, Article 1287258. 10.3389/fimmu.2023.1287258.
|
|
Burleigh, Alice;
Omoyinmi, Ebun;
Papadopoulou, Charalampia;
Al-Abadi, Eslam;
Hong, Ying;
Price-Kuehne, Fiona;
Moraitis, Elena;
... Brogan, Paul; + view all
(2023)
Genetic testing of Behçet’s disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.
Rheumatology
, Article kead628. 10.1093/rheumatology/kead628.
(In press).
|
|
Burlina, A;
Jones, SA;
Chakrapani, A;
Church, HJ;
Heales, S;
Wu, THY;
Morton, G;
... Cheillan, D; + view all
(2022)
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
International Journal of Neonatal Screening
, 8
(2)
, Article 25. 10.3390/ijns8020025.
|
|
Burnell, Matthew;
Gaba, Faiza;
Sobocan, Monika;
Desai, Rakshit;
Sanderson, Saskia;
Loggenberg, Kelly;
Gessler, Sue;
... Manchanda, Ranjit; + view all
(2022)
Randomised trial of population based BRCA testing in Ashkenazi Jews: Long term secondary lifestyle behavioural outcomes.
BJOG: An International Journal of Obstetrics & Gynaecology
, 129
(12)
pp. 1970-1980.
10.1111/1471-0528.17253.
|
|
Byrne, M;
Aughwane, R;
James, JL;
Hutchinson, C;
Arthurs, O;
Sebire, N;
Ourselin, S;
... Clark, AR; + view all
(2021)
Structure-function relationships in the feto-placental circulation from in silico interpretation of micro-CT vascular structures.
Journal of Theoretical Biology
, 517
, Article 110630. 10.1016/j.jtbi.2021.110630.
|
C
|
Cai, RA;
Chaplin, H;
Livermore, P;
Lee, M;
Sen, D;
Wedderburn, LR;
Wilkinson, N;
... Eleftheriou, D; + view all
(2019)
Development of a benchmarking toolkit for adolescent and young adult rheumatology services (BeTAR).
Pediatric Rheumatology
, 17
, Article 23. 10.1186/s12969-019-0323-8.
|
|
|
Cairns, G;
Burté, F;
Price, R;
O'Connor, E;
Toms, M;
Mishra, R;
Moosajee, M;
... Yu-Wai-Man, P; + view all
(2021)
A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.
Scientific Reports
, 11
, Article 20491. 10.1038/s41598-021-99781-0.
|
|
|
Calà, G;
Sina, B;
De Coppi, P;
Giobbe, GG;
Gerli, MFM;
(2023)
Primary human organoids models: Current progress and key milestones.
Frontiers in Bioengineering and Biotechnology
, 11
, Article 1058970. 10.3389/fbioe.2023.1058970.
|
|
Calcagni, G;
Limongelli, G;
D'Ambrosio, A;
Gesualdo, F;
Digilio, MC;
Baban, A;
Albanese, SB;
... Marino, B; + view all
(2018)
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Data Brief
, 16
pp. 649-654.
10.1016/j.dib.2017.11.085.
|
|
|
Calì, E;
Lin, SJ;
Rocca, C;
Sahin, Y;
Al Shamsi, A;
El Chehadeh, S;
Chaabouni, M;
... Saadi, NW; + view all
(2022)
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genetics in Medicine
10.1016/j.gim.2022.07.013.
(In press).
|
|
Campanilho-Marques, R;
Deakin, CT;
Simou, S;
Papadopoulou, C;
Wedderburn, LR;
Pilkington, CA;
Juvenile Dermatomyositis Research Group (JDRG);
(2020)
Retrospective analysis of infliximab and
adalimumab treatment in a large cohort of
juvenile dermatomyositis patients.
Arthritis Research & Therapy
, 22
(1)
, Article 79. 10.1186/s13075-020-02164-5.
|
|
|
Campbell, C;
Barohn, RJ;
Bertini, E;
Chabrol, B;
Comi, GP;
Darras, BT;
Finkel, RS;
... Clinical Evaluator Training Groups, .; + view all
(2020)
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
Journal of Comparative Effectiveness Research
, 9
(14)
10.2217/cer-2020-0095.
|
|
Campbell, Patrick;
Morton, Penny E;
Takeichi, Takuya;
Salam, Amr;
Roberts, Nerys;
Proudfoot, Laura E;
Mellerio, Jemima E;
... McGrath, John A; + view all
(2014)
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
The Journal of Investigative Dermatology
, 134
(10)
pp. 2570-2578.
10.1038/jid.2014.164.
|
|
Campinoti, S;
Gjinovci, A;
Ragazzini, R;
Zanieri, L;
Ariza-McNaughton, L;
Catucci, M;
Boeing, S;
... Bonfanti, P; + view all
(2020)
Reconstitution of a functional human thymus by postnatal stromal progenitor cells and natural whole-organ scaffolds.
Nature Communications
, 11
, Article 6372. 10.1038/s41467-020-20082-7.
|
|
|
Campion, T;
Quirk, B;
Cooper, J;
Phipps, K;
Toescu, S;
Aquilina, K;
Green, K;
... Mankad, K; + view all
(2021)
Surveillance imaging of grade 1 astrocytomas in children: can duration and frequency of follow-up imaging and the use of contrast agents be reduced?
Neuroradiology
, 63
pp. 953-958.
10.1007/s00234-020-02609-3.
|
|
Campos, LC;
Di Colo, G;
Dattani, V;
Braggins, H;
Kumararatne, D;
Williams, AP;
Alachkar, H;
... Burns, SO; + view all
(2021)
Long-term outcomes for adults with chronic granulomatous disease in the United Kingdom.
Journal of Allergy and Clinical Immunology
, 147
(3)
pp. 1104-1107.
10.1016/j.jaci.2020.08.034.
|
|
Cao, K;
Milmoe, N;
Cuckow, P;
Olsen, LH;
Johal, N;
Winyard, PJ;
Long, DA;
(2021)
Antenatal biological models in the characterisation and research of congenital lower urinary tract disorders.
Journal of Pediatric Urology
, 17
(1)
pp. 21-29.
10.1016/j.jpurol.2020.11.022.
|
|
Cao, KX;
Booth, A;
Ourselin, S;
David, AL;
Ashcroft, R;
(2018)
The Legal Frameworks that Govern Fetal Surgery in the United Kingdom, European Union and the United States.
Prenatal Diagnosis
, 38
(7)
pp. 475-481.
10.1002/pd.5267.
|
|
|
Capelli, C;
Sauvage, E;
Giusti, G;
Bosi, GM;
Ntsinjana, H;
Carminati, M;
Derrick, G;
... Schievano, S; + view all
(2018)
Patient-specific simulations for planning treatment in congenital heart disease.
Interface Focus
, 8
(1)
, Article 20170021. 10.1098/rsfs.2017.0021.
|
|
|
Capitanio, D;
Moriggi, M;
Torretta, E;
Barbacini, P;
De Palma, S;
Vigano, A;
Lochmueller, H;
... Gelfi, C; + view all
(2020)
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12527.
|
|
|
Captur, Gabriella;
Moon, James C;
Topriceanu, Constantin-Cristian;
Joy, George;
Swadling, Leo;
Hallqvist, Jenny;
Doykov, Ivan;
... UK COVIDsortium Investigators; + view all
(2022)
Plasma proteomic signature predicts who will get persistent symptoms following SARS-CoV-2 infection.
eBioMedicine
, Article 104293. 10.1016/j.ebiom.2022.104293.
(In press).
|
|
Captur, G;
Arbustini, E;
Bonne, G;
Syrris, P;
Mills, K;
Wahbi, K;
Mohiddin, SA;
... Moon, JC; + view all
(2018)
Lamin and the heart.
Heart
, 104
(6)
pp. 468-479.
10.1136/heartjnl-2017-312338.
|
|
|
Carceller, F;
Bautista, F;
Jiménez, I;
Hladun-Álvaro, R;
Giraud, C;
Bergamaschi, L;
Dandapani, M;
... Marshall, LV; + view all
(2018)
Outcome of children and adolescents with central nervous system tumors in phase I trials.
Journal of Neuro-Oncology
, 137
(1)
pp. 83-92.
10.1007/s11060-017-2698-z.
|
|
|
Cardenal-Muñoz, E;
Auvin, S;
Villanueva, V;
Cross, JH;
Zuberi, SM;
Lagae, L;
Aibar, JÁ;
(2021)
Guidance on Dravet Syndrome from Infant to Adult Care: Road Map for Treatment Planning in Europe.
Epilepsia Open
10.1002/epi4.12569.
(In press).
|
|
|
Carecchio, M;
Invernizzi, F;
Gonzàlez-Latapi, P;
Panteghini, C;
Zorzi, G;
Romito, L;
Leuzzi, V;
... Nardocci, N; + view all
(2019)
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Movement Disorders
10.1002/mds.27771.
(In press).
|
|
Carey, B;
Mercadante, V;
Fedele, S;
Glover, M;
Cale, C;
Porter, S;
(2018)
STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis–like disease.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
, 126
(5)
e252-e257.
10.1016/j.oooo.2018.07.006.
|
|
Carmignac, V;
Mignot, C;
Blanchard, E;
Kuentz, P;
Aubriot-Lorton, M-H;
Parker, VER;
Sorlin, A;
... Duvert-Lehembre, S; + view all
(2021)
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genetics in Medicine
10.1038/s41436-021-01161-6.
(In press).
|
|
|
Carnaghan, H;
James, C;
Charlesworth, P;
Ghionzoli, M;
Pereira, S;
Elkhouli, M;
Baud, D;
... Eaton, S; + view all
(2020)
Antenatal corticosteroids and outcomes in gastroschisis: A multicenter retrospective cohort study.
Prenatal Diagnosis
, 40
(8)
pp. 991-997.
10.1002/pd.5727.
|
|
|
Carnt, NA;
Pang, I;
Burdon, KP;
Calder, V;
Dart, JK;
Subedi, D;
Hardcastle, AJ;
(2021)
Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis.
Investigative Ophthalmology & Visual Science
, 62
(3)
, Article 33. 10.1167/iovs.62.3.33.
|
|
|
Carreno, G;
Boult, JKR;
Apps, JR;
Gonzalez-Meljem, JM;
Haston, S;
Guiho, R;
Stache, C;
... Martinez-Barbera, JP; + view all
(2019)
SHH pathway inhibition is protumourigenic in adamantinomatous craniopharyngioma.
Endocrine-Related Cancer
, 26
(3)
pp. 355-366.
10.1530/ERC-18-0538.
|
|
|
Carrington, Glenn;
Hau, Hoi Ting Abbi;
Kosta, Sarah;
Dugdale, Hannah F;
Muntoni, Francesco;
D'Amico, Adele;
Van den Bergh, Peter YK;
... Ochala, Julien; + view all
(2023)
Human Skeletal myopathy myosin mutations disrupt myosin head sequestration.
JCI Insight
, 8
(21)
, Article e172322. 10.1172/jci.insight.172322.
|
|
Castro-Villablanca, Felipe;
Moeller, Friederike;
Pujar, Suresh;
D'Arco, Felice;
Scott, Rod C;
Tahir, M Zubair;
Tisdall, Martin;
... Eltze, Christin; + view all
(2022)
Seizure outcome determinants in children after surgery for single unilateral lesions on MRI: role of preoperative ictal and interictal EEG.
Epilepsia
, 63
(12)
pp. 3168-3179.
10.1111/epi.17425.
|
|
Catanzano, M;
Bennett, SD;
Sanderson, C;
Patel, M;
Manzotti, G;
Kerry, E;
Coughtrey, AE;
... Shafran, R; + view all
(2020)
Brief psychological interventions for psychiatric disorders in young people with long term physical health conditions: A systematic review and meta-analysis.
Journal of Psychosomatic Research
, 136
, Article 110187. 10.1016/j.jpsychores.2020.110187.
|
|
Catanzano, M;
Bennett, SD;
Tibber, MS;
Coughtrey, AE;
Liang, H;
Heyman, I;
The Lucy Project Team, .;
(2021)
A Mental Health Drop-In Centre Offering Brief Transdiagnostic Psychological Assessment and Treatment in a Paediatric Hospital Setting: A One-Year Descriptive Study.
International Journal of Environmental Research and Public Health
, 18
(10)
, Article 5369. 10.3390/ijerph18105369.
|
|
|
Cearns, MD;
Hettige, S;
De Coppi, P;
Thompson, DNP;
(2018)
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.
Journal of Neurosurgery: Pediatrics
, 22
(5)
pp. 467-599.
10.3171/2018.5.PEDS17582.
|
|
Cerbone, M;
Visser, J;
Bulwer, C;
Ederies, A;
Vallabhaneni, K;
Ball, S;
Kamali-Asl, I;
... Spoudeas, HA; + view all
(2021)
Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline.
The Lancet Child & Adolescent Health
, 5
(9)
pp. 662-676.
10.1016/S2352-4642(21)00088-2.
|
|
Cerbone, Manuela;
Katugampola, Harshini;
Simpson, Helen L;
Dattani, Mehul T;
(2022)
Approach to the Patient: Management of Pituitary Hormone Replacement Through Transition.
The Journal of Clinical Endocrinology & Metabolism
, 107
(7)
pp. 2077-2091.
10.1210/clinem/dgac129.
|
|
Cerbone, M;
Clement, E;
McClatchey, M;
Dobbin, J;
Gilbert, C;
Keane, M;
Boukhibar, L;
... Shah, P; + view all
(2019)
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Hormone Research in Paediatrics
, 2019
(92)
pp. 64-70.
10.1159/000496545.
|
|
Chadda, KR;
Holland, K;
Scoffings, D;
Dean, A;
Pickles, JC;
Behjati, S;
Jacques, TS;
... Genomics England Research Consortium, .; + view all
(2021)
A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.
Neuropathology and Applied Neurobiology
10.1111/nan.12701.
(In press).
|
|
|
Chalia, Maria;
Hartmann, Hans;
Pressler, Ronit;
(2022)
Practical Approaches to the Treatment of Neonatal Seizures.
Current Treatment Options in Neurology
, 24
pp. 111-127.
10.1007/s11940-022-00711-w.
|
|
Chalkiadis, G;
Goobie, S;
Walker, S;
(2019)
Are opioids pediatric anesthesiologists' sword of Damocles? With great power comes great responsibility and risk.
Pediatric Anesthesia
, 29
(6)
pp. 544-546.
10.1111/pan.13659.
|
|
Chambers, Pinkie;
Wagner, Anna Dorothea;
Almossawi, Ofran;
Jenkinson, Simon;
Brooks, Gabriel A;
Bridgewater, John;
(2024)
Biological sex and chemotherapy treatment delays in patients with colorectal cancer.
Colorectal Cancer
, 13
(1)
, Article 2352410. 10.1080/1758194X.2024.2352410.
|
|
Chan, Melanie Mai Yee;
Sadeghi-Alavijeh, Omid;
Lopes, Filipa M;
Hilger, Alina C;
Stanescu, Horia C;
Voinescu, Catalin D;
Beaman, Glenda M;
... Gale, Daniel P; + view all
(2022)
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
eLife
, 11
, Article e74777. 10.7554/eLife.74777.
|
|
Chan, BHC;
Moosajee, M;
Rainger, J;
(2021)
Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure.
Frontiers in Cell and Developmental Biology
, 8
, Article 620774. 10.3389/fcell.2020.620774.
|
|
|
Chan, HW;
Schiff, ER;
Tailor, VK;
Malka, S;
Neveu, MM;
Theodorou, M;
Moosajee, M;
(2021)
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Genes
, 12
(4)
, Article 508. 10.3390/genes12040508.
|
|
|
Chandler, N;
Best, S;
Hayward, J;
Faravelli, F;
Mansour, S;
Kivuva, E;
Tapon, D;
... Chitty, LS; + view all
(2018)
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Genetics in Medicine
, 20
pp. 1430-1437.
10.1038/gim.2018.30.
|
|
|
Channon-Wells, S;
Kwok, M;
Booth, J;
Bamford, A;
Konstanty, P;
Hatcher, J;
Dixon, G;
... Irwin, AD; + view all
(2021)
The use of continuous electronic prescribing data to infer trends in antimicrobial consumption and estimate the impact of stewardship interventions in hospitalized children.
Journal of Antimicrobial Chemotherapy
10.1093/jac/dkab187.
|
|
|
Chanpong, A;
Cronin, H;
Rampling, D;
Ashworth, M;
Eaton, S;
Rybak, A;
Saliakellis, E;
... Thapar, N; + view all
(2022)
Enhancing the utility of antroduodenal manometry in pediatric intestinal pseudo-obstruction.
Neurogastroenterology and Motility
, 34
(5)
, Article e14259. 10.1111/nmo.14259.
|
|
Chanpong, Atchariya;
Morris, E;
Biassoni, L;
Easty, M;
Goodwin, B;
Lindley, KJ;
Rybak, A;
... Borelli, O; + view all
(2023)
Small-bowel transit scintigraphy in children with paediatric intestinal pseudo-obstruction.
American Journal of Gastroenterology
, 118
(12)
pp. 2267-2275.
10.14309/ajg.0000000000002373.
|
|
Chapman, Rebecca J;
Ghasemi, David R;
Andreiuolo, Felipe;
Zschernack, Valentina;
Tauziede Espariat, Arnault;
Buttarelli, Francesca R;
Giangaspero, Felice;
... Biomarkers of Ependymoma in Childhood and Adolescence (BIOMECA); + view all
(2023)
Optimising biomarkers for accurate ependymoma diagnosis, prognostication and stratification within International Clinical Trials: A BIOMECA study.
Neuro-Oncology
, Article noad055. 10.1093/neuonc/noad055.
|
|
Chapman, S;
Wray, J;
Oulton, K;
Peters, M;
(2018)
‘Death is not the answer’: the challenge of measuring the impact of early warning systems.
[Editorial comment].
Archives of Disease in Childhood
, 104
(3)
pp. 210-211.
10.1136/archdischild-2018-315392.
|
|
|
Chapman, SM;
Oulton, K;
Peters, MJ;
Wray, J;
(2019)
Missed opportunities: incomplete and inaccurate recording of paediatric early warning scores.
Archives of Disease in Childhood
, 104
(12)
pp. 1208-1213.
10.1136/archdischild-2018-316248.
|
|
|
Chappell, E;
Kohns Vasconcelos, M;
Goodall, RL;
Galli, L;
Goetghebuer, T;
Noguera-Julian, A;
Rodrigues, LC;
... European Pregnancy and Paediatric Infections Cohort Collaboratio; + view all
(2021)
Children living with HIV in Europe: do migrants have worse treatment outcomes?
HIV Medicine
10.1111/hiv.13177.
(In press).
|
|
Chappell, E;
Group Authorship: The European Pregnancy and Paediatric Infectio;
(2021)
Malignancies among children and young people with HIV in Western and Eastern Europe and Thailand.
AIDS
10.1097/QAD.0000000000002965.
(In press).
|
|
Chari, A;
Budhdeo, S;
Sparks, R;
Barone, DG;
Marcus, HJ;
Pereira, EAC;
Tisdall, MM;
(2021)
Brain–Machine Interfaces: The Role of the Neurosurgeon.
World Neurosurgery
, 146
pp. 140-147.
10.1016/j.wneu.2020.11.028.
|
|
Chari, A;
Sedlacik, J;
Seunarine, K;
Piper, RJ;
Hales, P;
Shmueli, K;
Mankad, K;
... Carmichael, DW; + view all
(2023)
Epileptogenic Tubers Are Associated with Increased Kurtosis of Susceptibility Values: A Combined Quantitative Susceptibility Mapping and Stereoelectroencephalography Pilot Study.
American Journal of Neuroradiology
10.3174/ajnr.A7929.
(In press).
|
|
Chari, Aswin;
Adler, Sophie;
Wagstyl, Konrad;
Seunarine, Kiran;
Marcus, Hani;
Baldeweg, Torsten;
Tisdall, Martin;
(2022)
IDEAL approach to the evaluation of machine learning technology in epilepsy surgery: protocol for the MAST trial.
BMJ Surgery, Interventions, & Health Technologies
, 4
(1)
, Article e000109. 10.1136/bmjsit-2021-000109.
|
|
|
Chari, Aswin;
Adler, Sophie;
Wagstyl, Konrad;
Seunarine, Kiran;
Tahir, M Zubair;
Moeller, Friederike;
Thornton, Rachel;
... Tisdall, Martin M; + view all
(2023)
Lesion detection in epilepsy surgery: Lessons from a prospective evaluation of a machine learning algorithm.
Developmental Medicine & Child Neurology
10.1111/dmcn.15727.
(In press).
|
|
Chari, Aswin;
Seunarine, Kiran K;
He, Xiaosong;
Tisdall, Martin M;
Clark, Christopher A;
Bassett, Dani S;
Scott, Rod C;
(2022)
Drug-resistant focal epilepsy in children is associated with increased modal controllability of the whole brain and epileptogenic regions.
Communications Biology
, 5
, Article 394. 10.1038/s42003-022-03342-8.
|
|
Chari, A;
Mallucci, C;
Whitelaw, A;
Aquilina, K;
(2021)
Intraventricular haemorrhage and posthaemorrhagic ventricular dilatation: moving beyond CSF diversion.
Child's Nervous System
10.1007/s00381-021-05206-8.
(In press).
|
|
|
Chari, A;
Tisdall, MM;
Marcus, HJ;
(2020)
Letter to the Editor. Systematic and safe approaches to innovation in pediatric pinning.
Journal of Neurosurgery: Pediatrics
, 26
(5)
pp. 601-602.
10.3171/2020.5.PEDS20375.
|
|
Charron, P;
Elliott, PM;
Gimeno, JR;
Caforio, ALP;
Kaski, JP;
Tavazzi, L;
Tendera, M;
... Maggioni, AP; + view all
(2018)
The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.
European Heart Journal
, 39
(20)
pp. 1784-1793.
10.1093/eurheartj/ehx819.
|
 |
|
Chartier, M-E;
Deheragoda, M;
Gattens, M;
Dhawan, A;
Heaton, N;
Booth, C;
Hadzic, N;
(2021)
Successful Auxiliary Liver Transplant Followed by Hematopoietic Stem Cell Transplantation in X-Linked Lymphoproliferative Disease Type 1.
Liver Transplantation
, 27
(3)
pp. 450-455.
10.1002/lt.25898.
|
|
Chavaz, L;
Janssens, GO;
Bolle, S;
Mandeville, H;
Ramos-Albiac, M;
Van Beek, K;
Benghiat, H;
... von Bueren, AO; + view all
(2022)
Neurological Symptom Improvement After Re-Irradiation in Patients With Diffuse Intrinsic Pontine Glioma: A Retrospective Analysis of the SIOP-E-HGG/DIPG Project.
Frontiers in Oncology
, 12
, Article 926196. 10.3389/fonc.2022.926196.
|
|
|
Chawla, A;
Ray, S;
Matettore, A;
Peters, MJ;
(2019)
Arterial carboxyhaemoglobin levels in children admitted to PICU: A retrospective observational study.
PLoS One
, 14
(3)
, Article e0209452. 10.1371/journal.pone.0209452.
|
|
|
Chawner, SJRA;
Owen, MJ;
Holmans, P;
Raymond, FL;
Skuse, D;
Hall, J;
van den Bree, MBM;
(2019)
Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.
Lancet Psychiatry
, 6
(6)
pp. 493-505.
10.1016/S2215-0366(19)30123-3.
|
|
Cheang, MH;
Barber, NJ;
Khushnood, A;
Hauser, JA;
Kowalik, GT;
Steeden, JA;
Quail, MA;
... Muthurangu, V; + view all
(2018)
A comprehensive characterization of myocardial and vascular phenotype in pediatric chronic kidney disease using cardiovascular magnetic resonance imaging.
Journal of Cardiovascular Magnetic Resonance
, 20
(1)
, Article 24. 10.1186/s12968-018-0444-0.
|
|
|
Cheang, MH;
Kowalik, GT;
Quail, MA;
Steeden, JA;
Hothi, D;
Tullus, K;
Muthurangu, V;
(2019)
The cardiovascular phenotype of childhood hypertension: a cardiac magnetic resonance study.
Pediatric Radiology
, 49
(6)
pp. 727-736.
10.1007/s00247-019-04393-6.
|
|
|
Chelban, V;
Alsagob, M;
Kloth, K;
Chirita-Emandi, A;
Vandrovcova, J;
Maroofian, R;
Davagnanam, I;
... Kaya, N; + view all
(2019)
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
European Journal of Neurology
10.1111/ene.14082.
(In press).
|
|
|
Cheloni, Riccardo;
Jackson, Daniel;
Moosajee, Mariya;
(2022)
A Natural History Study of RP2-Related Retinopathy.
Journal of Clinical Medicine
, 11
(23)
, Article 6877. 10.3390/jcm11236877.
|
|
Chen, JJ;
Huda, S;
Hacohen, Y;
Levy, M;
Lotan, I;
Wilf-Yarkoni, A;
Stiebel-Kalish, H;
... Marignier, R; + view all
(2022)
Association of Maintenance Intravenous Immunoglobulin with Prevention of Relapse in Adult Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.
JAMA Neurology
, 79
(5)
pp. 518-525.
10.1001/jamaneurol.2022.0489.
|
|
Chen, Z;
Gustavsson, EK;
Macpherson, H;
Anderson, C;
Clarkson, C;
Rocca, C;
Self, E;
... Ptáček, LJ; + view all
(2024)
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Movement Disorders
10.1002/mds.29704.
(In press).
|
|
Chen, Zhongbo;
Reynolds, Regina H;
Pardiñas, Antonio F;
Gagliano Taliun, Sarah A;
van Rheenen, Wouter;
Lin, Kuang;
Shatunov, Aleksey;
... Al-Chalabi, Ammar; + view all
(2023)
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiology of Disease
, 180
, Article 106082. 10.1016/j.nbd.2023.106082.
|
|
Chen, YH;
Eskandarpour, M;
Zhang, X;
Galatowicz, G;
Greenwood, J;
Lightman, S;
Calder, V;
(2021)
Small-molecule antagonist of VLA-4 (GW559090) attenuated neuro-inflammation by targeting Th17 cell trafficking across the blood-retinal barrier in experimental autoimmune uveitis.
Journal of Neuroinflammation
, 18
, Article 49. 10.1186/s12974-021-02080-8.
|
|
|
Chen, Z;
Zhang, D;
Reynolds, RH;
Gustavsson, EK;
García-Ruiz, S;
D'Sa, K;
Fairbrother-Browne, A;
... Ryten, M; + view all
(2021)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature Communications
, 12
, Article 2076. 10.1038/s41467-021-22262-5.
|
|
|
Cheong, RCT;
Jephson, C;
Frauenfelder, C;
Cavalli, L;
Moshal, K;
Butler, CR;
Wyatt, ME;
(2021)
Otolaryngologic Manifestations in Pediatric Inflammatory Multisystem Syndrome Temporally Associated With COVID-19.
JAMA Otolaryngology-Head and Neck Surgery
, 147
(5)
pp. 482-484.
10.1001/jamaoto.2020.5698.
|
|
Chesher, D;
Oddy, M;
Darbar, U;
Sayal, P;
Casey, A;
Ryan, A;
Sechi, A;
... Murphy, E; + view all
(2018)
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Journal of Inherited Metabolic Disease
, 41
(5)
pp. 865-876.
10.1007/s10545-018-0147-6.
|
|
|
Chetty, Kritika;
Cheng, Iek;
Kaliakatsos, Marios;
Gonzalez-Granado, Luis Ignacio;
Klapsa, Dimitra;
Martin, Javier;
Bamford, Alasdair;
... Booth, Claire; + view all
(2022)
Case report: Novel treatment regimen for enterovirus encephalitis in SCID.
Frontiers in Immunology
, 13
, Article 930031. 10.3389/fimmu.2022.930031.
|
|
Cheung, CY;
Mok, V;
Foster, PJ;
Trucco, E;
Chen, C;
Wong, TY;
(2021)
Retinal imaging in Alzheimer's disease.
Journal of Neurology, Neurosurgery & Psychiatry
, 92
(9)
pp. 983-994.
10.1136/jnnp-2020-325347.
|
|
|
Chhabda, S;
Sudhakar, S;
Mankad, K;
Jorgensen, M;
Carceller, F;
Jacques, TS;
Merve, A;
... D'Arco, F; + view all
(2021)
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Child's Nervous System
, 37
pp. 2375-2379.
10.1007/s00381-020-04986-9.
|
|
Chia, R;
Sabir, MS;
Bandres-Ciga, S;
Saez-Atienzar, S;
Reynolds, RH;
Gustavsson, E;
Walton, RL;
... Scholz, SW; + view all
(2021)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Nature Genetics
, 53
pp. 294-30353.
10.1038/s41588-021-00785-3.
|
|
Chieffo, Daniela PR;
Moriconi, Federica;
Pane, Marika;
Lucibello, Simona;
Ferraroli, Elisabetta;
Norcia, Giulia;
Ricci, Martina;
... Mercuri, Eugenio; + view all
(2023)
A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?
Journal of Clinical Medicine
, 12
(2)
, Article 403. 10.3390/jcm12020403.
|
|
Chiesa, Robert;
Georgiadis, Christos;
Syed, Farhatullah;
Zhan, Hong;
Etuk, Annie;
Gkazi, Soragia Athina;
Preece, Roland;
... Base-Edited, CAR T Group; + view all
(2023)
Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia.
New England Journal of Medicine
, 389
pp. 899-910.
10.1056/NEJMoa2300709.
|
|
Chivers, Sian;
Cleary, Aoife;
Knowles, Rachel;
Babu-Narayan, Sonya V;
Simpson, John M;
Nashat, Heba;
Dimopoulos, Konstantinos;
... Daubeney, Piers Ef; + view all
(2023)
COVID-19 in congenital heart disease (COaCHeD) study.
Open Heart
, 10
(2)
, Article e002356. 10.1136/openhrt-2023-002356.
|
|
Choi, SungWoo;
Ferrari, Giulia;
Moyle, Louise A;
Mackinlay, Kirsty;
Naouar, Naira;
Jalal, Salma;
Benedetti, Sara;
... Tedesco, Francesco Saverio; + view all
(2022)
Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling.
EMBO Molecular Medicine
, 2022
, Article e14526. 10.15252/emmm.202114526.
(In press).
|
|
Choida, V;
Hall-Craggs, M;
Jebson, B;
Leandro, M;
Fisher, C;
Wedderburn, L;
Ciurtin, C;
(2020)
Biomarkers of response to biologic therapy in juvenile idiopathic arthritis.
Frontiers in Pharmacology
10.3389/fphar.2020.635823.
(In press).
|
 |
|
Chopra, R;
Preston, GC;
Keenan, TDL;
Mulholland, P;
Patel, PJ;
Balaskas, K;
Hamilton, RD;
(2021)
Intravitreal injections: past trends and future projections within a UK tertiary hospital.
Eye
10.1038/s41433-021-01646-3.
|
|
|
Choquet, H;
Khawaja, AP;
Jiang, C;
Yin, J;
Melles, RB;
Glymour, MM;
Hysi, PG;
(2022)
Association between Myopic Refractive Error and Primary Open-Angle Glaucoma: A 2-Sample Mendelian Randomization Study.
JAMA Ophthalmology
, 140
(9)
pp. 864-871.
10.1001/jamaophthalmol.2022.2762.
|
|
Choquet, H;
Melles, RB;
Yin, J;
Hoffmann, TJ;
Thai, KK;
Kvale, MN;
Banda, Y;
... Jorgenson, E; + view all
(2020)
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
Communications Biology
, 3
, Article 301. 10.1038/s42003-020-1037-7.
|
|
|
Choudhury, P;
Spaull, R;
Amin, S;
Mallick, AA;
Patel, JS;
O'Callaghan, F;
Lux, AL;
(2020)
Prophylactic Antiepileptic Treatment in Tuberous Sclerosis.
Pediatric Neurology
, 110
pp. 100-101.
10.1016/j.pediatrneurol.2020.03.017.
|
|
Chromek, M;
Jungner, Å;
Rudolfson, N;
Ley, D;
Bockenhauer, D;
Hagander, L;
(2020)
Hyponatraemia despite isotonic maintenance fluid therapy: a time series intervention study.
Archives of Disease in Childhood
10.1136/archdischild-2019-318555.
(In press).
|
|
|
Chu, Wing Sum;
Ng, Joanne;
Waddington, Simon N;
Kurian, Manju A;
(2024)
Gene therapy for neurotransmitter-related disorders.
Journal of Inherited Metabolic Diseases
, 47
(1)
pp. 176-191.
10.1002/jimd.12697.
|
|
Chua, SYL;
Khawaja, AP;
Desai, P;
Rahi, JS;
Day, AC;
Hammond, CJ;
Khaw, PT;
(2021)
The Association of Ambient Air Pollution With Cataract Surgery in UK Biobank Participants: Prospective Cohort Study.
Investigative Ophthalmology & Visual Science
, 62
(15)
, Article 7. 10.1167/iovs.62.15.7.
|
|
|
Chua, SYL;
Khawaja, AP;
Morgan, J;
Strouthidis, N;
Reisman, C;
Dick, AD;
Khaw, PT;
... for the UK Biobank Eye and Vision Consortium, .; + view all
(2019)
The Relationship Between Ambient Atmospheric Fine Particulate Matter (PM₂.₅) and Glaucoma in a Large Community Cohort.
nvestigative Ophthalmology & Visual Science
, 60
(14)
pp. 4915-4923.
10.1167/iovs.19-28346.
|
|
|
Chugh, Deepti;
Thorpe, Nicola;
Alderson, Lucy;
Main, Eleanor;
Bladen, Melanie;
(2022)
Reliability of the submaximal iSTEP performance test in children with haemophilia.
Haemophilia
, 28
(1)
e5-e8.
10.1111/hae.14436.
|
|
Cif, L;
Demailly, D;
Lin, J-P;
Barwick, KE;
Sa, M;
Abela, L;
Malhotra, S;
... Kurian, MA; + view all
(2020)
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
, 143
(11)
pp. 3242-3261.
10.1093/brain/awaa304.
|
|
Cinar, Ovgu Kul;
Romano, Micol;
Guzel, Ferhat;
Brogan, Paul A;
Demirkaya, Erkan;
(2022)
Paediatric Behcet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics.
Journal of Clinical Medicine
, 11
(5)
, Article 1278. 10.3390/jcm11051278.
|
|
Cinar, OK;
Marlais, M;
Al Obaidi, M;
Cheng, IL;
Tullus, K;
Brogan, P;
Moraitis, E;
(2020)
Ofatumumab use in juvenile systemic lupus erythematosus: A single centre experience.
[Letter].
Lupus
10.1177/0961203320981137.
(In press).
|
|
|
Cipriani, V;
Pontikos, N;
Arno, G;
Sergouniotis, PI;
Lenassi, E;
Thawong, P;
Danis, D;
... Smedley, D; + view all
(2020)
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes
, 11
(4)
, Article 460. 10.3390/genes11040460.
|
|
|
Cisterna, Alejandro;
González-Vidal, Aurora;
Ruiz, Daniel;
Ortiz, Jordi;
Gómez-Pascual, Alicia;
Chen, Zhongbo;
Nalls, Mike;
... Botía, Juan A; + view all
(2022)
PhenoExam: gene set analyses through integration of different phenotype databases.
BMC Bioinformatics
, 23
(1)
, Article 567. 10.1186/s12859-022-05122-x.
|
|
Ciurtin, C;
Cho, Y;
Al-Obaidi, M;
Jury, E;
Price, E;
(2021)
Barriers to translational research in Sjӧgren’s syndrome with childhood onset; challenges of recognising and diagnosing an orphan rheumatic disease.
Lancet Rheumatology
, 3
(2)
e138-e148.
10.1016/S2665-9913(20)30393-3.
|
|
Clark, AE;
Biffi, B;
Sivera, R;
Dall'Asta, A;
Fessey, L;
Wong, T-L;
Paramasivam, G;
... Lees, CC; + view all
(2020)
Developing and testing an algorithm for automatic segmentation of the fetal face from three-dimensional ultrasound images.
Royal Society Open Science
, 7
(11)
, Article 201342. 10.1098/rsos.201342.
|
|
|
Clarke, Harrison;
Morris, Walter;
Catanzano, Matteo;
Bennett, Sophie;
Coughtrey, Anna;
Heyman, Isobel;
Liang, Holan;
... Batura, Neha; + view all
(2022)
Cost-effectiveness of a mental health drop-in center for young people with long-term physical conditions.
BMC Health Services Research
, 22
, Article 518. 10.1186/s12913-022-07901-x.
|
|
Clarke, E;
Bashorun, AO;
Okoye, M;
Umesi, A;
Badjie Hydara, M;
Adigweme, I;
Dhere, R;
... Lamola, S; + view all
(2020)
Safety and immunogenicity of a novel 10-valent pneumococcal conjugate vaccine candidate in adults, toddlers, and infants in The Gambia—Results of a phase 1/2 randomized, double-blinded, controlled trial.
Vaccine
, 38
(2)
pp. 399-410.
10.1016/j.vaccine.2019.08.072.
|
|
Clarke, K;
Campbell, C;
Omoyinmi, E;
Hong, Y;
Al Obaidi, M;
Sebire, N;
Brogan, PA;
(2019)
Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2).
Pediatric Rheumatology
, 17
, Article 39. 10.1186/s12969-019-0334-5.
|
|
|
Clarke, M;
Mackay, A;
Ismer, B;
Pickles, JC;
Tatevossian, RG;
Newman, S;
Bale, TA;
... Jones, C; + view all
(2020)
Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes.
Cancer Discovery
, 10
(7)
pp. 942-963.
10.1158/2159-8290.CD-19-1030.
|
|
Clarke, M;
Sargent, J;
Cooper, R;
Aberbach, G;
McLaughlin, L;
Panesar, G;
Woghiren, A;
... Swettenham, J; + view all
(2022)
Development and testing of the eye-pointing classification scale for children with cerebral palsy.
Disability and Rehabilitation
, 44
(8)
pp. 1451-1456.
10.1080/09638288.2020.1800834.
|
|
Cleary, M;
Davison, J;
Gould, R;
Geberhiwot, T;
Hughes, D;
Mercer, J;
Morrison, A;
... Stepien, KM; + view all
(2021)
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Orphanet Journal of Rare Diseases
, 16
, Article 38. 10.1186/s13023-021-01675-x.
|
|
|
Clesham, Katherine;
Walf-Vorderwülbecke, Vanessa;
Gasparoli, Luca;
Virely, Clemence;
Cantilena, Sandra;
Tsakaneli, Alexia;
Inglott, Sarah;
... Williams, Owen; + view all
(2022)
Identification of a c-MYB-directed therapeutic for acute myeloid leukemia.
Leukemia
10.1038/s41375-022-01554-9.
(In press).
|
|
|
Clesham, K;
Dowse, R;
Samarasinghe, S;
(2018)
Upfront Matched Unrelated Donor Transplantation in Aplastic Anemia.
Hematology/Oncology Clinics of North America
, 32
(4)
pp. 619-628.
10.1016/j.hoc.2018.03.004.
|
|
Clesham, K;
Rao, V;
Bartram, J;
Ancliff, P;
Ghorashian, S;
O'Connor, D;
Pavasovic, V;
... Vora, A; + view all
(2020)
Blinatumomab for infant acute lymphoblastic leukemia.
Blood
, 135
(17)
pp. 1501-1504.
10.1182/blood.2019004008.
|
|
Coats, CJ;
Heywood, WE;
Virasami, A;
Ashrafi, N;
Syrris, P;
dos Remedios, C;
Treibel, TA;
... Elliott, PM; + view all
(2018)
Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy.
Circulation: Genomic and Precision Medicine
, 11
(12)
, Article e001974. 10.1161/CIRCGEN.117.001974.
|
|
Cococcioni, L;
Fitzke, H;
Menys, A;
Gaunt, T;
Kumar, S;
Kiparissi, F;
Rampling, D;
... Watson, TA; + view all
(2021)
Quantitative assessment of terminal ileum motility on MR enterography in Crohn disease: a feasibility study in children.
European Radiology
, 31
pp. 775-784.
10.1007/s00330-020-07084-1.
|
|
Cohen, NT;
Cross, JH;
Arzimanoglou, A;
Berkovic, SF;
Kerrigan, JF;
Miller, IP;
Webster, E;
... Hypothalamic Hamartoma writing group; + view all
(2021)
Hypothalamic Hamartomas: Evolving Understanding and Management.
Neurology
, 97
(18)
pp. 864-873.
10.1212/WNL.0000000000012773.
|
|
Colley, Charlotte S;
Hutchinson, J Ciaran;
Whitten, Sara M;
Siassakos, Dimitrios;
Sebire, Neil J;
Hillman, Sara L;
(2023)
Routine placental histopathology findings from women testing positive for SARS-CoV-2 during pregnancy: Retrospective cohort comparative study.
BJOG: An International Journal of Obstetrics and Gynaecology
10.1111/1471-0528.17476.
|
|
Collins, J;
(2018)
Time to switch to second-line antiretroviral therapy in children with HIV in Europe and Thailand.
Clinical Infectious Diseases
, 66
(4)
pp. 594-603.
10.1093/cid/cix854.
|
|
Collis, R;
Tsang, V;
Pantazis, A;
Tome-Esteban, M;
Elliott, PM;
McGregor, CGA;
(2018)
Individualized surgical strategies for left ventricular outflow tract obstruction in hypertrophic cardiomyopathy.
European Journal of Cardio-Thoracic Surgery
, 53
(6)
pp. 1237-1243.
10.1093/ejcts/ezx458.
|
|
Colville, GA;
Pierce, CM;
Peters, MJ;
(2019)
Self-Reported Fatigue in Children Following Intensive Care Treatment.
Pediatric Critical Care Medicine
, 20
(2)
e98-e101.
10.1097/PCC.0000000000001794.
|
|
Compagnucci, Alexandra;
Chan, Man K;
Saïdi, Yacine;
Cressey, Tim R;
Bamford, Alasdair;
Riault, Yoann;
Coelho, Alexandra;
... Sibanda, N; + view all
(2023)
Nucleoside/nucleotide reverse transcriptase inhibitor sparing regimen with once daily integrase inhibitor plus boosted darunavir is non-inferior to standard of care in virologically-suppressed children and adolescents living with HIV – Week 48 results of the randomised SMILE Penta-17-ANRS 152 clinical trial.
eClinicalMedicine
, 60
, Article 102025. 10.1016/j.eclinm.2023.102025.
|
|
|
Conover, T;
Hlavacek, AM;
Migliavacca, F;
Kung, E;
Dorfman, A;
Figliola, RS;
Hsia, TY;
... McGregor, J; + view all
(2018)
An interactive simulation tool for patient-specific clinical decision support in single-ventricle physiology.
Journal of Thoracic and Cardiovascular Surgery
, 155
(2)
pp. 712-721.
10.1016/j.jtcvs.2017.09.046.
|
|
|
Constable, PA;
Lee, IO;
Marmolejo-Ramos, F;
Skuse, DH;
Thompson, DA;
(2021)
The photopic negative response in autism spectrum disorder.
Clinical and Experimental Optometry
, 104
(8)
pp. 841-847.
10.1080/08164622.2021.1903808.
|
|
Constable, Paul A;
Marmolejo-Ramos, Fernando;
Gauthier, Mercedes;
Lee, Irene O;
Skuse, David H;
Thompson, Dorothy A;
(2022)
Discrete Wavelet Transform Analysis of the Electroretinogram in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder.
Frontiers in Neuroscience
, 16
, Article 890461. 10.3389/fnins.2022.890461.
|
|
Constable, PA;
Ritvo, ER;
Ritvo, AR;
Lee, IO;
McNair, ML;
Stahl, D;
Sowden, J;
... McPartland, JC; + view all
(2020)
Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder.
Journal of Autism and Developmental Disorders
, 50
pp. 2874-2885.
10.1007/s10803-020-04396-5.
|
|
Cook, TM;
Harper, NJN;
Farmer, L;
Garcez, T;
Floss, K;
Marinho, S;
Torevell, H;
... Moonesinghe, SR; + view all
(2018)
Anaesthesia, surgery, and life-threatening allergic reactions: protocol and methods of the 6th National Audit Project (NAP6) of the Royal College of Anaesthetists.
British Journal of Anaesthesia
, 121
(1)
pp. 124-133.
10.1016/j.bja.2018.04.001.
|
|
Cooper, Hannah E;
Halliday, Lorna F;
Bamiou, Doris-Eva;
Mankad, Kshitij;
Clark, Christopher A;
(2022)
Brain structure correlates with auditory function in children diagnosed with auditory neuropathy spectrum disorder.
Brain Behavior
, Article e2773. 10.1002/brb3.2773.
(In press).
|
|
Cooper, HE;
Kaden, E;
Halliday, LF;
Bamiou, D-E;
Mankad, K;
Peters, C;
Clark, CA;
(2019)
White matter microstructural abnormalities in children with severe congenital hypothyroidism.
NeuroImage: Clinical
, 24
, Article 101980. 10.1016/j.nicl.2019.101980.
|
|
|
Cooper-Vince, Christine E;
Nwaka, Chika;
Eddy, Kamryn T;
Misra, Madhusmita;
Hadaway, Natalia A;
Becker, Kendra R;
Lawson, Elizabeth A;
... Micali, Nadia; + view all
(2022)
The factor structure and validity of a diagnostic interview for avoidant/restrictive food intake disorder in a sample of children, adolescents, and young adults.
International Journal of Eating Disorders
, 55
(11)
pp. 1575-1588.
10.1002/eat.23792.
|
|
Cooray, S;
Henderson, R;
Solebo, AL;
Ancliffe, P;
Eleftheriou, D;
Brogan, PA;
(2021)
Retinal vasculopathy in STING-associated vasculitis of infancy (SAVI).
Rheumatology
, 60
(10)
e351-e353.
10.1093/rheumatology/keab297.
|
|
Cooray, S;
Price-Kuehne, F;
Hong, Y;
Omoyinmi, E;
Burleigh, A;
Gilmour, KC;
Ahmad, B;
... Brogan, PA; + view all
(2023)
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Frontiers in Immunology
, 14
, Article 1231749. 10.3389/fimmu.2023.1231749.
|
|
|
Coorens, TH;
Collord, G;
Lu, W;
Mitchell, E;
Ijaz, J;
Roberts, T;
Oliver, TR;
... Behjati, S; + view all
(2021)
Clonal hematopoiesis and therapy-related myeloid neoplasms following neuroblastoma treatment.
Blood
, 137
(21)
pp. 2992-2997.
10.1182/blood.2020010150.
|
|
Coorens, THH;
Oliver, TRW;
Sanghvi, R;
Sovio, U;
Cook, E;
Vento-Tormo, R;
Haniffa, M;
... Behjati, S; + view all
(2021)
Inherent mosaicism and extensive mutation of human placentas.
Nature
, 592
pp. 80-85.
10.1038/s41586-021-03345-1.
|
|
Coorens, THH;
Farndon, SJ;
Mitchell, TJ;
Jain, N;
Lee, S;
Hubank, M;
Sebire, N;
... Behjati, S; + view all
(2020)
Lineage-Independent Tumors in Bilateral Neuroblastoma.
The New England Journal of Medicine
, 383
(19)
pp. 1860-1865.
10.1056/NEJMoa2000962.
|
|
Coorens, THH;
Treger, TD;
Al-Saadi, R;
Moore, L;
Tran, MGB;
Mitchell, TJ;
Tugnait, S;
... Behjati, S; + view all
(2019)
Embryonal precursors of Wilms tumor.
Science
, 366
(6470)
pp. 1247-1251.
10.1126/science.aax1323.
|
|
|
Copelyn, J;
Thompson, LC;
Le Prevost, M;
Castro, H;
Sturgeon, K;
Rowson, K;
Brice, S;
... Adolescents and Adults Living with Perinatal HIV (AALPHI) Steeri; + view all
(2019)
Self-harm in young people with perinatal HIV and HIV negative young people in England: cross sectional analysis.
BMC Public Health
, 19
(1)
, Article 1165. 10.1186/s12889-019-7424-7.
|
|
|
Coppola, A;
Cellini, E;
Stamberger, H;
Saarentaus, E;
Cetica, V;
Lal, D;
Djémié, T;
... EpiCNV Consortium, .; + view all
(2019)
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
10.1111/epi.14683.
(In press).
|
|
|
Coratti, G;
Messina, S;
Lucibello, S;
Pera, MC;
Montes, J;
Pasternak, A;
Stat, FB;
... Mercuri, E; + view all
(2020)
Clinical variability in spinal muscular atrophy type III.
Annals of Neurology
, 88
(6)
pp. 1109-117.
10.1002/ana.25900.
|
|
Coratti, G;
Lucibello, S;
Pera, MC;
Duong, T;
Muni Lofra, R;
Civitello, M;
D'Amico, A;
... ISMAC group; + view all
(2020)
Gain and loss of abilities in type II SMA: A 12-month natural history study.
Neuromuscular Disorders
, 30
(9)
pp. 765-771.
10.1016/j.nmd.2020.07.004.
|
|
Coratti, G;
Pane, M;
Brogna, C;
Ricotti, V;
Messina, S;
D'Amico, A;
Bruno, C;
... on behalf on the International DMD Group and the iMDEX Consortiu; + view all
(2021)
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
PLoS One
, 16
(6)
, Article e0253882. 10.1371/journal.pone.0253882.
|
|
|
Coratti, G;
Pera, MC;
Lucibello, S;
Montes, J;
Pasternak, A;
Mayhew, A;
Glanzman, AM;
... Mercuri, E; + view all
(2020)
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.
Neuromuscular Disorders
, 30
(9)
pp. 756-764.
10.1016/j.nmd.2020.07.005.
|
|
Corbet Burcher, G;
Liang, H;
Lancaster, R;
Cross, JH;
Tisdall, M;
Varadkar, S;
Spoudeas, HA;
... Heyman, I; + view all
(2019)
Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series.
Developmental Medicine and Child Neurology
, 61
(12)
pp. 1377-1385.
10.1111/dmcn.14241.
|
|
Cordina, R;
Ahmad, SN;
Kotchetkova, I;
Eveborn, G;
Pressley, L;
Ayer, J;
Chard, R;
... Celermajer, DS; + view all
(2018)
Management errors in adults with congenital heart disease: prevalence, sources, and consequences.
European Heart Journal
, 39
(12)
pp. 982-989.
10.1093/eurheartj/ehx685.
|
|
|
Cordoba, S;
Onuoha, S;
Thomas, S;
Pignataro, DS;
Hough, R;
Ghorashian, S;
Vora, A;
... Amrolia, PJ; + view all
(2021)
CAR T cells with dual targeting of CD19 and CD22 in pediatric and young adult patients with relapsed or refractory B cell acute lymphoblastic leukemia: a phase 1 trial.
Nature Medicine
, 27
pp. 1797-1805.
10.1038/s41591-021-01497-1.
|
|
|
Cornett, KMD;
Menezes, MP;
Bray, P;
Shy, RR;
Moroni, I;
Pagliano, E;
Pareyson, D;
... CMTPedS Study Group, .; + view all
(2020)
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1713-1715.
10.1002/acn3.51145.
|
|
|
Costantini, Ilaria;
López-López, José A;
Caldwell, Deborah;
Campbell, Amy;
Hadjipanayi, Veronica;
Cantrell, Sarah J;
Thomas, Tallulah;
... Pearson, Rebecca M; + view all
(2023)
Early parenting interventions to prevent internalising problems in children and adolescents: a global systematic review and network meta-analysis.
BMJ Mental Health
, 26
(1)
, Article e300811. 10.1136/bmjment-2023-300811.
|
|
|
Coughlin, CR;
Tseng, LA;
Abdenur, JE;
Ashmore, C;
Boemer, F;
Bok, LA;
Boyer, M;
... van Karnebeek, CDM; + view all
(2021)
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 178-192.
10.1002/jimd.12332.
|
|
Coughtrey, A;
Bennett, S;
Sibelli, A;
Chorpita, B;
Dalrymple, E;
Fonagy, P;
Ford, T;
... Shafran, R; + view all
(2021)
'A greatest hits compilation of mental health support': A qualitative study of health professionals' perspectives of modular CBT in paediatric epilepsy services.
Epilepsy and Behavior
, 123
, Article 108249. 10.1016/j.yebeh.2021.108249.
|
|
Counsell, JR;
De Brabandere, G;
Karda, R;
Moore, M;
Greco, A;
Bray, A;
Diaz, JA;
... Waddington, SN; + view all
(2021)
Re-structuring lentiviral vectors to express genomic RNA via cap-dependent translation.
Molecular Therapy - Methods and Clinical Development
, 20
pp. 357-365.
10.1016/j.omtm.2020.12.005.
|
|
|
Counsell, JR;
Karda, R;
Diaz, JA;
Carey, L;
Wiktorowicz, T;
Buckley, SMK;
Ameri, S;
... Howe, SJ; + view all
(2018)
Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice.
Molecular Therapy - Nucleic Acids
, 12
pp. 626-634.
10.1016/j.omtn.2018.07.006.
|
|
|
COVIDSurg Collaborative Co-authors;
(2021)
Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: the COVIDSurg mortality score.
British Journal of Surgery
, Article znab183. 10.1093/bjs/znab183.
(In press).
|
|
|
Craven, Claudia L;
Gissen, Paul;
Bower, Rebecca;
Lee, Laura;
Aquilina, Kristian;
Thompson, Dominic NP;
(2022)
A survival analysis of ventricular access devices for delivery of cerliponase alfa.
Journal of Neurosurgery: Pediatrics
, 29
(1)
pp. 115-121.
10.3171/2021.7.PEDS21129.
|
|
Creasey, T;
Enshaei, A;
Nebral, K;
Schwab, C;
Watts, K;
Cuthbert, G;
Vora, A;
... Moorman, AV; + view all
(2021)
Single nucleotide polymorphism (SNP) array-based signature of low hypodiploidy in acute lymphoblastic leukemia.
Genes Chromosomes and Cancer
10.1002/gcc.22956.
(In press).
|
|
|
Crehan, C;
Kesler, E;
Nambiar, B;
Dube, Q;
Lufesi, N;
Giaccone, M;
Normand, C;
... Heys, M; + view all
(2019)
The NeoTree application: developing an integrated mHealth solution to improve quality of newborn care and survival in a district hospital in Malawi.
BMJ Global Health
, 4
, Article e000860. 10.1136/bmjgh-2018-000860.
|
|
|
Creta, A;
Arigliani, M;
di Gioia, G;
Lapenna, R;
Quintarelli, F;
Fittipaldi, M;
Antinolfi, V;
... Providência, R; + view all
(2019)
Impact of Ethnicity on the Prevalence of Early Repolarization Pattern in Children: Comparison Between Caucasian and African Populations.
Pediatric Cardiology
, 40
pp. 1553-1558.
10.1007/s00246-019-02185-1.
|
|
Crichton, S;
Belfrage, E;
Collins, IJ;
Doerholt, K;
Judd, A;
Le Coeur, S;
Spoulou, V;
... Group authorship: The European Pregnancy and Paediatric HIV Coho, .; + view all
(2019)
Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand.
AIDS
10.1097/QAD.0000000000002294.
(In press).
|
|
|
Crosier, S;
Hicks, D;
Schwalbe, EC;
Williamson, D;
Nicholson, SL;
Smith, A;
Lindsey, JC;
... Clifford, SC; + view all
(2021)
Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics.
Neuropathology and Applied Neurobiology
10.1111/nan.12716.
(In press).
|
|
Cross, J Helen;
Reilly, Colin;
Gutierrez Delicado, Eva;
Smith, Mary Lou;
Malmgren, Kristina;
(2022)
Epilepsy surgery for children and adolescents: evidence-based but underused.
The Lancet Child & Adolescent Health
, 6
(7)
pp. 484-494.
10.1016/S2352-4642(22)00098-0.
|
   |
|
Cross, JH;
Kwon, C-S;
Asadi-Pooya, AA;
Balagura, G;
Gómez-Iglesias, P;
Guekht, A;
Hall, J;
... ILAE Task Forces on COVID-19, Telemedicine, .; + view all
(2021)
Epilepsy care during the COVID-19 pandemic.
Epilepsia
, 62
(10)
pp. 2322-2332.
10.1111/epi.17045.
|
|
Cross, JH;
Caraballo, RH;
Nabbout, R;
Vigevano, F;
Guerrini, R;
Lagae, L;
(2019)
Dravet syndrome: Treatment options and management of prolonged seizures.
Epilepsia
, 60
(S3)
S39-S48.
10.1111/epi.16334.
|
|
Crossland, MD;
Reuben, M;
Bedford, SL;
(2022)
Novel use of a Franklin split lens for cycling with hemianopia.
Ophthalmic and Physiological Optics
, 42
(1)
pp. 218-223.
10.1111/opo.12906.
|
|
Crotti, L;
Spazzolini, C;
Tester, DJ;
Ghidoni, A;
Baruteau, A-E;
Beckmann, B-M;
Behr, ER;
... Schwartz, PJ; + view all
(2019)
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
European Heart Journal
, 40
(35)
pp. 2964-2975.
10.1093/eurheartj/ehz311.
|
|
Crow, Yanick J;
Marshall, Heather;
Rice, Gillian;
Seabra, Luis;
Jenkinson, Emma M;
Baranano, Kristin;
Battini, Roberta;
... Badrock, Andrew P; + view all
(2021)
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
American Journal of Medical Genetics Part A
, 185
(1)
pp. 15-25.
10.1002/ajmg.a.61907.
|
|
|
Crowley, C;
Butler, C;
Camilli, C;
Hynds, R;
Kolluri, KK;
Janes, SM;
De Coppi, P;
(2019)
Non-invasive longitudinal bioluminescence imaging of human mesoangioblasts in bioengineered esophagi.
Tissue Engineering Part C: Methods
, 25
(2)
pp. 103-113.
10.1089/ten.TEC.2018.0351.
|
|
|
Cudini, J;
Roy, S;
Houldcroft, CJ;
Bryant, JM;
Depledge, DP;
Tutill, H;
Veys, P;
... Breuer, J; + view all
(2019)
Human cytomegalovirus haplotype reconstruction reveals high diversity due to superinfection and evidence of within-host recombination.
Proceedings of the National Academy of Sciences of the United States of America
, 116
(12)
pp. 5693-5698.
10.1073/pnas.1818130116.
|
|
Cuevas, E;
Holder, DL;
Alshehri, AH;
Treguier, J;
Lakowski, J;
Sowden, JC;
(2021)
NRL^{-/-} gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
Stem Cells
10.1002/stem.3325.
(In press).
|
|
|
Cumberland, PM;
Bountziouka, V;
Rahi, JS;
(2018)
Impact of varying the definition of myopia on estimates of prevalence and associations with risk factors: time for an approach that serves research, practice and policy.
British Journal of Ophthalmology
, 102
(10)
pp. 1407-1412.
10.1136/bjophthalmol-2017-311557.
|
|
|
Cundy, Olivia;
Lange, Clemens AK;
Bunce, Catey;
Bainbridge, James W;
Solebo, Ameenat Lola;
(2023)
Face‐down positioning or posturing after macular hole surgery.
Cochrane Database of Systematic Reviews
, 2023
(11)
, Article CD008228. 10.1002/14651858.CD008228.pub3.
|
|
Cunningham, Sharon C;
van Dijk, Eva B;
Zhu, Erhua;
Sugden, Maya;
Mandwie, Mawj;
Siew, Susan;
Devanapalli, Beena;
... Alexander, Ian E; + view all
(2023)
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
Human Gene Therapy
, 34
(17-18)
pp. 917-926.
10.1089/hum.2023.011.
|
|
Custers, L;
Khabirova, E;
Coorens, THH;
Oliver, TRW;
Calandrini, C;
Young, MD;
Vieira Braga, FA;
... Drost, J; + view all
(2021)
Somatic mutations and single-cell transcriptomes reveal the root of malignant rhabdoid tumours.
Nature Communications
, 12
, Article 1407. 10.1038/s41467-021-21675-6.
|
|
D
|
D'Amore, S;
Page, K;
Donald, A;
Taiyari, K;
Tom, B;
Deegan, P;
Tan, CY;
... MRC GAUCHERITE Consortium, .; + view all
(2021)
In-depth phenotyping for clinical stratification of Gaucher disease.
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 431. 10.1186/s13023-021-02034-6.
|
|
|
D'Arco, F;
Alves, CA;
Raybaud, C;
Chong, WKK;
Ishak, GE;
Ramji, S;
Grima, M;
... Ganesan, V; + view all
(2018)
Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
American Journal of Neuroradiology
, 39
(11)
pp. 2126-2131.
10.3174/ajnr.A5823.
|
|
D'Arco, F;
O'Hare, P;
Dashti, F;
Lassaletta, A;
Loka, T;
Tabori, U;
Talenti, G;
... Laughlin, S; + view all
(2018)
Volumetric assessment of tumor size changes in pediatric low-grade gliomas: feasibility and comparison with linear measurements.
Neuroradiology
, 60
(4)
pp. 427-436.
10.1007/s00234-018-1979-3.
|
|
|
D'Hooghe, Ellen;
Furtwängler, Rhoikos;
Chowdhury, Tanzina;
Vokuhl, Christian;
Al-Saadi, Reem;
Pritchard-Jones, Kathy;
Graf, Norbert;
(2023)
Stage I epithelial or stromal type Wilms tumors are low risk tumors: An analysis of patients treated on the SIOP-WT-2001 protocol in the UK-CCLG and GPOH studies (2001-2020).
Cancer
, 129
(12)
pp. 1930-1938.
10.1002/cncr.34734.
|
|
|
D'Sa, Karishma;
Guelfi, Sebastian;
Vandrovcova, Jana;
Reynolds, Regina H;
Zhang, David;
Hardy, John;
Botía, Juan A;
... Ryten, Mina; + view all
(2023)
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.
Scientific Reports
, 13
(1)
, Article 13874. 10.1038/s41598-023-40324-0.
|
|
Daich Varela, M;
Esener, B;
Hashem, SA;
Cabral de Guimaraes, TA;
Georgiou, M;
Michaelides, M;
(2021)
Structural evaluation in inherited retinal diseases.
British Journal of Ophthalmology
10.1136/bjophthalmol-2021-319228.
(In press).
|
|
|
Damji, S;
Callaghan, CJ;
Loukopoulos, I;
Kessaris, N;
Stojanovic, J;
Marks, SD;
Mamode, N;
(2018)
Utilisation of small paediatric donor kidneys for transplantation.
Pediatric Nephrology
, 34
(10)
pp. 1717-1726.
10.1007/s00467-018-4073-5.
|
|
|
Dangardt, F;
Charakida, M;
Chiesa, S;
Bhowruth, D;
Rapala, A;
Thurn, D;
Schaefer, F;
... Shroff, R; + view all
(2018)
Intimal and medial arterial changes defined by ultra-high-frequency ultrasound: Response to changing risk factors in children with chronic kidney disease.
PLoS One
, 13
(6)
, Article e0198547. 10.1371/journal.pone.0198547.
|
|
|
Darras, BT;
Masson, R;
Mazurkiewicz-Bełdzińska, M;
Rose, K;
Xiong, H;
Zanoteli, E;
Baranello, G;
... FIREFISH Working Group; + view all
(2021)
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
New England Journal of Medicine
, 385
pp. 427-435.
10.1056/NEJMoa2102047.
|
|
Darras, BT;
Crawford, TO;
Finkel, RS;
Mercuri, E;
De Vivo, DC;
Oskoui, M;
Tizzano, EF;
... Sumner, CJ; + view all
(2019)
Neurofilament as a potential biomarker for spinal muscular atrophy.
Annals of Clinical and Translational Neurology
, 6
(5)
pp. 932-944.
10.1002/acn3.779.
|
|
|
Dasgupta, Debayan;
Finn, Roisin;
Chari, Aswin;
Giampiccolo, Davide;
de Tisi, Jane;
O’Keeffe, Aidan G;
Miserocchi, Anna;
... Duncan, John S; + view all
(2023)
Hippocampal resection in Temporal Lobe epilepsy: do we need to resect the tail?
Epilepsy Research
, 190
, Article 107086. 10.1016/j.eplepsyres.2023.107086.
|
|
Dastamani, A;
Güemes, M;
Pitfield, C;
Morgan, K;
Rajab, M;
Rottenburger, C;
Bomanji, J;
... Shah, P; + view all
(2019)
The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia.
Hormone Research in Paediatrics
, 91
(1)
pp. 56-61.
10.1159/000491101.
|
|
Dastamani, A;
Malhorta, N;
Güemes, M;
Morgan, K;
Rees, CM;
Dattani, M;
Shah, P;
(2019)
Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.
Hormone Research in Paediatrics
, 91
(3)
pp. 216-220.
10.1159/000491647.
|
|
Datta, AN;
Bahi-Buisson, N;
Bienvenu, T;
Buerki, SE;
Gardiner, F;
Cross, JH;
Heron, B;
... Lemke, JR; + view all
(2021)
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
10.1111/epi.16761.
(In press).
|
|
|
Dattani, MT;
(2019)
Letrozole: a new treatment for delayed puberty in boys?
[Editorial comment].
The Lancet Child & Adolescent Health
, 3
(2)
pp. 60-62.
10.1016/S2352-4642(18)30405-X.
|
|
|
Davendralingam, N;
Sebire, NJ;
Arthurs, OJ;
Shelmerdine, SC;
(2020)
Artificial intelligence in paediatric radiology: Future opportunities.
The British Journal of Radiology
, 94
(1117)
, Article 20200975. 10.1259/bjr.20200975.
|
|
Davidson, J;
Eaton, S;
Pakarinen, M;
Curry, J;
(2024)
Letter to the Editor in response to: Sexual Function and Quality of Life relates to functional outcome in adult male patients with Hirschsprung disease.
Journal of Pediatric Surgery
, 58
(9)
pp. 1857-1858.
10.1016/j.jpedsurg.2023.05.023.
|
|
Davidson, J;
Kyrklund, K;
Eaton, S;
Pakarinen, M;
Thompson, D;
Blackburn, S;
Cross, K;
... Curry, J; + view all
(2021)
Outcomes in Hirschsprung’s disease with coexisting learning disability.
European Journal of Pediatrics
10.1007/s00431-021-04129-5.
(In press).
|
|
|
Davidson, J;
Kyrklund, K;
Eaton, S;
Pakarinen, M;
Thompson, D;
Cross, K;
Blackburn, S;
... Curry, J; + view all
(2021)
Long-term surgical and patient-reported outcomes of Hirschsprung Disease.
Journal of Pediatric Surgery
, 56
(9)
pp. 1502-1511.
10.1016/j.jpedsurg.2021.01.043.
|
|
Davidson, JR;
Kyrklund, K;
Eaton, S;
Pakarinen, MP;
Thompson, DS;
Cross, K;
Blackburn, SC;
... Curry, J; + view all
(2021)
Sexual function, quality of life, and fertility in women who had surgery for neonatal Hirschsprung's disease.
British Journal of Surgery
, 108
(2)
e79-e80.
10.1093/bjs/znaa108.
|
|
Davidson, JR;
Uus, A;
Matthew, J;
Egloff, AM;
Deprez, M;
Yardley, I;
De Coppi, P;
... Rutherford, MA; + view all
(2021)
Fetal body MRI and its application to fetal and neonatal treatment: an illustrative review.
The Lancet Child & Adolescent Health
, 5
(6)
pp. 447-458.
10.1016/S2352-4642(20)30313-8.
|
|
Davies, G;
(2020)
Does newborn screening improve early lung function in cystic fibrosis?
Paediatric Respiratory Reviews
10.1016/j.prrv.2020.08.005.
(In press).
|
|
Davies, G;
Aurora, P;
Patel, A;
Pusdekar, Y;
(2019)
Editorial.
Indian Pediatrics
, 56
(2)
pp. 105-108.
10.1007/s13312-019-1480-z.
|
|
Davies, G;
Stanojevic, S;
Raywood, E;
Duncan, JA;
Stocks, J;
Lum, S;
Bush, A;
... London Cystic Fibrosis Collaboration, .; + view all
(2020)
An observational study of the lung clearance index throughout childhood in cystic fibrosis: Early years matter.
European Respiratory Journal
, 56
(4)
, Article 2000006. 10.1183/13993003.00006-2020.
|
|
|
Davies, G;
Thia, LP;
Stocks, J;
Bush, A;
Hoo, A-F;
Wade, A;
Nguyen, TTD;
... London Cystic Fibrosis Collaboration (LCFC); + view all
(2020)
Minimal change in structural, functional and inflammatory markers of lung disease in newborn screened infants with cystic fibrosis at one year.
Journal of Cystic Fibrosis
, 19
(6)
pp. 896-901.
10.1016/j.jcf.2020.01.006.
|
|
Davies, JI;
Macnab, AJ;
Byass, P;
Norris, SA;
Nyirenda, M;
Singhal, A;
Sobngwi, E;
(2018)
Developmental origins of health and disease in Africa-influencing early life.
[Editorial comment].
The Lancet Global Health
, 6
(3)
E244-E245.
10.1016/S2214-109X(18)30036-6.
|
|
|
Davis, S;
Higgs, P;
Jones, L;
Greenslade, L;
Wilson, J;
Low, JT;
Principal Research Fellow;
(2021)
"I am in other people's hands as regards my health" A sociological critique of health care encounters of people with cirrhosis. A secondary analysis.
Chronic Illness
10.1177/17423953211058422.
(In press).
|
|
|
Dawes, TJW;
Woodham, V;
Sharkey, E;
McEwan, A;
Derrick, G;
Muthurangu, V;
Moledina, S;
(2024)
Predicting Peri-Operative Cardiorespiratory Adverse Events in Children with Idiopathic Pulmonary Arterial Hypertension Undergoing Cardiac Catheterization Using Echocardiography: A Cohort Study.
Pediatric Cardiology
10.1007/s00246-024-03447-3.
(In press).
|
|
Dawes, W;
Marcus, HJ;
Tisdall, M;
Aquilina, K;
(2019)
Robot-assisted stereotactic brainstem biopsy in children: prospective cohort study.
Journal of Robotic Surgery
10.1007/s11701-018-0899-x.
(In press).
|
|
|
Daza-Cajigal, V;
Albuquerque, AS;
Pearson, J;
Hinley, J;
Mason, AS;
Stahlschmidt, J;
Thrasher, AJ;
... Burns, SO; + view all
(2019)
Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer.
Frontiers in Immunology
, 10
, Article 2065. 10.3389/fimmu.2019.02065.
|
|
|
Daza-Cajigal, V;
Albuquerque, AS;
Young, DF;
Ciancanelli, MJ;
Moulding, D;
Angulo, I;
Jeanne-Julien, V;
... Burns, SO; + view all
(2022)
Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria.
Frontiers in Immunology
, 13
, Article 888427. 10.3389/fimmu.2022.888427.
|
|
De Benedetti, F;
Gattorno, M;
Anton, J;
Ben-Chetrit, E;
Frenkel, J;
Hoffman, HM;
Koné-Paut, I;
... Junge, G; + view all
(2018)
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
The New England Journal of Medicine
, 378
(20)
pp. 1908-1919.
10.1056/NEJMoa1706314.
|
|
De Bie, F;
Suply, E;
Verbelen, T;
Vanstraelen, S;
Debeer, A;
Cross, K;
Curry, J;
... Decaluwé, H; + view all
(2020)
Early surgical complications after congenital diaphragmatic hernia repair by thoracotomy vs. laparotomy: A bicentric comparison.
Journal of Pediatric Surgery
, 55
(10)
pp. 2105-2110.
10.1016/j.jpedsurg.2019.12.020.
|
|
de Blank, Peter MK;
Gross, Andrea M;
Akshintala, Srivandana;
Blakeley, Jaishri O;
Bollag, Gideon;
Cannon, Ashley;
Dombi, Eva;
... Fisher, Michael J; + view all
(2022)
MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus.
Neuro-Oncology
, 24
(11)
pp. 1845-1856.
10.1093/neuonc/noac165.
|
|
De Blasi, B;
Barnes, A;
Boscolo Galazzo, I;
Hua, C-H;
Shulkin, B;
Koepp, M;
Tisdall, M;
(2018)
Age-Specific 18F-FDG Image Processing Pipelines and Analysis Are Essential for Individual Mapping of Seizure Foci in Paediatric Patients with Intractable Epilepsy.
Journal of Nuclear Medicine
, 59
(10)
pp. 1590-1596.
10.2967/jnumed.117.203950.
|
|
De Graeff, N;
Groot, N;
Brogan, P;
Ozen, S;
Avcin, T;
Bader-Meunier, B;
Dolezalova, P;
... Beresford, MW; + view all
(2019)
European consensus-based recommendations for the diagnosis and treatment of rare paediatric vasculitides – the SHARE initiative.
Rheumatology
, 58
(4)
pp. 656-671.
10.1093/rheumatology/key322.
|
|
de Graeff, N;
Groot, N;
Ozen, S;
Eleftheriou, D;
Avcin, T;
Bader-Meunier, B;
Dolezalova, P;
... Beresford, MW; + view all
(2019)
European consensus-based recommendations for the diagnosis and treatment of Kawasaki disease - the SHARE initiative.
Rheumatology
, 58
(4)
pp. 672-682.
10.1093/rheumatology/key344.
|
|
De Iorio, M;
Gallot, N;
Valcarcel, B;
Wedderburn, L;
(2018)
A Bayesian semiparametric Markov regression model for juvenile dermatomyositis.
Statistics in Medicine
, 37
(10)
pp. 1711-1731.
10.1002/sim.7613.
|
|
de la Rosa Carrillo, D;
Vindenes, H;
Kinsler, VA;
Rønnestad, A;
Ringstad, G;
Müller, L-SO;
Tafjord, S;
... Clausen, OPF; + view all
(2018)
Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation‐negative nodules.
Pediatric Dermatology
, 35
(5)
e281-e285.
10.1111/pde.13595.
|
|
De Luca, D;
Harrison, DA;
Peters, MJ;
(2018)
‘Lumping or splitting’ in paediatric acute respiratory distress syndrome (PARDS).
[Editorial comment].
Intensive Care Medicine
, 44
(9)
pp. 1548-1550.
10.1007/s00134-018-5323-5.
|
|
De Rechter, S;
Bockenhauer, D;
Guay-Woodford, LM;
Liu, I;
Mallett, AJ;
Soliman, NA;
Sylvestre, LC;
... Morawiec-Knysak, A; + view all
(2019)
ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
Kidney International Reports
, 4
(9)
pp. 1271-1284.
10.1016/j.ekir.2019.05.015.
|
|
|
De Silva, SR;
Arno, G;
Robson, AG;
Fakin, A;
Pontikos, N;
Mohamed, MD;
Bird, A;
... Mahroo, OA; + view all
(2020)
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
Progress in Retinal and Eye Research
, Article 100898. 10.1016/j.preteyeres.2020.100898.
(In press).
|
|
|
de Vos-Kerkhof, E;
Geurts, DHF;
Steyerberg, EW;
Lakhanpaul, M;
Moll, HA;
Oostenbrink, R;
(2018)
Characteristics of revisits of children at risk for serious infections in pediatric emergency care.
European Journal of Pediatrics
, 177
(4)
pp. 617-624.
10.1007/s00431-018-3095-0.
|
|
de Vries, JJC;
Brown, JR;
Fischer, N;
Sidorov, IA;
Morfopoulou, S;
Huang, J;
Munnink, BBO;
... Claas, ECJ; + view all
(2021)
Benchmark of thirteen bioinformatic pipelines for metagenomic virus diagnostics using datasets from clinical samples.
Journal of Clinical Virology
, 141
, Article 104908. 10.1016/j.jcv.2021.104908.
|
|
|
De Vries, MC;
Brown, DA;
Allen, ME;
Bindoff, L;
Gorman, GS;
Karaa, A;
Keshavan, N;
... Mancuso, M; + view all
(2020)
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
Journal of Inherited Metabolic Disease
10.1002/jimd.12196.
(In press).
|
|
|
Deakin, Claire T;
Bowes, John;
Rider, Lisa G;
Miller, Frederick W;
Pachman, Lauren M;
Sanner, Helga;
Rouster-Stevens, Kelly;
... Wedderburn, Lucy R; + view all
(2022)
Association with HLA-DRβ1 position 37 distinguishes juvenile Dermatomyositis from adult-onset myositis.
Human Molecular Genetics
10.1093/hmg/ddac019.
(In press).
|
|
|
Deakin, CT;
Cornish, GH;
Ng, KW;
Faulkner, N;
Bolland, W;
Hope, J;
Rosa, A;
... Kassiotis, G; + view all
(2021)
Favourable antibody responses to human coronaviruses in children and adolescents with autoimmune rheumatic diseases.
Med
, 2
(9)
1093-1106.e6.
10.1016/j.medj.2021.08.001.
|
|
Deakin, CT;
Campanilho-Marques, R;
Simou, S;
Moraitis, E;
Wedderburn, LR;
Pullenayegum, E;
Pilkington, CA;
(2018)
Efficacy and Safety of Cyclophosphamide Treatment in Severe Juvenile Dermatomyositis Shown by Marginal Structural Modeling.
Arthritis & Rheumatology
, 70
(5)
pp. 785-793.
10.1002/art.40418.
|
|
|
Deakin, CT;
Papadopoulou, C;
McCann, LJ;
Martin, N;
Al-Obaidi, M;
Compeyrot-Lacassagne, S;
Pilkington, CA;
... Juvenile Dermatomyositis Research Group, .; + view all
(2020)
Identification and prediction of novel classes of long-term disease trajectories for patients with juvenile dermatomyositis using growth mixture models.
Rheumatology
10.1093/rheumatology/keaa497.
(In press).
|
|
|
Deans, ZC;
Allen, S;
Jenkins, L;
Khawaja, F;
Gutowska-Ding, W;
Patton, SJ;
Chitty, LS;
(2019)
Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
Prenatal Diagnosis
10.1002/pd.5438.
(In press).
|
|
|
Defelippe, Victoria M;
J M W van Thiel, Ghislaine;
Otte, Willem M;
Schutgens, Roger EG;
Stunnenberg, Bas;
Cross, Helen J;
O'Callaghan, Finbar;
... Braun, Kees PJ; + view all
(2023)
Toward responsible clinical n-of-1 strategies for rare diseases.
Drug Discovery Today
, 28
(10)
, Article 103688. 10.1016/j.drudis.2023.103688.
|
|
Deguise, M-O;
Baranello, G;
Mastella, C;
Beauvais, A;
Michaud, J;
Leone, A;
De Amicis, R;
... Kothary, R; + view all
(2019)
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
Annals of Clinical and Translational Neurology
, 6
(8)
pp. 1519-1532.
10.1002/acn3.50855.
|
|
|
Deja, E;
Peters, MJ;
Khan, I;
Mouncey, PR;
Agbeko, R;
Fenn, B;
Watkins, J;
... Woolfall, K; + view all
(2021)
Establishing and augmenting views on the acceptability of a paediatric critical care randomised controlled trial (the FEVER trial): a mixed methods study.
BMJ Open
, 11
(3)
, Article e041952. 10.1136/bmjopen-2020-041952.
|
|
|
Del Valle, Ignacio;
Young, Matthew D;
Kildisiute, Gerda;
Ogunbiyi, Olumide K;
Buonocore, Federica;
Simcock, Ian C;
Khabirova, Eleonora;
... Achermann, John C; + view all
(2023)
An integrated single-cell analysis of human adrenal cortex development.
JCI Insight
, 8
(14)
, Article e168177. 10.1172/jci.insight.168177.
|
|
Delalande, JM;
Nagy, N;
McCann, CJ;
Natarajan, D;
Cooper, JE;
Carreno, G;
Dora, D;
... Burns, AJ; + view all
(2021)
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Frontiers in Molecular Neuroscience
, 14
, Article 757646. 10.3389/fnmol.2021.757646.
|
|
|
Delgado, AHS;
Owji, N;
Ashley, P;
Young, AM;
(2021)
Varying 10-methacryloyloxydecyl dihydrogen phosphate (10-MDP) level improves polymerisation kinetics and flexural strength in self-adhesive, remineralising composites.
Dental Materials
, 37
(9)
pp. 1366-1376.
10.1016/j.dental.2021.06.006.
|
|
Deliège, L;
Misier, KR;
Bozkurt, S;
Breakey, W;
James, G;
Ong, J;
Dunaway, D;
... Borghi, A; + view all
(2021)
Validation of an in-silico modelling platform for outcome prediction in spring assisted posterior vault expansion.
Clinical Biomechanics
, 88
, Article 105424. 10.1016/j.clinbiomech.2021.105424.
|
|
|
Depledge, DP;
Cudini, J;
Kundu, S;
Atkinson, C;
Brown, JR;
Haque, T;
Houldcroft, CJ;
... Breuer, J; + view all
(2018)
High Viral Diversity and Mixed Infections in Cerebral Spinal Fluid From Cases of Varicella Zoster Virus Encephalitis.
The Journal of Infectious Diseases
10.1093/infdis/jiy358.
|
|
|
Dewan, R;
Chia, R;
Ding, J;
Hickman, RA;
Stein, TD;
Abramzon, Y;
Ahmed, S;
... Traynor, BJ; + view all
(2021)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron
, 109
(3)
448-460.e4.
10.1016/j.neuron.2020.11.005.
|
|
Dexter, D;
Simons, D;
Kiyaga, C;
Kapata, N;
Ntoumi, F;
Kock, R;
Zumla, A;
(2020)
Mitigating the effect of the COVID-19 pandemic on sickle cell disease services in African countries.
The Lancet Haematology
, 7
(6)
e430-e432.
10.1016/S2352-3026(20)30122-8.
|
|
|
Di, W-L;
Lwin, SM;
Petrova, A;
Bernadis, C;
Syed, F;
Farzaneh, F;
Moulding, DM;
... Qasim, W; + view all
(2019)
Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.
Human Gene Therapy
, 30
(9)
pp. 1067-1078.
10.1089/hum.2019.049.
|
|
Di Cicco, E;
Moran, C;
Visser, WE;
Nappi, A;
Schoenmakers, E;
Todd, P;
Lyons, G;
... Dentice, M; + view all
(2021)
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
Thyroid
, 31
(7)
pp. 1114-1126.
10.1089/thy.2020.0391.
|
|
Di Laura, A;
Henckel, J;
Wescott, R;
Hothi, H;
Hart, AJ;
(2020)
The effect of metal artefact on the design of custom 3D printed acetabular implants.
3D Printing in Medicine
, 6
(1)
, Article 23. 10.1186/s41205-020-00074-5.
|
|
|
Di Micco, L;
Biffi, B;
Schievano, S;
Boso, DP;
Besola, L;
Fiocco, A;
Gerosa, G;
... Peruzzo, P; + view all
(2022)
Beating heart implantation of transventricular artificial cordae: How can access site selection and leaflet insertion improve mitral regurgitation correction?
Medical Engineering and Physics
, 101
, Article 103773. 10.1016/j.medengphy.2022.103773.
|
|
Dimitrova, D;
Nademi, Z;
Maccari, ME;
Ehl, S;
Uzel, G;
Tomoda, T;
Okano, T;
... Kanakry, JA; + view all
(2021)
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Journal of Allergy and Clinical Immunology
10.1016/j.jaci.2021.04.036.
(In press).
|
|
|
Dion, C;
Roche, S;
Laberthonnière, C;
Broucqsault, N;
Mariot, V;
Xue, S;
Gurzau, AD;
... Magdinier, F; + view all
(2019)
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Research
, 47
(6)
pp. 2822-2839.
10.1093/nar/gkz005.
|
|
|
Disma, N;
Veyckemans, F;
Virag, K;
Hansen, TG;
Becke, K;
Harlet, P;
Vutskits, L;
... Sunderland, R; + view all
(2021)
Morbidity and mortality after anaesthesia in early life: results of the European prospective multicentre observational study, neonate and children audit of anaesthesia practice in Europe (NECTARINE).
British Journal of Anaesthesia
10.1016/j.bja.2021.02.016.
(In press).
|
|
|
Dobra, R;
Davies, G;
Pike, K;
Strassle, C;
Allen, L;
Brendell, R;
Brownlee, K;
... London Network of Clinical Trials Accelerator Platform sites and, .; + view all
(2021)
Optimising equity of access: how should we allocate slots to the most competitive trials in Cystic Fibrosis (CF)?
Journal of Cystic Fibrosis
, 20
(6)
pp. 978-985.
10.1016/j.jcf.2021.03.027.
|
|
Dobson, G;
Klein, N;
Veys, P;
Qasim, W;
Silva, J;
Cheng, IL;
Shingadia, D;
... Bamford, A; + view all
(2019)
Persistence of HIV reservoir following successful haematopoietic stem cell transplant for juvenile myelomonocytic leukaemia in a child with perinatally acquired HIV.
Journal of Virus Eradication
, 2019
(5.3)
e6-e9.
|
|
|
Doherty, Carolynne M;
Howard, Paige;
O'Donnell, Luke F;
Zuccarino, Riccardo;
Wastling, Stephen;
Milev, Evelin;
Banks, Tina;
... Reilly, Mary M; + view all
(2024)
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
Annals of Neurology
10.1002/ana.26934.
(In press).
|
|
Doherty, CM;
Morrow, JM;
Zuccarino, R;
Howard, P;
Wastling, S;
Pipis, M;
Zafeiropoulos, N;
... Reilly, MM; + view all
(2024)
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Annals of Clinical and Translational Neurology
10.1002/acn3.51979.
(In press).
|
|
DOLPHIN-UK Collaborators, .;
(2022)
A standardised protocol for neuro-endoscopic lavage for post-haemorrhagic ventricular dilatation: A Delphi consensus approach.
Child's Nervous System
, 38
pp. 2181-2187.
10.1007/s00381-022-05632-2.
|
|
Domico, M;
Ridout, D;
MacLaren, G;
Barbaro, R;
Annich, G;
Schlapbach, LJ;
Brown, KL;
(2018)
Extracorporeal Membrane Oxygenation for Pertussis: Predictors of Outcome Including Pulmonary Hypertension and Leukodepletion.
Pediatric Critical Care Medicine
, 19
(3)
pp. 254-261.
10.1097/PCC.0000000000001454.
|
|
|
Domingos, J;
Ricotti, V;
Martinez, AE;
Muntoni, F;
(2018)
Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy.
Neuromuscular Disorders
, 28
(2)
pp. 176-177.
10.1016/j.nmd.2017.11.015.
|
|
Dorfman, AL;
Geva, T;
Samyn, MM;
Greil, G;
Krishnamurthy, R;
Messroghli, D;
Festa, P;
... Lai, WW; + view all
(2022)
SCMR expert consensus statement for cardiovascular magnetic resonance of acquired and non-structural pediatric heart disease.
Journal of Cardiovascular Magnetic Resonance
, 24
(1)
, Article 44. 10.1186/s12968-022-00873-1.
|
|
|
Dorobantu, DM;
Ridout, D;
Brown, KL;
Rodrigues, W;
Sharabiani, MTA;
Pagel, C;
Anderson, D;
... Stoica, SC; + view all
(2021)
Factors associated with unplanned reinterventions and their relation to early mortality after pediatric cardiac surgery.
The Journal of Thoracic and Cardiovascular Surgery
, 161
(3)
1155-1166.e9.
10.1016/j.jtcvs.2020.10.145.
|
|
dos-Santos-Silva, I;
De Stavola, BL;
Renna, NL;
Nogueira, MC;
Aquino, EML;
Bustamante-Teixeira, MT;
Azevedo e Silva, G;
(2019)
Ethnoracial and social trends in breast cancer staging at diagnosis in Brazil, 2001–14: a case only analysis.
The Lancet Global Health
, 7
(6)
e784-e797.
10.1016/S2214-109X(19)30151-2.
|
|
Downie, Mallory L;
Gupta, Sanjana;
Chan, Melanie MY;
Sadeghi-Alavijeh, Omid;
Cao, Jingjing;
Parekh, Rulan S;
Diz, Carmen Bugarin;
... Gale, Daniel P; + view all
(2023)
Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome.
Pediatric Nephrology
, 38
(6)
pp. 1793-1800.
10.1007/s00467-022-05789-7.
|
|
Downie, ML;
Gupta, S;
Voinescu, C;
Levine, AP;
Sadeghi-Alavijeh, O;
Dufek-Kamperis, S;
Cao, J;
... Gale, DP; + view all
(2023)
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
Kidney International Reports
10.1016/j.ekir.2023.05.018.
(In press).
|
|
Downie, ML;
Bockenhauer, D;
(2019)
Swimming with the fishes: delineating tubular transport pathways for magnesium.
Pflügers Archiv - European Journal of Physiology
, 471
(6)
pp. 817-818.
10.1007/s00424-019-02286-z.
|
|
Downie, ML;
Gupta, S;
Tekman, MC;
Cheshire, C;
Arora, S;
Licht, C;
Robinson, LA;
... Kleta, R; + view all
(2021)
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy.
Kidney International Reports
10.1016/j.ekir.2021.02.025.
(In press).
|
|
|
Doykov, Ivan;
Baldwin, Tomas;
Spiewak, Justyna;
Gilmour, Kimberly C;
Gibbons, Joseph M;
Pade, Corinna;
Reynolds, Catherine;
... Heywood, Wendy E; + view all
(2022)
Quantitative, multiplexed, targeted proteomics for ascertaining variant specific SARS-CoV-2 antibody response.
Cell Reports Methods
, 2
(9)
, Article 100279. 10.1016/j.crmeth.2022.100279.
|
|
Doykov, ID;
Heywood, WE;
Nikolaenko, V;
Śpiewak, J;
Hällqvist, J;
Clayton, PT;
Mills, P;
... Mills, K; + view all
(2019)
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.
Journal of Medical Genetics
10.1136/jmedgenet-2019-106030.
(In press).
|
|
|
Doyle, R;
Gondwe, A;
Fan, Y-M;
Maleta, K;
Ashorn, P;
Klein, N;
Harris, K;
(2018)
Lactobacillus-deficient vaginal microbiota dominate post-partum women in rural Malawi.
Applied and Environmental Microbiology
, 84
(6)
, Article e02150-17. 10.1128/AEM.02150-17.
|
|
|
Doyle, RM;
Burgess, C;
Williams, R;
Gorton, R;
Booth, H;
Brown, J;
Bryant, JM;
... Breuer, J; + view all
(2018)
Direct whole genome sequencing of sputum accurately identifies drug resistant Mycobacterium tuberculosis faster than MGIT culture sequencing.
Journal of Clinical Microbiology
10.1128/JCM.00666-18.
(In press).
|
|
|
Doyle, RM;
O'Sullivan, DM;
Aller, SD;
Bruchmann, S;
Clark, T;
Coello Pelegrin, A;
Cormican, M;
... Harris, KA; + view all
(2020)
Discordant bioinformatic predictions of antimicrobial resistance from whole-genome sequencing data of bacterial isolates: an inter-laboratory study.
Microbial Genomics
10.1099/mgen.0.000335.
(In press).
|
|
|
Dubis, AM;
Lim, WS;
Jolly, JK;
Toms, M;
MacLaren, RE;
Webster, AR;
Moosajee, M;
(2021)
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia.
Journal of Clinical Medicine
, 10
(2)
, Article 232. 10.3390/jcm10020232.
|
|
|
Dudakova, L;
Tuft, S;
Cheong, S-S;
Skalicka, P;
Jedlickova, J;
Fichtl, M;
Hlozanek, M;
... Liskova, P; + view all
(2022)
Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Acta Ophthalmologica
, 100
(4)
pp. 431-439.
10.1111/aos.15022.
|
|
Dufek, S;
Cheshire, C;
Levine, AP;
Trompeter, RS;
Issler, N;
Stubbs, M;
Mozere, M;
... Bockenhauer, D; + view all
(2019)
Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome.
Journal of the American Society of Nephrology
, 30
(8)
pp. 1375-1384.
10.1681/ASN.2018101054.
|
|
|
Dufek, S;
Holtta, T;
Trautmann, A;
Ylinen, E;
Alpay, H;
Ariceta, G;
Aufricht, C;
... Shroff, R; + view all
(2019)
Management of children with congenital nephrotic syndrome: challenging treatment paradigms.
Nephrology Dialysis Transplantation
, 34
(8)
pp. 1369-1377.
10.1093/ndt/gfy165.
|
|
|
Dufek-Kamperis, S;
Kleta, R;
Bockenhauer, D;
Gale, D;
Downie, ML;
(2021)
Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood.
Pediatric Nephrology
, 36
pp. 2165-2175.
10.1007/s00467-020-04780-4.
|
|
Duff, Claire;
Alexander, Ian E;
Baruteau, Julien;
(2023)
Gene therapy for Urea Cycle Defects: an update from historical perspectives to future prospects.
Journal of Inherited Metabolic Disease
10.1002/jimd.12609.
(In press).
|
|
Duff, Claire;
Baruteau, Julien;
(2022)
Modelling urea cycle disorders using iPSCs.
npj Regenerative Medicine
, 7
, Article 56. 10.1038/s41536-022-00252-5.
|
|
Duignan, S;
Brownlee, W;
Wassmer, E;
Hemingway, C;
Lim, M;
Ciccarelli, O;
Hacohen, Y;
(2019)
Paediatric multiple sclerosis: What it is and what it is not.
Developmental Medicine and Child Neurology
, 61
(9)
pp. 1039-1049.
10.1111/dmcn.14212.
|
|
Duignan, S;
Wright, S;
Rossor, T;
Cazabon, J;
Gilmour, K;
Ciccarelli, O;
Wassmer, E;
... Hacohen, Y; + view all
(2018)
Myelin oligodendrocyte glycoprotein and aquaporin‐4 antibodies are highly specific in children with acquired demyelinating syndromes.
Developmental Medicine and Child Neurology
, 60
(9)
pp. 958-962.
10.1111/dmcn.13703.
|
|
Dulal, S;
Liégeois, F;
Osrin, D;
Kuczynski, A;
Manandhar, D;
Shrestha, B;
Sen, A;
... Audrey, P; + view all
(2018)
Does antenatal micronutrient supplementation improve children’s cognitive function? Evidence from the follow-up of a double-blind randomised controlled trial in Nepal.
BMJ Global Health
, 3
(1)
, Article e000527. 10.1136/bmjgh-2017-000527.
|
|
|
Dumba, Maureen;
Jawad, Noorulhuda;
McHugh, Kieran;
(2015)
Neuroblastoma and nephroblastoma: a radiological review.
Cancer imaging : the official publication of the International Cancer Imaging Society
, 15
pp. 5-14.
10.1186/s40644-015-0040-6.
|
|
|
Dunkel, Ira J;
Doz, François;
Foreman, Nicholas K;
Hargrave, Darren;
Lassaletta, Alvaro;
André, Nicolas;
Hansford, Jordan R;
... Cohen, Kenneth; + view all
(2023)
Nivolumab With or Without Ipilimumab in Pediatric Patients With High-Grade CNS Malignancies: Safety, Efficacy, Biomarker, and Pharmacokinetics: CheckMate 908.
Neuro-Oncology
, 25
(8)
pp. 1530-1545.
10.1093/neuonc/noad031.
|
|
Durkin, A;
DeVile, C;
Arundel, P;
Bull, M;
Walsh, J;
Bishop, NJ;
Hupin, E;
... Balasubramanian, M; + view all
(2021)
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Journal of Medical Genetics
10.1136/jmedgenet-2021-107942.
(In press).
|
|
|
Dzhuma, K;
Powis, M;
Vujanic, G;
Watson, T;
Olsen, O;
Shelmerdine, S;
Oostveen, M;
... Pritchard-Jones, K; + view all
(2022)
Surgical management, staging, and outcomes of Wilms tumours with intravascular extension: Results of the IMPORT study.
Journal of Pediatric Surgery
, 57
(4)
pp. 572-578.
10.1016/j.jpedsurg.2021.08.023.
|
E
|
Eastlake, K;
Lamb, WDB;
Luis, J;
Khaw, PT;
Jayaram, H;
Limb, GA;
(2021)
Prospects for the application of Müller glia and their derivatives in retinal regenerative therapies.
Progress in Retinal and Eye Research
, 85
, Article 100970. 10.1016/j.preteyeres.2021.100970.
|
|
Ebner, M;
Wang, G;
Li, W;
Aertsen, M;
Patel, PA;
Aughwane, R;
Melbourne, A;
... Vercauteren, T; + view all
(2019)
An automated framework for localization, segmentation and super-resolution reconstruction of fetal brain MRI.
NeuroImage
, Article 116324. 10.1016/j.neuroimage.2019.116324.
(In press).
|
|
|
Edwards, JJ;
Rouillard, AD;
Fernandez, NF;
Wang, Z;
Lachmann, A;
Shankaran, SS;
Bisgrove, BW;
... Gelb, BD; + view all
(2020)
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
JACC: Basic to Translational Science
, 5
(4)
pp. 376-386.
10.1016/j.jacbts.2020.01.012.
|
|
|
Efthymiou, Stephanie;
Dutra-Clarke, Marina;
Maroofian, Reza;
Kaiyrzhanov, Rauan;
Scala, Marcello;
Reza Alvi, Javeria;
Sultan, Tipu;
... Houlden, Henry; + view all
(2021)
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Epilepsia
, 62
(2)
e35-e41.
10.1111/epi.16801.
|
|
|
Efthymiou, Stephanie;
Han, Wenyan;
Ilyas, Muhammad;
Li, Jun;
Yu, Yichao;
Scala, Marcello;
Malintan, Nancy T;
... Houlden, Henry; + view all
(2024)
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Frontiers in Molecular Neuroscience
, 17
, Article 1222935. 10.3389/fnmol.2024.1222935.
|
|
Eintracht, J;
Corton, M;
FitzPatrick, D;
Moosajee, M;
(2020)
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.
European Journal of Human Genetics
, 28
pp. 679-690.
10.1038/s41431-019-0565-4.
|
|
Eintracht, J;
Forsythe, E;
May-Simera, H;
Moosajee, M;
(2021)
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
EBioMedicine
, 70
, Article 103515. 10.1016/j.ebiom.2021.103515.
|
|
|
Eintracht, J;
Toms, M;
Moosajee, M;
(2020)
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.
Frontiers in Cellular Neuroscience
, 14
, Article 265. 10.3389/fncel.2020.00265.
|
|
|
El-Dib, M;
Abend, NS;
Austin, T;
Boylan, G;
Chock, V;
Cilio, MR;
Greisen, G;
... McCaul, MC; + view all
(2022)
Neuromonitoring in neonatal critical care part II: extremely premature infants and critically ill neonates.
Pediatric Research
10.1038/s41390-022-02392-2.
(In press).
|
|
El-Dib, M;
Abend, NS;
Austin, T;
Boylan, G;
Chock, V;
Cilio, MR;
Greisen, G;
... McCaul, MC; + view all
(2022)
Neuromonitoring in neonatal critical care part I: neonatal encephalopathy and neonates with possible seizures.
Pediatric Research
10.1038/s41390-022-02393-1.
(In press).
|
|
|
Elangovan, Ramyia;
Baruteau, Julien;
(2022)
Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?
Frontiers in Pharmacology
, 13
, Article 972468. 10.3389/fphar.2022.972468.
|
|
Elbaz, M;
Ruiz, A;
Eckhardt, J;
Pelczar, P;
Muntoni, F;
Boncompagni, S;
Treves, S;
(2019)
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
Human Molecular Genetics
, 28
(11)
pp. 1872-1884.
10.1093/hmg/ddz025.
|
|
Eleftheriou, Despina;
Moraes, Yolanda Collaco;
Purvis, Cara;
Pursell, Molly;
Morillas, Marta Merida;
Kahn, Robin;
Mossberg, Maria;
... Brogan, Paul; + view all
(2023)
Multi-centre, randomised, open-label, blinded endpoint assessed, trial of corticosteroids plus intravenous immunoglobulin (IVIG) and aspirin, versus IVIG and aspirin for prevention of coronary artery aneurysms (CAA) in Kawasaki disease (KD): the KD CAA prevention (KD-CAAP) trial protocol.
Trials
, 24
(1)
, Article 60. 10.1186/s13063-022-07051-9.
|
|
Eley, KA;
Rossi-Espagnet, MC;
Schievano, S;
Napolitano, A;
Ong, J;
Secinaro, A;
Borro, L;
... D'Arco, F; + view all
(2021)
Multiparametric Imaging for Presurgical Planning of Craniopagus Twins: The Experience of Two Tertiary Pediatric Hospitals with Six Sets of Twins.
Radiology
, 298
(1)
pp. 18-27.
10.1148/radiol.2020202216.
|
|
Elfeky, R;
Shah, RM;
Unni, MN;
Ottaviano, G;
Rao, K;
Chiesa, R;
Amrolia, P;
... Veys, P; + view all
(2019)
New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies.
Journal of Allergy and Clinical Immunology
, 144
(1)
pp. 280-293.
10.1016/j.jaci.2019.01.030.
|
|
Elfeky, RA;
Furtado-Silva, JM;
Chiesa, R;
Rao, K;
Amrolia, P;
Lucchini, G;
Gilmour, K;
... Veys, P; + view all
(2018)
One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years.
[Letter].
Journal of Allergy and Clinical Immunology
, 142
(5)
1654-1656.e7.
10.1016/j.jaci.2018.06.042.
|
|
Elfeky, RA;
Furtado-Silva, JM;
Chiesa, R;
Rao, K;
Lucchini, G;
Amrolia, P;
Worth, A;
... Veys, P; + view all
(2018)
Umbilical cord blood transplantation without in vivo T-cell depletion for children with MHC class II deficiency.
Journal of Allergy and Clinical Immunology
, 141
(6)
2279-2282.e2.
10.1016/j.jaci.2017.10.051.
|
|
Elkhateeb, Nour;
Olivieri, Giorgia;
Siri, Barbara;
Boyd, Stewart;
Stepien, Karolina M;
Sharma, Reena;
Morris, Andrew AM;
... Baruteau, Julien; + view all
(2023)
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
10.1111/epi.17596.
(In press).
|
|
Ellis, Samuel;
Way, Rosie;
Miranda, Nel;
Smith, Claire;
Burleigh, Alice;
Doykov, Ivan;
Kembou-Ringert, Japhette;
... Smith, Claire M; + view all
(2023)
Salivary IgA and vimentin differentiate in vitro SARS-CoV-2 infection: a study of 290 convalescent COVID-19 patients.
Mucosal Immunology
10.1016/j.mucimm.2023.11.007..
(In press).
|
|
Elmi, AA;
Wynne, K;
Cheng, IL;
Eleftheriou, D;
Lachmann, HJ;
Hawkins, PN;
Brogan, P;
(2019)
Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome.
Pediatric Rheumatology
, 17
, Article 36. 10.1186/s12969-019-0335-4.
|
|
|
Elsman, EBM;
Tadić, V;
Peeters, CFW;
van Rens, GHMB;
Rahi, JS;
van Nispen, RMA;
(2019)
Cross-cultural validation of the Functional Vision Questionnaire for Children and Young People (FVQ_CYP) with visual impairment in the Dutch population: challenges and opportunities.
BMC Medical Research Methodology
, 19
, Article 221. 10.1186/s12874-019-0875-9.
|
|
|
Emmerzaal, TL;
Nijkamp, G;
Veldic, M;
Rahman, S;
Andreazza, AC;
Morava, E;
Rodenburg, RJ;
(2021)
Effect of neuropsychiatric medications on mitochondrial function; for better or for worse.
Neuroscience & Biobehavioral Reviews
, 127
pp. 555-571.
10.1016/j.neubiorev.2021.05.001.
|
|
Emmott, E;
Jay, M;
Woodman, J;
(2019)
Cohort profile: Children in Need Census (CIN) records of children referred for social care support in England.
BMJ Open
, 9
(2)
, Article e023771. 10.1136/bmjopen-2018-023771.
|
|
|
Enshaei, A;
O'Connor, D;
Bartram, J;
Hancock, J;
Harrison, CJ;
Hough, R;
Samarasinghe, S;
... Moorman, AV; + view all
(2020)
A validated novel continuous prognostic index to deliver stratified medicine in pediatric acute lymphoblastic leukemia.
Blood
, 135
(17)
pp. 1438-1446.
10.1182/blood.2019003191.
|
|
Eriksson, Maria H;
Ripart, Mathilde;
Piper, Rory J;
Moeller, Friederike;
Das, Krishna B;
Eltze, Christin;
Cooray, Gerald;
... Wagstyl, Konrad; + view all
(2023)
Predicting seizure outcome after epilepsy surgery: do we need more complex models, larger samples, or better data?
Epilepsia
, 64
(8)
pp. 2014-2026.
10.1111/epi.17637.
|
|
Escolino, M;
Esposito, C;
Eaton, S;
Di Maro, E;
Cozzolino, S;
Vitagliano, G;
D'Armiento, M;
... De Coppi, P; + view all
(2020)
Laparoscopic Injection of Tissue Adhesives for Inguinal Hernia Repair in a Rabbit Model: Results of an Experimental Comparative Study with the Standard Laparoscopic Inguinal Hernia Repair.
Journal of Laparoendoscopic and Advanced Surgical Techniques
, 30
(7)
pp. 847-853.
10.1089/lap.2020.0015.
|
|
Estevez-Fraga, C;
Magrinelli, F;
Latorre, A;
Cordivari, C;
Houlden, H;
Tinazzi, M;
Hemingway, C;
... Bhatia, KP; + view all
(2020)
A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers.
Parkinsonism and Related Disorders
, 79
pp. 97-99.
10.1016/j.parkreldis.2020.08.016.
|
|
Etherton, Katie;
Rahi, Jugnoo S;
Petrushkin, Harry;
Dick, Andrew D;
Akbarali, Saira;
Pattani, Reshma;
Hau, Scott;
... Solebo, Ameenat Lola; + view all
(2022)
Quantitative and qualitative assessment of anterior segment optical coherence tomography capture of disease state in childhood anterior uveitis.
British Journal of Ophthalmology
10.1136/bjophthalmol-2021-320448.
(In press).
|
|
Evans, REC;
Barber, V;
Seaton, S;
Draper, ES;
Rajah, F;
Pagel, C;
Polke, E;
... the DEPICT Study Investigators; + view all
(2022)
Development of a parent experience measure for paediatric critical care transport teams.
Nursing in Critical Care
, 27
(3)
pp. 367-374.
10.1111/nicc.12648.
|
|
Evans, Ruth EC;
Barber, Vicky;
Ramnarayan, Padmanabhan;
Davies, Patrick;
Wray, Jo;
On behalf of the DEPICT Study Group;
(2023)
Emergency Inter-Hospital Transfer of Children to PICUs in the United Kingdom: Qualitative Exploration of Parents’ Experiences of Retrieval Teams.
Pediatric Critical Care Medicine
, 24
(10)
e476-e486.
10.1097/PCC.0000000000003267.
|
|
Evans, M;
Corden, MH;
Crehan, C;
Fitzgerald, F;
Heys, M;
(2021)
Refining clinical algorithms for a neonatal digital platform for low-income countries: a modified Delphi technique.
BMJ Open
, 11
(5)
, Article e042124. 10.1136/bmjopen-2020-042124.
|
|
Eyre, M;
Hacohen, Y;
Barton, C;
Hemingway, C;
Lim, M;
(2018)
Therapeutic plasma exchange in paediatric neurology: a critical review and proposed treatment algorithm.
Developmental Medicine & Child Neurology
, 60
(8)
pp. 765-779.
10.1111/dmcn.13925.
|
|
Eyre, M;
Hacohen, Y;
Lamb, K;
Absoud, M;
Agrawal, S;
Gadian, J;
Gupta, R;
... Hemingway, C; + view all
(2019)
Utility and safety of plasma exchange in paediatric neuroimmune disorders.
Developmental Medicine & Child Neurology
, 61
(5)
pp. 540-546.
10.1111/dmcn.14150.
|
|
Eyre, M;
Hameed, A;
Wright, S;
Brownlee, W;
Ciccarelli, O;
Bowman, R;
Lim, M;
... Hacohen, Y; + view all
(2018)
Retinal nerve fibre layer thinning is associated with worse visual outcome after optic neuritis in children with a relapsing demyelinating syndrome.
Developmental Medicine and Child Neurology
, 60
(12)
10.1111/dmcn.13757.
|
F
|
Fabes, J;
Ambler, G;
Shah, B;
Williams, NR;
Martin, D;
Davidson, BR;
Spiro, M;
(2021)
Protocol for a prospective double-blind, randomised, placebo-controlled feasibility trial of octreotide infusion during liver transplantation.
BMJ Open
, 11
(12)
, Article e055864. 10.1136/bmjopen-2021-055864.
|
|
|
Fabian, ID;
Onadim, Z;
Karaa, E;
Duncan, C;
Chowdhury, T;
Scheimberg, I;
Ohnuma, S-I;
... Sagoo, MS; + view all
(2018)
The management of retinoblastoma.
Oncogene
, 37
pp. 1551-1560.
10.1038/s41388-017-0050-x.
|
|
Fabian, ID;
Shah, V;
Kapelushnik, N;
Naeem, Z;
Onadim, Z;
Price, E;
Chowdhury, T;
... Reddy, MA; + view all
(2019)
Examinations under anaesthesia as a measure of disease burden in unilateral retinoblastoma: the London experience.
British Journal of Ophthalmology
10.1136/bjophthalmol-2018-313556.
(In press).
|
|
|
Fabian, ID;
Shah, V;
Kapelushnik, N;
Naeem, Z;
Onadim, Z;
Price, EA;
Duncan, C;
... Reddy, MA; + view all
(2020)
Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma.
Graefe's Archive for Clinical and Experimental Ophthalmology
, 258
pp. 879-886.
10.1007/s00417-019-04589-4.
|
|
Fabian, ID;
Stacey, AW;
Foster, A;
Kivelä, TT;
Munier, FL;
Keren-Froim, N;
Gomel, N;
... Bowman, R; + view all
(2020)
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-316613.
(In press).
|
|
Fabian, ID;
Stacey, AW;
Johnson, KC;
Chowdhury, T;
Duncan, C;
Reddy, MA;
Sagoo, MS;
(2017)
Primary enucleation for group D retinoblastoma in the era of systemic and targeted chemotherapy: the price of retaining an eye.
British Journal of Ophthalmology
, 102
(2)
pp. 265-271.
10.1136/bjophthalmol-2017-310624.
|
|
|
Fagan, A;
Arthurs, OJ;
Sebire, NJ;
Shelmerdine, SC;
(2022)
Cinematic rendering of paediatric musculoskeletal pathologies: initial experiences with CT.
Clinical Radiology
, 77
(4)
pp. 274-282.
10.1016/j.crad.2022.01.033.
|
|
Faiman, I;
Smith, S;
Hodsoll, J;
Young, AH;
Shotbolt, P;
(2021)
Resting-state EEG for the diagnosis of idiopathic epilepsy and psychogenic nonepileptic seizures: A systematic review.
Epilepsy & Behavior
, 121
(A)
, Article 108047. 10.1016/j.yebeh.2021.108047.
|
|
|
Fajardo, RD;
van den Heuvel-Eibrink, MM;
van Tinteren, H;
Spreafico, F;
Acha, T;
Bergeron, C;
de Camargo, B;
... van Grotel, M; + view all
(2020)
Is radiotherapy required in first-line treatment of stage I diffuse anaplastic Wilms tumor? A report of SIOP-RTSG, AIEOP, JWiTS, and UKCCSG.
Pediatric Blood & Cancer
, 67
(2)
, Article e28039. 10.1002/pbc.28039.
|
|
Fanni, BM;
Sauvage, E;
Celi, S;
Norman, W;
Vignali, E;
Landini, L;
Schievano, S;
... Capelli, C; + view all
(2020)
A Proof of Concept of a Non-Invasive Image-Based Material Characterization Method for Enhanced Patient-Specific Computational Modeling.
Cardiovascular Engineering and Technology
, 11
(5)
pp. 532-543.
10.1007/s13239-020-00479-7.
|
|
Farah, N;
Kirkwood, AA;
Rahman, S;
Leon, T;
Jenkinson, S;
Gale, RE;
Patrick, K;
... Mansour, MR; + view all
(2018)
Prognostic impact of the absence of biallelic deletion at theTRGlocus for pediatric patients with T-cell acute lymphoblastic leukemia treated on the MRC UKALL2003 trial.
Haematologica
, 103
(7)
e288-e292.
10.3324/haematol.2017.185801.
|
|
|
Faramand, AM;
Barnes, N;
Harrison, S;
Gunny, R;
Jacques, T;
Tahir, MZ;
Varadkar, SM;
... Tisdall, MM; + view all
(2018)
Seizure and cognitive outcomes after resection of glioneuronal tumors in children.
Epilepsia
, 59
(1)
pp. 170-178.
10.1111/epi.13961.
|
|
|
Farmer, JR;
Foldvari, Z;
Ujhazi, B;
De Ravin, SS;
Chen, K;
Bleesing, JJH;
Schuetz, C;
... Walter, JE; + view all
(2019)
Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency.
Journal of Allergy and Clinical Immunology: In Practice
10.1016/j.jaip.2019.02.038.
|
|
|
Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
|
|
|
Farrer, RA;
Ford, CB;
Rhodes, J;
Delorey, T;
May, RC;
Fisher, MC;
Cloutman-Green, E;
... Cuomo, CA; + view all
(2018)
Transcriptional Heterogeneity of Cryptococcus gattii VGII Compared with Non-VGII Lineages Underpins Key Pathogenicity Pathways.
mSphere
, 3
(5)
, Article e00445-18. 10.1128/mSphere.00445-18.
|
|
|
Fassad, MR;
Shoemark, A;
le Borgne, P;
Koll, F;
Patel, M;
Dixon, M;
Hayward, J;
... Mitchison, HM; + view all
(2018)
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
The American Journal of Human Genetics
, 102
(5)
pp. 956-972.
10.1016/j.ajhg.2018.03.024.
|
|
|
Fassad, MR;
Shoemark, A;
Legendre, M;
Hirst, RA;
Koll, F;
le Borgne, P;
Louis, B;
... Mitchison, HM; + view all
(2018)
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
The American Journal of Human Genetics
10.1016/j.ajhg.2018.10.016.
(In press).
|
|
Fassad, MR;
Shoman, WI;
Morsy, H;
Patel, MP;
Radwan, N;
Jenkins, L;
Cullup, T;
... Fasseeh, N; + view all
(2020)
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Clinical Genetics
, 97
(3)
pp. 509-515.
10.1111/cge.13661.
|
|
Fautsch, MP;
Wieben, ED;
Baratz, KH;
Bhattacharyya, N;
Sadan, AN;
Hafford-Tear, NJ;
Tuft, SJ;
(2020)
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat associated disease.
Progress in Retinal and Eye Research
, Article 100883. 10.1016/j.preteyeres.2020.100883.
(In press).
|
|
|
Feinstein, Y;
Walker, JC;
Peters, MJ;
Nadel, S;
Pathan, N;
Edmonds, N;
Herberg, J;
... Ramnarayan, P; + view all
(2018)
Cohort profile of the Biomarkers of Acute Serious Illness in Children (BASIC) study: a prospective multicentre cohort study in critically ill children.
BMJ Open
, 8
(11)
, Article e024729. 10.1136/bmjopen-2018-024729.
|
|
|
Feleke, R;
Reynolds, RH;
Smith, AM;
Tilley, B;
Taliun, SAG;
Hardy, J;
Matthews, PM;
... Ryten, M; + view all
(2021)
Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases.
Acta Neuropathologica
10.1007/s00401-021-02343-x.
(In press).
|
|
|
Feng, Xiyu;
Piper, Rory J;
Prentice, Freya;
Clayden, Jonathan D;
Baldeweg, Torsten;
(2024)
Functional brain connectivity in children with focal epilepsy: A systematic review of functional MRI studies.
Seizure
, 117
pp. 164-173.
10.1016/j.seizure.2024.02.021.
|
|
Fern, LA;
Taylor, RM;
Barber, J;
Alvarez-Galvez, J;
Feltbower, R;
Lea, S;
Martins, A;
... Whelan, J; + view all
(2021)
Processes of care and survival associated with treatment in specialist teenage and young adult cancer centres: results from the BRIGHTLIGHT cohort study.
BMJ Open
, 11
(4)
, Article e044854. 10.1136/bmjopen-2020-044854.
|
|
|
Ferrari, G;
Muntoni, F;
Tedesco, FS;
(2020)
Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.
Stem Cell Research
, 43
, Article 101688. 10.1016/j.scr.2019.101688.
|
|
|
Ferrari, G;
Thrasher, AJ;
Aiuti, A;
(2021)
Gene therapy using haematopoietic stem and progenitor cells.
Nature Reviews Genetics
, 22
(4)
pp. 216-234.
10.1038/s41576-020-00298-5.
|
|
|
Ferreira, CR;
Rahman, S;
Keller, M;
Zschocke, J;
ICIMD advisory group;
(2021)
An International Classification of Inherited Metabolic Disorders (ICIMD).
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 164-177.
10.1002/jimd.12348.
|
|
Ferreira, MA;
Gamazon, ER;
Al-Ejeh, F;
Aittomäki, K;
Andrulis, IL;
Anton-Culver, H;
Arason, A;
... Chenevix-Trench, G; + view all
(2019)
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Nature Communications
, 10
, Article 1741. 10.1038/s41467-018-08053-5.
|
|
|
Ferretti, L;
Mellis, R;
Chitty, LS;
(2019)
Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
European Journal of Medical Genetics
, 62
(8)
, Article 103663. 10.1016/j.ejmg.2019.05.002.
|
|
Ferrini, A;
Steel, D;
Barwick, K;
Kurian, MA;
(2021)
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Movement Disorders
10.1002/mds.28495.
(In press).
|
|
|
Ferrua, F;
Galimberti, S;
Courteille, V;
Slatter, MA;
Booth, C;
Moshous, D;
Neven, B;
... SCETIDE, PIDTC, EBMT & ESID IEWP, .; + view all
(2019)
Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study.
Journal of Allergy and Clinical Immunology
10.1016/j.jaci.2018.12.1010.
(In press).
|
|
|
Festa, NT;
Thakkar, H;
Hewitt, R;
Dhaiban, M;
Muthialu, N;
Cross, K;
De Coppi, P;
(2021)
Foreign body ingestion during the COVID-19 pandemic: a retrospective single centre review.
BMJ Paediatrics Open
, 5
(1)
, Article e001042. 10.1136/bmjpo-2021-001042.
|
|
|
Field, E;
Norrish, G;
Acquaah, V;
Dady, K;
Cicerchia, M;
Ochoa, JP;
Syrris, P;
... Kaski, JP; + view all
(2021)
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
Journal of Medical Genetics
10.1136/jmedgenet-2021-107774.
(In press).
|
|
Filipow, Nicole;
Main, Eleanor;
Sebire, Neil J;
Booth, John;
Taylor, Andrew M;
Davies, Gwyneth;
Stanojevic, Sanja;
(2022)
Implementation of prognostic machine learning algorithms in paediatric chronic respiratory conditions: a scoping review.
BMJ Open Respir Res
, 9
(1)
, Article e001165. 10.1136/bmjresp-2021-001165.
|
|
Filipow, Nicole;
Main, Eleanor;
Tanriver, Gizem;
Raywood, Emma;
Davies, Gwyneth;
Douglas, Helen;
Laverty, Aidan;
(2023)
Exploring flexible polynomial regression as a method to align routine clinical outcomes with daily data capture through remote technologies.
BMC Medical Research Methodology
, 23
, Article 114. 10.1186/s12874-023-01942-4.
|
|
|
Filipow, Nicole;
Stanojevic, Sanja;
Raywood, Emma;
Shannon, Harriet;
Tanriver, Gizem;
Kapoor, Kunal;
Douglas, Helen;
... Main, Eleanor; + view all
(2023)
Real world effectiveness of airway clearance techniques in children with cystic fibrosis.
European Respiratory Journal
, 62
(3)
, Article 2300522. 10.1183/13993003.00522-2023.
|
|
Finkel, RS;
Mercuri, E;
Meyer, OH;
Simonds, AK;
Schroth, MK;
Graham, RJ;
Kirschner, J;
... Sejersen, T; + view all
(2018)
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Neuromuscular Disorders
, 28
(3)
pp. 197-207.
10.1016/j.nmd.2017.11.004.
|
|
|
Fiorentino, A;
Fujinami, K;
Arno, G;
Robson, AG;
Pontikos, N;
Arasanz Armengol, M;
Plagnol, V;
... 100,000 Genomes Project, the Japan Eye Genetic Consortium & the; + view all
(2018)
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Human Mutation
, 39
(1)
pp. 80-91.
10.1002/humu.23349.
|
|
Fischer, DC;
Smith, C;
De Zan, F;
Bacchetta, J;
Bakkaloglu, SA;
Agbas, A;
Anarat, A;
... Shroff, R; + view all
(2021)
Hemodiafiltration Is Associated With Reduced Inflammation and Increased Bone Formation Compared With Conventional Hemodialysis in Children: The HDF, Hearts and Heights (3H) Study.
Kidney International Reports
, 6
(9)
pp. 2358-2370.
10.1016/j.ekir.2021.06.025.
|
|
|
Fisher, C;
Ciurtin, C;
Leandro, M;
Sen, D;
Wedderburn, LR;
(2021)
Similarities and Differences Between Juvenile and Adult Spondyloarthropathies.
Frontiers in Medicine
, 8
, Article 681621. 10.3389/fmed.2021.681621.
|
|
|
Fisher, J;
Sharma, R;
Don, DW;
Barisa, M;
Hurtado, MO;
Abramowski, P;
Porter, L;
... Pe'er, D; + view all
(2019)
Engineering gamma delta T cells limits tonic signaling associated with chimeric antigen receptors.
Science Signaling
, 12
(598)
, Article eaax1872. 10.1126/scisignal.aax1872.
|
|
|
Fisher, RS;
Cross, JH;
D Souza, C;
French, JA;
Haut, SR;
Higurashi, N;
Hirsch, E;
... Zuberi, SM; + view all
(2018)
Anleitung („instruction manual“) zur Anwendung der operationalen Klassifikation von Anfallsformen der ILAE 2017
// Instruction manual for the ILAE 2017 operational classification of seizure types.
Zeitschrift fur Epileptologie
, 31
(4)
pp. 282-295.
10.1007/s10309-018-0217-7.
|
|
Fisher, RS;
Cross, JH;
French, JA;
Higurashi, N;
Hirsch, E;
Jansen, FE;
Lagae, L;
... Zuberi, SM; + view all
(2018)
Operationale Klassifikation der Anfallsformen durch die Internationale Liga gegen Epilepsie: Positionspapier der ILAE-Klassifikations- und Terminologiekommission // Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology.
Zeitschrift fur Epileptologie
, 31
(4)
pp. 272-281.
10.1007/s10309-018-0216-8.
|
|
Fittall, MW;
Mifsud, W;
Pillay, N;
Ye, H;
Strobl, A-C;
Verfaillie, A;
Demeulemeester, J;
... Behjati, S; + view all
(2018)
Recurrent rearrangements of FOS and FOSB define osteoblastoma.
Nat Commun
, 9
(1)
, Article 2150. 10.1038/s41467-018-04530-z.
|
|
|
Fitzgerald, F;
Wing, K;
Naveed, A;
Gbessay, M;
Ross, JCG;
Checchi, F;
Youkee, D;
... Yeung, S; + view all
(2018)
Development of a pediatric ebola predictive score, Sierra Leone.
Emerging Infectious Diseases
, 24
(2)
pp. 311-319.
10.3201/eid2402.171018.
|
|
|
Flaherty, T;
Tamaddon, M;
Liu, C;
(2021)
Micro-Computed Tomography Analysis of Subchondral Bone Regeneration Using Osteochondral Scaffolds in an Ovine Condyle Model.
Applied Sciences
, 11
(3)
, Article 891. 10.3390/app11030891.
|
|
|
Flitcroft, DI;
He, M;
Jonas, JB;
Jong, M;
Naidoo, K;
Ohno-Matsui, K;
Rahi, J;
... Yannuzzi, L; + view all
(2019)
IMI - Defining and Classifying Myopia: A Proposed Set of Standards for Clinical and Epidemiologic Studies.
Investigative Ophthalmology and Visual Science
, 60
(3)
M20-M30.
10.1167/iovs.18-25957.
|
|
|
Foeldvari, I;
Klotsche, J;
Kasapcopur, O;
Adrovic, A;
Terreri, MT;
Sakamoto, AP;
Stanevicha, V;
... Torok, KS; + view all
(2021)
Differences sustained between diffuse and limited forms of juvenile systemic sclerosis in expanded international cohort. www.juvenile-scleroderma.com.
Arthritis Care and Research
10.1002/acr.24609.
(In press).
|
|
Foeldvari, Ivan;
Torok, Kathryn S;
Anton, Jordi;
Blakley, Michael;
Constantin, Tamás;
Curran, Megan;
Cutolo, Maurizio;
... Furst, Daniel E; + view all
(2023)
Proposed Response Parameters for Twelve-Month Drug Trial in Juvenile Systemic Sclerosis: Results of the Hamburg International Consensus Meetings.
Arthritis Care & Research
, 75
(12)
pp. 2453-2462.
10.1002/acr.25171.
|
|
Foeldvari, Ivan;
Torok, Kathryn S;
Antón, Jordi;
Blakley, Michael;
Constantin, Tamás;
Cutolo, Maurizio;
Denton, Christopher P;
... Furst, Daniel F; + view all
(2024)
Best clinical practice in the treatment of juvenile systemic sclerosis: expert panel guidance - the result of the International Hamburg Consensus Meeting December 2022.
Expert Review of Clinical Immunology
, 20
(4)
pp. 387-404.
10.1080/1744666X.2023.2298354.
|
|
Foeldvari, I;
Klotsche, J;
Torok, KS;
Kasapcopur, O;
Adrovic, A;
Stanevicha, V;
Terreri, MT;
... Helmus, N; + view all
(2019)
Are diffuse and limited juvenile systemic sclerosis different in clinical presentation? Clinical characteristics of a juvenile systemic sclerosis cohort.
Journal of Scleroderma and Related Disorders
, 4
(1)
pp. 49-61.
10.1177/2397198318790494.
|
|
Foley, AR;
Zou, Y;
Dunford, JE;
Rooney, J;
Chandra, G;
Xiong, H;
Straub, V;
... Bonnemann, CG; + view all
(2020)
GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Annals of Neurology
10.1002/ana.25772.
(In press).
|
|
|
Foley, E;
Cross, JH;
Thai, NJ;
Walsh, AR;
Bill, P;
Furlong, P;
Wood, AG;
... Seri, S; + view all
(2019)
MEG Assessment of Expressive Language in Children Evaluated for Epilepsy Surgery.
Brain Topography
10.1007/s10548-019-00703-1.
(In press).
|
|
|
Forny, P;
Footitt, E;
Davison, JE;
Lam, A;
Woodward, CE;
Batzios, S;
Bhate, S;
... Rahman, S; + view all
(2021)
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Neurology: Genetics
, 7
(3)
, Article e597. 10.1212/nxg.0000000000000597.
|
|
|
Forny, P;
Hochuli, M;
Rahman, Y;
Deheragoda, M;
Weber, A;
Baruteau, J;
Grunewald, S;
(2019)
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Journal of Inherited Metabolic Disease
, 42
(5)
pp. 793-802.
10.1002/jimd.12143.
|
|
Forslund, T;
Granqvist, P;
van IJzendoorn, MH;
Sagi-Schwartz, A;
Glaser, D;
Steele, M;
Hammarlund, M;
... Duschinsky, R; + view all
(2021)
Attachment goes to court: child protection and custody issues.
Attachment & Human Development
10.1080/14616734.2020.1840762.
(In press).
|
|
|
Forster, Alice S;
Herbert, Annie;
Koo, Minjoung Monica;
Taylor, Rachel M;
Gibson, Faith;
Whelan, Jeremy S;
Lyratzopoulos, Georgios;
(2022)
Associations between diagnostic time intervals and health-related quality of life, clinical anxiety and depression in adolescents and young adults with cancer: cross-sectional analysis of the BRIGHTLIGHT cohort.
British Journal of Cancer
10.1038/s41416-022-01698-6.
(In press).
|
|
|
Fox, TA;
Houghton, BC;
Booth, C;
(2022)
Gene Edited T Cell Therapies for Inborn Errors of Immunity.
Frontiers in Genome Editing
, 4
, Article 899294. 10.3389/fgeed.2022.899294.
|
|
|
Fox, Thomas Andrew;
Houghton, Benjamin Christopher;
Petersone, Lina;
Waters, Erin;
Edner, Natalie Mona;
McKenna, Alex;
Preham, Olivier;
... Morris, Emma Catherine; + view all
(2022)
Therapeutic gene editing of T cells to correct CTLA-4 insufficiency.
Science Translational Medicine
, 14
(668)
, Article eabn5811. 10.1126/scitranslmed.abn5811.
|
|
Fraioli, F;
Shankar, A;
Hyare, H;
Ferrazzoli, V;
Militano, V;
Samandouras, G;
Mankad, K;
... Novruzov, F; + view all
(2020)
The use of multiparametric 18F-fluoro-L-3,4-dihydroxy-phenylalanine PET/MRI in post-therapy assessment of patients with gliomas.
Nuclear Medicine Communications
, 41
(6)
pp. 517-525.
10.1097/MNM.0000000000001184.
|
|
Franchi, T;
Eaton, S;
De Coppi, P;
Giuliani, S;
(2019)
The emerging role of immunothrombosis in paediatric conditions.
Pediatric Research
, 86
pp. 19-27.
10.1038/s41390-019-0343-6.
|
|
Frank, DE;
Schnell, FJ;
Akana, C;
El-Husayni, SH;
Desjardins, CA;
Morgan, J;
Charleston, JS;
... SKIP-NMD Study Group; + view all
(2020)
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.
Neurology
10.1212/WNL.0000000000009233.
(In press).
|
|
|
Fraser, J;
Fardus-Reid, F;
Irvine, L;
Elliss-Brookes, L;
Fern, L;
Cameron, AL;
Pritchard-Jones, K;
... McCabe, MG; + view all
(2021)
Oral etoposide as a single agent in childhood and young adult cancer in England: Still a poorly evaluated palliative treatment.
Pediatric Blood & Cancer
, Article e29204. 10.1002/pbc.29204.
(In press).
|
|
|
Frauenfelder, C;
Hall, A;
Walsh, B;
Ross, A;
Broughton, E;
Hynds, RE;
Nandi, R;
... Butler, CR; + view all
(2022)
Use of Simulation to Visualize Healthcare Worker Exposure to Aerosol in the Operating Room.
Simulation in Healthcare
, 17
(1)
pp. 66-67.
10.1097/SIH.0000000000000581.
|
|
Freguja, R;
Bamford, A;
Zanchetta, M;
Del Bianco, P;
Giaquinto, C;
Harper, L;
Dalzini, A;
... De Rossi, A; + view all
(2021)
Long‐term clinical, virological and immunological outcomes following planned treatment interruption in HIV‐infected children.
HIV Medicine
, 22
(3)
pp. 172-184.
10.1111/hiv.12986.
|
|
French, JA;
Brodie, MJ;
Caraballo, R;
Devinsky, O;
Ding, D;
Jehi, L;
Jette, N;
... Cross, JH; + view all
(2020)
Keeping people with epilepsy safe during the Covid-19 pandemic.
Neurology
, 94
(23)
pp. 1032-1037.
10.1212/WNL.0000000000009632.
|
|
Fridman, Vera;
Sillau, Stefan;
Bockhorst, Jacob;
Smith, Kaitlin;
Moroni, Isabella;
Pagliano, Emanuela;
Pisciotta, Chiara;
... Inherited Neuropathies Consortium-Rare Diseases Clinical Researc; + view all
(2023)
Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study.
Annals of Neurology
, 93
(3)
pp. 563-576.
10.1002/ana.26518.
|
|
Fridman, V;
Sillau, S;
Acsadi, G;
Bacon, C;
Dooley, K;
Burns, J;
Day, J;
... Shy, ME; + view all
(2020)
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Neurology
, 94
(9)
E884-E896.
10.1212/WNL.0000000000009035.
|
|
Frith, TJR;
Gogolou, A;
Hackland, JOS;
Hewitt, ZA;
Moore, HD;
Barbaric, I;
Thapar, N;
... McCann, CJ; + view all
(2020)
Retinoic Acid Accelerates the Specification of Enteric Neural Progenitors from In-Vitro-Derived Neural Crest.
Stem Cell Reports
, 15
(3)
pp. 557-565.
10.1016/j.stemcr.2020.07.024.
|
|
|
Fritsch, DM;
Sowden, JC;
Thompson, DA;
(2018)
Pattern Onset ERGs and VEPs Produced by Patterns Arising From Light Increment and Decrement.
Investigative Ophthalmology & Visual Science
, 59
(1)
pp. 94-99.
10.1167/iovs.17-22984.
|
|
|
Frontera, A;
Vlachos, K;
Kitamura, T;
Mahida, S;
Pillois, X;
Fahy, G;
Marquie, C;
... Derval, N; + view all
(2019)
Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.
Journal of the American Heart Association
, 8
(9)
, Article e011172. 10.1161/JAHA.118.011172.
|
|
Frost, Olivia;
Ridout, Deborah;
Rodrigues, Warren;
Wellman, Paul;
Cassidy, Jane;
Tsang, Victor T;
Dorobantu, Dan;
... Brown, Katherine L; + view all
(2024)
Prospective evaluation of acute neurological events after paediatric cardiac surgery.
Cardiology in the Young
pp. 1-9.
10.1017/S1047951124000167.
(In press).
|
|
Fujinami, K;
Oishi, A;
Yang, L;
Arno, G;
Pontikos, N;
Yoshitake, K;
Fujinami-Yokokawa, Y;
... Japan Eye Genetics Consortium study group, .; + view all
(2020)
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, 184
(3)
pp. 656-674.
10.1002/ajmg.c.31826.
|
|
|
Fujinami-Yokokawa, Y;
Fujinami, K;
Kuniyoshi, K;
Hayashi, T;
Ueno, S;
Mizota, A;
Shinoda, K;
... Japan Eye Genetics Consortium, .; + view all
(2020)
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
Scientific Reports
, 10
, Article 9531. 10.1038/s41598-020-65737-z.
|
|
|
Funkhouser, CH;
Kinsler, VA;
Frieden, IJ;
(2019)
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.
Pediatric Dermatology
, 36
(4)
pp. 511-513.
10.1111/pde.13831.
|
G
|
Gaba, Faiza;
Oxley, Samuel;
Liu, Xinting;
Yang, Xin;
Chandrasekaran, Dhivya;
Kalsi, Jatinderpal;
Antoniou, Antonis;
... Manchanda, Ranjit; + view all
(2022)
Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews.
Diagnostics
, 12
(5)
, Article 1028. 10.3390/diagnostics12051028.
|
|
Gaba, F;
Blyuss, O;
Liu, X;
Goyal, S;
Lahoti, N;
Chandrasekaran, D;
Kurzer, M;
... Manchanda, R; + view all
(2020)
Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention.
Cancers
, 12
(5)
, Article 1241. 10.3390/cancers12051241.
|
|
|
Gabelli, M;
Ademokun, C;
Cooper, N;
Amrolia, PI;
(2022)
Pathogenesis, risk factors and therapeutic options for autoimmune haemolytic anaemia in the post-transplant setting.
British Journal of Haematology
, 196
(1)
pp. 45-62.
10.1111/bjh.17648.
|
 |
|
Gabelli, Maria;
Oporto-Espuelas, Macarena;
Bonney, Denise Kathleen;
Burridge, Saskia;
Farish, Susan;
Mullanfiroze, Khushnuma;
Lazareva, Arina;
... Ghorashian, Sara; + view all
(2024)
Maintenance therapy for early loss of B-cell aplasia after CD19 CAR T-cell therapy.
Blood Advances
, 8
(8)
pp. 1959-1963.
10.1182/bloodadvances.2023011168.
|
|
Gabelli, Maria;
Stepensky, Polina;
Ottaviano, Giorgio;
Mullanfiroze, Khushnuma;
Lazareva, Arina;
Zaidman, Irina;
Even-Or, Ehud;
... Rao, Kanchan; + view all
(2023)
Incremental donor lymphocyte infusion to treat mixed chimerism after allogeneic stem cell transplantation in children with non-malignant diseases.
Bone Marrow Transplantation
, 58
pp. 109-111.
10.1038/s41409-022-01844-x.
|
|
Gagunashvili, AN;
Ocaka, L;
Kelberman, D;
Munot, P;
Bacchelli, C;
Beales, PL;
Ganesan, V;
(2019)
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Human Genome Variation
, 6
, Article 35. 10.1038/s41439-019-0066-6.
|
|
|
Gains, JE;
Sebire, NJ;
Moroz, V;
Wheatley, K;
Gaze, MN;
(2018)
Immunohistochemical evaluation of molecular radiotherapy target expression in neuroblastoma tissue.
European Journal of Nuclear Medicine and Molecular Imaging
, 45
(3)
pp. 402-411.
10.1007/s00259-017-3856-4.
|
|
|
Galazzi, E;
Improda, N;
Cerbone, M;
Soranna, D;
Moro, M;
Fatti, LM;
Zambon, A;
... Persani, L; + view all
(2021)
Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth-promoting therapy in peripubertal growth delays: Results of a retrospective study among ENDO-ERN centres.
Clinical Endocrinology
, 94
(2)
pp. 219-228.
10.1111/cen.14337.
|
|
|
Gale, Daniel P;
Gross, Oliver;
Wang, Fang;
Esteban de la Rosa, Rafael Jose;
Hall, Matthew;
Sayer, John A;
Appel, Gerald;
... Ding, Jie; + view all
(2024)
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome.
Clinical Journal of the American Society of Nephrology (CJASN)
, 19
(8)
pp. 995-1004.
10.2215/CJN.0000000000000458.
|
|
Gale, D;
Mallett, A;
Patel, C;
Sneddon, TP;
Rehm, HL;
Sampson, MG;
Bockenhauer, D;
(2020)
Diagnoses of uncertain significance: kidney genetics in the 21st century.
Nature Reviews Nephrology
, 16
pp. 616-618.
10.1038/s41581-020-0277-6.
|
|
Gan, Hoong-Wei;
Cerbone, Manuela;
Dattani, Mehul Tulsidas;
(2024)
Appetite- and Weight-Regulating Neuroendocrine Circuitry in Hypothalamic Obesity.
Endocrine Reviews
, 45
(3)
pp. 309-342.
10.1210/endrev/bnad033.
|
|
Gan, Hoong-Wei;
Morillon, Paul;
Albanese, Assunta;
Aquilina, Kristian;
Chandler, Chris;
Chang, Yen-Ching;
Drimtzias, Evangelos;
... Spoudeas, Helen Alexandra; + view all
(2023)
National UK guidelines for the management of paediatric craniopharyngioma.
The Lancet Diabetes & Endocrinology
, 11
(9)
pp. 694-706.
10.1016/S2213-8587(23)00162-6.
|
|
Gan, HW;
Leeson, C;
Aitkenhead, H;
Dattani, M;
(2023)
Inaccuracies in plasma oxytocin extraction and enzyme immunoassay techniques.
Comprehensive Psychoneuroendocrinology
, 15
, Article 100188. 10.1016/j.cpnec.2023.100188.
|
|
García, M;
Bonafont, J;
Martínez-Palacios, J;
Xu, R;
Turchiano, G;
Svensson, S;
Thrasher, AJ;
... Murillas, R; + view all
(2022)
Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors.
Molecular Therapy - Methods and Clinical Development
, 27
pp. 96-108.
10.1016/j.omtm.2022.09.005.
|
|
Garcia-Perez, L;
Van Eggermond, M;
Van Roon, L;
Vloemans, SA;
Cordes, M;
Schambach, A;
Rothe, M;
... Pike-Overzet, K; + view all
(2020)
Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCID.
Molecular Therapy: Methods & Clinical Development
, 17
pp. 666-682.
10.1016/j.omtm.2020.03.016.
|
|
|
García-Ruiz, Sonia;
Gustavsson, Emil K;
Zhang, David;
Reynolds, Regina H;
Chen, Zhongbo;
Fairbrother-Browne, Aine;
Gil-Martínez, Ana Luisa;
... Ryten, Mina; + view all
(2022)
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Research
10.1093/nar/gkac1056.
(In press).
|
|
García-Ruiz, S;
Gil-Martínez, AL;
Cisterna, A;
Jurado-Ruiz, F;
Reynolds, RH;
NABEC (North America Brain Expression Consortium), .;
Cookson, MR;
... Botía, JA; + view all
(2021)
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
Frontiers in Gentics
, 12
, Article 630187. 10.3389/fgene.2021.630187.
|
|
|
Gardner, Oliver FW;
Agabalyan, Natacha;
Weil, Ben;
Ali, Mohammed HI;
Lowdell, Mark W;
Bulstrode, Neil W;
Ferretti, Patrizia;
(2023)
Human platelet lysate enhances proliferation but not chondrogenic differentiation of pediatric mesenchymal progenitors.
Cytotherapy
, 25
(3)
pp. 286-297.
10.1016/j.jcyt.2022.11.007.
|
|
Gardner, M;
Lightman, S;
Kuh, D;
Comijs, H;
Deeg, D;
Gallacher, J;
Geoffroy, M-C;
... Ben-Shlomo, Y; + view all
(2019)
Dysregulation of the hypothalamic pituitary adrenal (HPA) axis and cognitive capability at older ages: individual participant meta-analysis of five cohorts.
Scientific Reports
, 9
(1)
, Article 4555. 10.1038/s41598-019-40566-x.
|
|
|
Garone, C;
Taylor, RW;
Nascimento, A;
Poulton, J;
Fratter, C;
Dominguez-Gonzalez, C;
Evans, JC;
... Hirano, M; + view all
(2018)
Retrospective natural history of thymidine kinase 2 deficiency.
Journal of Medical Genetics
, 55
(8)
pp. 515-521.
10.1136/jmedgenet-2017-105012.
|
|
Garriboli, Massimo;
Deguchi, Koichi;
Totonelli, Giorgia;
Georgiades, Fanourios;
Urbani, Luca;
Ghionzoli, Marco;
Burns, Alan J;
... De Coppi, Paolo; + view all
(2022)
Development of a porcine acellular bladder matrix for tissue-engineered bladder reconstruction.
Pediatric Surgery International
10.1007/s00383-022-05094-2.
(In press).
|
|
Gärtner, K;
Domínguez-Rodríguez, S;
Heaney, J;
Gkouleli, T;
Grant, P;
Dorgham, K;
Sauce, D;
... EPIICAL consortium; + view all
(2024)
Low unspliced cell-associated HIV RNA in early treated adolescents living with HIV on long suppressive ART.
Frontiers in Immunology
, 15
, Article 1334236. 10.3389/fimmu.2024.1334236.
|
|
Gartner, Kathleen;
Meleke, Harry;
Kamdolozi, Mercy;
Chaima, David;
Samikwa, Lyson;
Paynter, Mary;
Nyang'Wa, Maggie Nyirenda;
... Alber, Dagmar G; + view all
(2022)
A fast extraction-free isothermal LAMP assay for detection of SARS-CoV-2 with potential use in resource-limited settings.
Virology Journal
, 19
(1)
, Article 77. 10.1186/s12985-022-01800-7.
|
|
Gassas, A;
Sivaprakasam, P;
Cummins, M;
Breslin, P;
Patrick, K;
Slatter, M;
Skinner, R;
... Amrolia, P; + view all
(2018)
High transplant-related mortality associated with haematopoietic stem cell transplantation for paediatric therapy-related acute myeloid leukaemia (t-AML). A study on behalf of the United Kingdom Paediatric Blood and Bone Marrow Transplant Group.
Bone Marrow Transplantation
, 53
(9)
pp. 1165-1169.
10.1038/s41409-018-0157-x.
|
|
|
Gastine, S;
Obiero, C;
Kane, Z;
Williams, P;
Readman, J;
Murunga, S;
Thitiri, J;
... Standing, JF; + view all
(2022)
Simultaneous pharmacokinetic/pharmacodynamic (PKPD) assessment of ampicillin and gentamicin in the treatment of neonatal sepsis.
Journal of Antimicrobial Chemotherapy
, 77
(2)
pp. 448-456.
10.1093/jac/dkab413.
|
|
|
Gastine, Silke;
Morse, James D;
Leung, Miriam Ty;
Wong, Ian Chi Kei;
Howard, Richard F;
Harrop, Emily;
Liossi, Christina;
... Anderson, Brian J; + view all
(2022)
Diamorphine pharmacokinetics and conversion factor estimates for intranasal diamorphine in paediatric breakthrough pain:systematic review.
BMJ Supportive and Palliative Care
10.1136/bmjspcare-2021-003461.
(In press).
|
|
|
Gastine, S;
Hsia, Y;
Clements, M;
Barker, CI;
Bielicki, J;
Hartmann, C;
Sharland, M;
(2021)
Variation in target attainment of β-lactam antibiotic dosing between international pediatric formularies.
Clinical Pharmacology & Therapeutics
, 109
(4)
pp. 958-970.
10.1002/cpt.2180.
|
|
|
Gates, Lily;
Mistry, Talisa;
Ogunbiyi, Olumide;
Kite, Kerry-Anne;
Klein, Nigel J;
Sebire, Neil J;
Alber, Dagmar G;
(2023)
Identification of bacterial pathogens in sudden unexpected death in infancy and childhood using 16S rRNA gene sequencing.
Frontiers in Microbiology
, 14
, Article 1171670. 10.3389/fmicb.2023.1171670.
|
|
Gates, S;
Melkuhn, E;
Morrow, B;
Ntoumenopoulos, G;
Shannon, H;
Shkurka, E;
(2021)
Refractory Atelectasis and Response to Chest Physiotherapy.
Journal of Pediatric Intensive Care
10.1055/s-0041-1728639.
(In press).
|
|
Gates, L;
Klein, NJ;
Sebire, NJ;
Alber, DG;
(2021)
Characterising Post-mortem Bacterial Translocation Under Clinical Conditions Using 16S rRNA Gene Sequencing in Two Animal Models.
Frontiers in Microbiology
, 12
, Article 649312. 10.3389/fmicb.2021.649312.
|
|
|
George, SL;
Izquierdo, E;
Campbell, J;
Koutroumanidou, E;
Proszek, P;
Jamal, S;
Hughes, D;
... Chesler, L; + view all
(2019)
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
European Journal of Cancer
10.1016/j.ejca.2019.07.027.
|
|
|
Georgiadis, C;
Preece, R;
Nickolay, L;
Etuk, A;
Petrova, A;
Ladon, D;
Danyi, A;
... Qasim, W; + view all
(2018)
Long Terminal Repeat CRISPR-CAR-Coupled "Universal" T Cells Mediate Potent Anti-leukemic Effects.
Molecular Therapy
, 26
(5)
pp. 1215-1227.
10.1016/j.ymthe.2018.02.025.
|
|
Georgiadis, C;
Rasaiyaah, J;
Gkazi, SA;
Preece, R;
Etuk, A;
Christi, A;
Qasim, W;
(2021)
Base-edited CAR T cells for combinational therapy against T cell malignancies.
Leukemia
10.1038/s41375-021-01282-6.
(In press).
|
|
|
Georgiou, M;
McAnena, L;
Michaelides, M;
Reddy, MA;
(2020)
Incidental unilateral idiopathic maculopathy in children.
Journal of American Association for Pediatric Ophthalmology and Strabismus
, 24
(6)
357.e1-357.e6.
10.1016/j.jaapos.2020.08.009.
|
|
Gerasimidis, K;
Bronsky, J;
Catchpole, A;
Embleton, N;
Fewtrell, M;
Hojsak, I;
Indrio, F;
... ESPGHAN Committee on Nutrition; + view all
(2020)
Assessment and Interpretation of Vitamin and Trace Element Status in Sick Children: A Position Paper From the European Society for Paediatric Gastroenterology Hepatology, and Nutrition Committee on Nutrition.
Journal of Pediatric Gastroenterology and Nutrition
, 70
(6)
pp. 873-881.
10.1097/MPG.0000000000002688.
|
|
Gerli, MFM;
Moyle, LA;
Benedetti, S;
Ferrari, G;
Ucuncu, E;
Ragazzi, M;
Constantinou, C;
... Tedesco, FS; + view all
(2019)
Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells.
Stem Cell Reports
, 12
(3)
pp. 461-473.
10.1016/j.stemcr.2019.01.007.
|
|
Ghorashian, S;
Amrolia, P;
Veys, P;
(2018)
Open access? Widening access to chimeric antigen receptor (CAR) therapy for ALL.
Experimental Hematology
, 66
pp. 5-16.
10.1016/j.exphem.2018.07.002.
|
|
Ghorashian, S;
Kramer, AM;
Onuoha, S;
Wright, G;
Bartram, J;
Richardson, R;
Albon, SJ;
... Amrolia, PJ; + view all
(2019)
Enhanced CAR T cell expansion and prolonged persistence in pediatric patients with ALL treated with a low-affinity CD19 CAR.
Nature Medicine
, 25
pp. 1408-1414.
10.1038/s41591-019-0549-5.
|
|
Ghosh, S;
Köstel Bal, S;
Edwards, ESJ;
Pillay, B;
Jimenez-Heredia, R;
Rao, G;
Erol Cipe, F;
... Boztug, K; + view all
(2020)
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood
, 136
(23)
pp. 2638-2655.
10.1182/blood.2020006738.
|
|
Giani, T;
Smith, EM;
Al-Abadi, E;
Armon, K;
Bailey, K;
Ciurtin, C;
Davidson, J;
... UK JSLE Cohort Study, .; + view all
(2021)
Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: Data from the UK Juvenile-onset systemic lupus erythematosus cohort study.
Lupus
10.1177/09612033211045050.
(In press).
|
|
|
Giardino, Giuliana;
Sharapova, Svetlana O;
Ciznar, Peter;
Dhalla, Fatima;
Maragliano, Luca;
Devi, Akella Radha Rama;
Islamoglu, Candan;
... Pignata, Claudio; + view all
(2021)
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
Journal of Clinical Immunology
, 41
(4)
pp. 756-768.
10.1007/s10875-021-00967-y.
|
|
Gibb, D;
(2021)
Plasticity of the Immune System in Children Following Treatment Interruption in HIV-1 Infection.
Frontiers in Immunology
, 12
, Article 643189. 10.3389/fimmu.2021.643189.
|
|
|
Gibson, F;
Kumpunen, S;
Bryan, G;
Forbat, L;
(2018)
Insights From Parents of a Child With Leukaemia and Healthcare Professionals About Sharing Illness and Treatment Information: a Qualitative Research Study.
International Journal of Nursing Studies
, 83
pp. 91-102.
10.1016/j.ijnurstu.2018.04.008.
|
|
|
Gifford, Alison;
Griffiths, Michael J;
Rodie, Philippa;
Wilmshurst, Jo;
Ball, Jessica;
Dunkley, Colin;
McLellan, Ailsa;
... Kirkpatrick, Martin; + view all
(2024)
Reducing epilepsy diagnostic and treatment gaps: Standardized paediatric epilepsy training courses for health.
Developmental Medicine & Child Neurology
10.1111/dmcn.15864.
(In press).
|
|
|
Gil, E;
Roy, S;
Best, T;
Hatcher, J;
Breuer, J;
(2023)
Increasing rhinovirus prevalence in paediatric intensive care patients since the SARS-CoV2 pandemic.
Journal of Clinical Virology
, 166
, Article 105555. 10.1016/j.jcv.2023.105555.
|
|
Gilbert, R;
Brown, M;
Rainford, N;
Donohue, C;
Fraser, C;
Sinha, A;
Dorling, J;
... PREVAIL trial team; + view all
(2019)
Antimicrobial-impregnated central venous catheters for prevention of neonatal bloodstream infection (PREVAIL): an open-label, parallel-group, pragmatic, randomised controlled trial.
The Lancet Child & Adolescent Health
, 3
(6)
pp. 381-390.
10.1016/S2352-4642(19)30114-2.
|
|
|
Gilhooley, Michael James;
Raoof, Naz;
Yu-Wai-Man, Patrick;
Moosajee, Mariya;
(2024)
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.
Genes
, 15
(2)
, Article 188. 10.3390/genes15020188.
|
|
Gilhooley, MJ;
Hickey, D;
Lindner, M;
Palumaa, T;
Hughes, S;
Peirson, SN;
MacLaren, RE;
(2021)
ON-bipolar cell gene expression during retinal degeneration: Implications for optogenetic visual restoration.
Experimental Eye Research
, Article 108553. 10.1016/j.exer.2021.108553.
(In press).
|
|
Gilhooley, MJ;
Owen, N;
Moosajee, M;
Man, PYW;
(2021)
From Transcriptomics to Treatment in Inherited Optic Neuropathies.
Genes
, 12
(2)
, Article 147. 10.3390/genes12020147.
|
|
|
Gill, JS;
Theofylaktopoulos, V;
Mitsios, A;
Houston, S;
Hagag, AM;
Dubis, AM;
Moosajee, M;
(2022)
Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.
International Journal of Molecular Sciences
, 23
(8)
, Article 4198. 10.3390/ijms23084198.
|
|
Gill, SK;
Rose, HEL;
Wilson, M;
Rodriguez Gutierrez, D;
Worthington, L;
Davies, NP;
MacPherson, L;
... Peet, AC; + view all
(2024)
Characterisation of paediatric brain tumours by their MRS metabolite profiles.
NMR in Biomedicine
10.1002/nbm.5101.
(In press).
|
|
|
Gill, JS;
Moosajee, M;
Dubis, AM;
(2019)
Cellular imaging of inherited retinal diseases using adaptive optics.
Eye
, 33
pp. 1683-1698.
10.1038/s41433-019-0474-3.
|
|
Gilleece, Y;
Tariq, S;
Bamford, A;
Bhagani, S;
Byrne, L;
Clarke, E;
Clayden, P;
... Wright, A; + view all
(2019)
British HIV Association guidelines for the management of HIV in pregnancy and postpartum 2018.
HIV Medicine
, 20
(S3)
S2-S85.
10.1111/hiv.12720.
|
|
Gimeno, JR;
Elliott, PM;
Tavazzi, L;
Tendera, M;
Kaski, JP;
Laroche, C;
Barriales-Villa, R;
... EORP Cardiomyopathy Registry Investigators group, .; + view all
(2021)
Prospective follow-up in various subtypes of cardiomyopathies: Insights from the ESC EORP Cardiomyopathy Registry.
European Heart Journal - Quality of Care and Clinical Outcomes
, 7
(2)
pp. 134-142.
10.1093/ehjqcco/qcaa075.
|
|
Gimeno, Laura;
Brown, Katherine;
Harron, Katie;
Peppa, Maria;
Gilbert, Ruth;
Blackburn, Ruth;
(2023)
Trends in survival of children with severe congenital heart defects by gestational age at birth: A population‐based study using administrative hospital data for England.
Paediatric and Perinatal Epidemiology
10.1111/ppe.12959.
(In press).
|
|
Gimpel, C;
Bergmann, C;
Bockenhauer, D;
Breysem, L;
Cadnapaphornchai, MA;
Cetiner, M;
Dudley, J;
... Schaefer, F; + view all
(2019)
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Nature Reviews Nephrology
10.1038/s41581-019-0155-2.
(In press).
|
|
|
Giobbe, GG;
Crowley, C;
Luni, C;
Campinoti, S;
Khedr, M;
Kretzschmar, K;
De Santis, MM;
... De Coppi, P; + view all
(2019)
Extracellular matrix hydrogel derived from decellularized tissues enables endodermal organoid culture.
Nature Communications
, 10
(1)
, Article 5658. 10.1038/s41467-019-13605-4.
|
|
|
Giri, D;
Bockenhauer, D;
Deshpande, C;
Achermann, JC;
Taylor, NF;
Rumsby, G;
Morgan, H;
... Ajzensztejn, M; + view all
(2020)
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Hormone Research in Paediatrics
10.1159/000507577.
(In press).
|
|
|
Gissen, P;
Specchio, N;
Olaye, A;
Jain, M;
Butt, T;
Ghosh, W;
Ruban-Fell, B;
... Schulz, A; + view all
(2021)
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 217. 10.1186/s13023-021-01829-x.
|
|
|
Gitsels, LA;
Cortina-Borja, M;
Rahi, JS;
(2020)
Is amblyopia associated with school readiness and cognitive performance during early schooling? Findings from the Millennium Cohort Study.
PLoS ONE
, 15
(6)
, Article e0234414. 10.1371/journal.pone.0234414.
|
|
|
Giuffrida, P;
Curti, M;
Al-Akkad, W;
Biel, C;
Crowley, C;
Frenguelli, L;
Telese, A;
... Mazza, G; + view all
(2019)
Decellularized Human Gut as a Natural 3D Platform for Research in Intestinal Fibrosis.
Inflammatory Bowel Diseases
, 25
(11)
pp. 1740-1750.
10.1093/ibd/izz115.
|
|
Gkazi, AS;
Margetts, BK;
Attenborough, T;
Mhaldien, L;
Standing, JF;
Oakes, T;
Heather, JM;
... Adams, SP; + view all
(2018)
Clinical T Cell Receptor Repertoire Deep Sequencing and Analysis: An Application to Monitor Immune Reconstitution Following Cord Blood Transplantation.
Frontiers in Immunology
, 9
, Article 2547. 10.3389/fimmu.2018.02547.
|
|
|
Global Retinoblastoma Study Group;
Fabian, ID;
Abdallah, E;
Abdullahi, SU;
Abdulqader, RA;
Adamou Boubacar, S;
Ademola-Popoola, DS;
... Bowman, R; + view all
(2020)
Global Retinoblastoma Presentation and Analysis by National Income Level.
JAMA Oncology
, 6
(5)
pp. 685-695.
10.1001/jamaoncol.2019.6716.
|
|
|
Globalsurg, C;
Drake, TM;
Camilleri-Brennan, J;
Tabiri, S;
Fergusson, SJ;
Spence, R;
Fitzgerald, JEF;
... Luiz, JS; + view all
(2018)
Laparoscopy in management of appendicitis in high-, middle-, and low-income countries: a multicenter, prospective, cohort study.
Surgical Endoscopy and Other Interventional Techniques
, 32
(8)
pp. 3450-3466.
10.1007/s00464-018-6064-9.
|
|
|
Goergen, SK;
Alibrahim, E;
Govender, N;
Stanislavsky, A;
Abel, C;
Prystupa, S;
Collett, J;
... Arthurs, OJ; + view all
(2019)
Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI.
Neuroradiology
10.1007/s00234-019-02218-9.
(In press).
|
|
|
Gogou, Maria;
Pujar, Suresh;
Nemani, Tarishi;
Chiang, Chunyi;
Simpson, Zoe;
Hardy, Isobel;
Schoeler, Natasha;
... Eltze, Christin; + view all
(2023)
Antiseizure medication reduction and withdrawal in children with drug-resistant epilepsy after starting the ketogenic diet.
Developmental Medicine & Child Neurology
, 65
(3)
pp. 424-430.
10.1111/dmcn.15377.
|
|
Goldacre, B;
Bardsley, M;
Benson, T;
Cheema, K;
Chinn, R;
Coughlan, E;
Dougan, S;
... Morley, J; + view all
(2020)
Bringing NHS data analysis into the 21st century.
Journal of the Royal Society of Medicine
10.1177/0141076820930666.
(In press).
|
|
|
Goldblatt, D;
Fiore-Gartland, A;
Johnson, M;
Hunt, A;
Bengt, C;
Zavadska, D;
Snipe, HD;
... Ambrosino, D; + view all
(2021)
Towards a population-based threshold of protection for COVID-19 vaccines.
Vaccine
10.1016/j.vaccine.2021.12.006.
(In press).
|
|
|
Goldblatt, D;
Johnson, M;
Falup-Pecurariu, O;
Ivaskeviciene, I;
Spoulou, V;
Tamm, E;
Wagner, M;
... Zavadska, D; + view all
(2021)
Cross Sectional Prevalence of SARS-CoV-2 antibodies in Health Care Workers in Paediatric Facilities in Eight Countries.
Journal of Hospital Infection
10.1016/j.jhin.2020.12.019.
(In press).
|
|
|
Goldstein, A;
Rahman, S;
(2020)
Seeking impact: global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.
Journal of Inherited Metabolic Disease
10.1002/jimd.12320.
(In press).
|
|
|
Golwala, Zainab M;
Bhat, Nikita Gireesh;
Xu-Bayford, Jinhua;
Stankova, Tanja;
Adams, Stuart;
Morris, Emma C;
Qasim, Waseem;
... Elfeky, Reem; + view all
(2023)
Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity.
Journal of Clinical Immunology
10.1007/s10875-023-01465-z.
|
|
Goodarzi, Mohammad R;
Breakey, William F;
van de Lande, Lara S;
Borghi, Alessandro;
O'Hara, Justine;
Ong, Juling;
James, Greg;
... Jeelani, Nu Owase; + view all
(2022)
Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?
Journal of Craniofacial Surgery
, 34
(3)
pp. 910-913.
10.1097/SCS.0000000000009126.
|
|
Goodman, LD;
Cope, H;
Nil, Z;
Ravenscroft, TA;
Charng, WL;
Lu, S;
Tien, AC;
... Tan, QKG; + view all
(2021)
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American Journal of Human Genetics
, 108
(9)
pp. 1669-1691.
10.1016/j.ajhg.2021.06.019.
|
|
Gopalan, V;
Rennie, A;
Robertson, F;
Kanagarajah, L;
Toolis, C;
Bhate, S;
Ganesan, V;
(2018)
Presentation, course, and outcome of postneonatal presentations of vein of Galen malformation: a large, single-institution case series.
Developmental Medicine & Child Neurology
, 60
(4)
pp. 424-429.
10.1111/dmcn.13676.
|
|
Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
|
|
Gorny, M;
Blackstock, S;
Bhaskaran, A;
Layther, I;
Qoba, M;
Vassar, C;
Ellis, J;
... Hudson, LD; + view all
(2021)
Working together better for mental health in children and young people during a pandemic: experiences from North Central London during the first wave of COVID-19.
BMJ Paediatrics Open
, 5
(1)
, Article e001116. 10.1136/bmjpo-2021-001116.
|
|
|
Gould, Doug W;
Peters, Mark J;
(2024)
The Oxy-PICU Conservative Versus Liberal Oxygenation Target Trial in Critically Ill Children-A Changed World or a "So What" Result?
Pediatric Critical Care Medicine
, 25
(7)
e343-e346.
10.1097/PCC.0000000000003518.
|
|
Govers, LP;
Toka, HR;
Hariri, A;
Walsh, SB;
Bockenhauer, D;
(2020)
Mitochondrial DNA mutations in renal disease: an overview.
Pediatric Nephrology
10.1007/s00467-019-04404-6.
(In press).
|
|
|
Grabovska, Y;
Mackay, A;
O'Hare, P;
Crosier, S;
Finetti, M;
Schwalbe, EC;
Pickles, JC;
... Williamson, D; + view all
(2020)
Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity.
Nature Communications
, 11
, Article 4324. 10.1038/s41467-020-18070-y.
|
|
|
Graf, N;
Bergeron, C;
Brok, J;
de Camargo, B;
Chowdhury, T;
Furtwängler, R;
Gessler, M;
... van den Heuvel-Eibrink, MM; + view all
(2021)
Fifty years of clinical and research studies for childhood renal tumors within the International Society of Pediatric Oncology (SIOP).
Annals of Oncology
10.1016/j.annonc.2021.08.1749.
(In press).
|
|
|
Granger, Emily;
Davies, Gwyneth;
Keogh, Ruth H;
(2023)
Emulated trial investigating effects of multiple treatments: estimating combined effects of mucoactive nebulisers in cystic fibrosis using registry data.
Thorax
10.1136/thorax-2023-220031.
(In press).
|
|
Greenan-Barrett, J;
Doolan, G;
Shah, D;
Virdee, S;
Robinson, G;
Choida, V;
Gak, N;
... Ciurtin, C; + view all
(2021)
Biomarkers Associated with Organ-Specific Involvement in Juvenile Systemic Lupus Erythematosus.
International Journal of Molecular Sciences
, 22
(14)
, Article 7619. 10.3390/ijms22147619.
|
|
Greenfield, K;
Holley, S;
Schoth, DE;
Harrop, E;
Howard, RF;
Bayliss, J;
Brook, L;
... Liossi, C; + view all
(2020)
A mixed-methods systematic review and meta-analysis of barriers and facilitators to paediatric symptom management at end of life.
Palliative Medicine
, 34
(6)
pp. 689-707.
10.1177/0269216320907065.
|
|
Greenfield, K;
Holley, S;
Schoth, DE;
Bayliss, J;
Anderson, A-K;
Jassal, S;
Rajapakse, D;
... Liossi, C; + view all
(2020)
A protocol for a systematic review and meta-analysis to identify measures of breakthrough pain and evaluate their psychometric properties.
BMJ Open
, 10
(3)
, Article e035541. 10.1136/bmjopen-2019-035541.
|
|
|
Greenfield, K;
Holley, S;
Schoth, DE;
Harrop, E;
Howard, R;
Bayliss, J;
Brook, L;
... Liossi, C; + view all
(2019)
Barriers and facilitators experienced by patients, carers and healthcare professionals when managing symptoms in infants, children and young people at end-of-life: a mixed methods systematic review protocol.
BMJ Open
, 9
(7)
, Article e030566. 10.1136/bmjopen-2019-030566.
|
|
|
Gregory, LC;
Ferreira, CB;
Young-Baird, SK;
Williams, HJ;
Harakalova, M;
van Haaften, G;
Rahman, SA;
... Dattani, MT; + view all
(2019)
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
EBioMedicine
, 42
pp. 470-480.
10.1016/j.ebiom.2019.03.013.
|
|
Gregory, Louise C;
Cionna, Cecilia;
Cerbone, Manuela;
GOSgene;
Dattani, Mehul T;
(2023)
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
Genetics in Medicine
, 25
(9)
, Article 100881. 10.1016/j.gim.2023.100881.
|
|
Gregory, A;
Lotia, M;
Jeong, SY;
Fox, R;
Zhen, D;
Sanford, L;
Hamada, J;
... Hayflick, SJ; + view all
(2019)
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Molecular Genetics & Genomic Medicine
, Article e736. 10.1002/mgg3.736.
(In press).
|
|
|
Gregson, Rachael K;
Peters, Mark J;
(2019)
Appropriate CPR techniques for carers of infants outside of hospital.
Archives of Disease in Childhood
, 104
(6)
pp. 511-512.
10.1136/archdischild-2018-315756.
|
|
|
Gregson, RK;
Skellett, S;
Ray, S;
Peters, MJ;
(2018)
Hard and fast, but within limits: is there a trade-off of stroke volume index and diastolic pressure in paediatric resuscitation?
[Letter].
Intensive Care Medicine
, 44
(2)
pp. 254-256.
10.1007/s00134-017-4949-z.
|
|
Griffen, Corbin;
Schoeler, Natasha E;
Browne, Robert;
Cameron, Tracy;
Kirkpatrick, Martin;
Thowfeek, Seema;
Munn, Judith;
... Stratton, Rebecca J; + view all
(2024)
Tolerance, adherence, and acceptability of a ketogenic 2.5:1 ratio, nutritionally complete, medium chain triglyceride-containing liquid feed in children and adults with drug-resistant epilepsy following a ketogenic diet.
Epilepsia Open
10.1002/epi4.12910.
(In press).
|
|
Grill, J;
Massimino, M;
Bouffet, E;
Azizi, AA;
McCowage, G;
Cañete, A;
Saran, F;
... Vassal, G; + view all
(2018)
Phase II, Open-Label, Randomized, Multicenter Trial (HERBY) of Bevacizumab in Pediatric Patients With Newly Diagnosed High-Grade Glioma.
Journal of Clinical Oncology
10.1200/JCO.2017.76.0611.
(In press).
|
|
Grillo, Lizzie;
Russell, Anne-Marie;
Shannon, Harriet;
Lewis, Adam;
(2023)
Physiotherapy assessment of breathing pattern disorder: a qualitative evaluation.
BMJ Open Respiratory Research
, 10
(1)
, Article e001395. 10.1136/bmjresp-2022-001395.
|
|
Groenendijk, A;
van Tinteren, H;
Jiang, Y;
de Krijger, RR;
Vujanic, GM;
Godzinski, J;
Rübe, C;
... Mavinkurve-Groothuis, AMC; + view all
(2022)
Outcome of SIOP patients with low- or intermediate-risk Wilms tumour relapsing after initial vincristine and actinomycin-D therapy only − the SIOP 93–01 and 2001 protocols.
European Journal of Cancer
, 163
pp. 88-97.
10.1016/j.ejca.2021.12.014.
|
|
Gualtieri, A;
Kyprianou, N;
Gregory, LC;
Vignola, ML;
Nicholson, JG;
Tan, R;
Inoue, S-I;
... Gaston-Massuet, C; + view all
(2021)
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Nature Communications
, 12
, Article 2028. 10.1038/s41467-021-21712-4.
|
|
|
Guemes, M;
Rahman, SA;
Kapoor, RR;
Flanagan, S;
Houghton, JAL;
Misra, S;
Oliver, N;
... Shah, P; + view all
(2020)
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Reviews in Endocrine and Metabolic Disorders
10.1007/s11154-020-09548-7.
|
|
|
Guillot, P;
Vlahova, F;
Hawkins, K;
Ranzoni, AM;
Hau, KL;
Sagar, R;
De Coppi, P;
... Adjaye, J; + view all
Human mid-trimester amniotic fluid (stem) cells lack expression of the pluripotency marker OCT4A.
Scientific Reports
, 9
, Article 8126. 10.1038/s41598-019-44572-x.
|
|
Guja, A;
Morrow Jasper, M;
Adnan, M;
Roxana, G;
Roberta, B;
Eugenio, M;
Reilly, MR;
... Yousry, TA; + view all
(2022)
Muscle "islands": an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness.
Neuromuscular Disorders
, 32
(2)
pp. 142-149.
10.1016/j.nmd.2021.11.003.
|
|
Gupta, A;
Sidler, M;
van Poll, D;
Patel, N;
Eaton, S;
Muthialu, N;
De Coppi, P;
(2020)
Thoracic versus abdominal approach to correct diaphragmatic eventration in children.
Journal of Pediatric Surgery
, 55
(2)
pp. 245-248.
10.1016/j.jpedsurg.2019.10.040.
|
|
Gurung, S;
Timmermand, OV;
Perocheau, D;
Gil-Martinez, AL;
Minnion, M;
Touramanidou, L;
Fang, S;
... Baruteau, J; + view all
(2024)
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Science Translational Medicine
, 16
(729)
, Article eadh1334. 10.1126/scitranslmed.adh1334.
|
|
Gurung, S;
Perocheau, D;
Touramanidou, L;
Baruteau, J;
(2021)
The exosome journey: from biogenesis to uptake and intracellular signalling.
Cell Communication and Signaling
, 19
(1)
, Article 47. 10.1186/s12964-021-00730-1.
|
|
|
Gutman, T;
Hanson, C;
Bernays, S;
Craig, J;
Sinha, A;
Dart, A;
Eddy, A;
... Tong, A; + view all
(2018)
Child and parental perspectives on communication and decision-making in pediatric chronic kidney disease: a focus group study.
American Journal of Kidney Diseases
, 72
(4)
pp. 547-559.
10.1053/j.ajkd.2018.05.005.
|
H
|
Hacohen, Y;
Eshaghi, A;
(2021)
Multiple Sclerosis in Children and Adults: Does Age Matter?
Neurology
, 97
(20)
pp. 929-930.
10.1212/WNL.0000000000012866.
|
|
Hacohen, Y;
Kerr, W;
Waters, P;
(2021)
Intrathecal Production of MOG-IgG: Highlighting the Need for CSF Testing in Clinical Practice.
Neurology
, 97
(1)
pp. 12-13.
10.1212/WNL.0000000000012177.
|
|
Hacohen, Yael;
Ciccarelli, Olga;
(2022)
New Evidence for EBV Infection as a Cause of Multiple Sclerosis.
Neurology
, 98
(15)
pp. 605-606.
10.1212/WNL.0000000000200243.
|
|
Hacohen, Y;
Banwell, B;
(2019)
Treatment Approaches for MOG-Ab-Associated Demyelination in Children.
[Review].
Current Treatment Options in Neurology
, 21
, Article 2. 10.1007/s11940-019-0541-x.
|
|
|
Hacohen, Y;
Banwell, B;
Ciccarelli, O;
(2020)
What does first-line therapy mean for paediatric multiple sclerosis in the current era?
Multiple Sclerosis Journal
10.1177/1352458520937644.
(In press).
|
|
Hacohen, Y;
Brownlee, W;
Mankad, K;
Chong, WK;
Thompson, AJ;
Lim, M;
Wassmer, E;
... Ciccarelli, O; + view all
(2019)
Improved performance of the 2017 McDonald criteria for diagnosis of multiple sclerosis in children with a real-life cohort.
Multiple Sclerosis Journal
10.1177/1352458519863781.
(In press).
|
|
Hacohen, Y;
Brownlee, WJ;
(2018)
Clinical commentary on 'Late-onset neutropenia and neurological relapse during long-term rituximab therapy in MOG antibody spectrum disorder'.
Multiple Sclerosis Journal
, 24
(12)
p. 1648.
10.1177/1352458518775245.
|
|
Hacohen, Y;
Marignier, R;
(2020)
Myelin oligodendrocyte glycoprotein antibodies associated disease: how important are B cells?
Developmental Medicine & Child Neurology
, 62
(3)
p. 273.
10.1111/dmcn.14370.
|
|
Hacohen, Y;
Palace, J;
(2018)
Time to separate MOG-Ab-associated disease from AQP4-Ab-positive neuromyelitis optica spectrum disorder.
Neurology
, 90
(21)
pp. 947-948.
10.1212/WNL.0000000000005619.
|
|
Hacohen, Y;
Rossor, T;
Mankad, K;
Chong, K;
Lux, A;
Wassmer, E;
Lim, M;
... Hemingway, C; + view all
(2018)
'Leukodystrophy‐like' phenotype in children with myelin oligodendrocyte glycoprotein antibody‐associated disease.
Developmental Medicine and Child Neurology
, 60
(4)
pp. 417-423.
10.1111/dmcn.13649.
|
|
Hacohen, Y;
Vincent, A;
(2018)
Autoimmune neurological disorders-does the age matter?
European Journal of Paediatric Neurology
, 22
(3)
pp. 341-343.
10.1016/j.ejpn.2018.01.025.
|
|
Hacohen, Y;
Wong, YY;
Lechner, C;
Jurynczyk, M;
Wright, S;
Konuskan, B;
Kalser, J;
... Lim, M; + view all
(2018)
Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease.
JAMA Neurology
, 75
(4)
pp. 478-487.
10.1001/jamaneurol.2017.4601.
|
|
Hadji-Michael, M;
McAllister, E;
Reilly, C;
Heyman, I;
Bennett, S;
(2019)
Alexithymia in children with Medically Unexplained Symptoms: A systematic review.
Journal of Psychosomatic Research
, 123
, Article 109736. 10.1016/j.jpsychores.2019.109736.
|
|
Haffner, D;
Emma, F;
Eastwood, DM;
Biosse Duplan, M;
Bacchetta, J;
Schnabel, D;
Wicart, P;
... Linglart, A; + view all
(2019)
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Nature Reviews Nephrology
, 15
pp. 435-455.
10.1038/s41581-019-0152-5.
|
|
|
Hagag, AM;
Mitsios, A;
Narayan, A;
Abbouda, A;
Webster, AR;
Dubis, AM;
Moosajee, M;
(2020)
Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.
Eye
10.1038/s41433-020-0974-1.
(In press).
|
|
|
Hagemann, Cathleen;
Bailey, Matthew CD;
Carraro, Eugenia;
Stankevich, Ksenia S;
Lionello, Valentina Maria;
Khokhar, Noreen;
Suklai, Pacharaporn;
... Serio, Andrea; + view all
(2024)
Low-cost, versatile, and highly reproducible microfabrication pipeline to generate 3D-printed customised cell culture devices with complex designs.
PLoS Biol
, 22
(3)
, Article e3002503. 10.1371/journal.pbio.3002503.
|
|
Hale, Andrew T;
Chari, Aswin;
Scott, Rod C;
Cross, J Helen;
Rozzelle, Curtis J;
Blount, Jeffrey P;
Tisdall, Martin M;
(2022)
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?
Brain
, 145
(11)
pp. 3755-3762.
10.1093/brain/awac275.
|
|
Hales, PW;
d'Arco, F;
Cooper, J;
Pfeuffer, J;
Hargrave, D;
Mankad, K;
Clark, C;
(2019)
Arterial spin labelling and diffusion-weighted imaging in paediatric brain tumours.
Neuroimage: Clinical
, 22
, Article 101696. 10.1016/j.nicl.2019.101696.
|
|
|
Hales, PW;
Smith, V;
Dhanoa-Hayre, D;
O'Hare, P;
Mankad, K;
d'Arco, F;
Cooper, J;
... Clark, C; + view all
(2018)
Delineation of the visual pathway in paediatric optic pathway glioma patients using probabilistic tractography, and correlations with visual acuity.
NeuroImage: Clinical
, 17
pp. 541-548.
10.1016/j.nicl.2017.10.010.
|
|
Halfpenny, R;
Stewart, A;
Carter, A;
Wyatt, M;
Jephson, C;
O'Dwyer, E;
Cavalli, L;
(2021)
Dysphonia and dysphagia consequences of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS).
International Journal of Pediatric Otorhinolaryngology
, 148
, Article 110823. 10.1016/j.ijporl.2021.110823.
|
|
Halfpenny, R;
Stewart, A;
Kelly, P;
Conway, E;
Smith, C;
(2021)
Dysphagia rehabilitation following acquired brain injury, including cerebral palsy, across the lifespan: a scoping review protocol.
Systematic Reviews
, 10
, Article 312. 10.1186/s13643-021-01861-9.
|
|
|
Halim, S;
Nugawela, M;
Chakravarthy, U;
Peto, T;
Madhusudhan, S;
Lenfestey, P;
Hamill, B;
... Sivaprasad, S; + view all
(2021)
Topographical Response of Retinal Neovascularization to Aflibercept or Panretinal Photocoagulation in Proliferative Diabetic Retinopathy Post Hoc Analysis of the CLARITY Randomized Clinical Trial.
JAMA Ophthalmology
10.1001/jamaophthalmol.2021.0108.
(In press).
|
|
|
Hall, Charlotte;
Marston, Louise;
Khan, Kareem;
Brown, Beverley J;
Sanderson, Charlotte;
Andren, Per;
Bennett, Sophie;
... Murphy, Tara; + view all
(2023)
The COVID-19 pandemic and its impact on tic symptoms in children and young people: a prospective cohort study.
Child Psychiatry & Human Development
, 54
pp. 1499-1509.
10.1007/s10578-022-01348-1.
(In press).
|
|
Hallik, M;
Ilmoja, M-L;
Standing, JF;
Soeorg, H;
Jalas, T;
Raidmäe, M;
Uibo, K;
... Metsvaht, T; + view all
(2020)
Population Pharmacokinetics and Pharmacodynamics of Dobutamine in Neonates on the First Days of Life.
British Journal of Clinical Pharmacology
, 86
(2)
pp. 318-328.
10.1111/bcp.14146.
|
|
|
Hammond, J;
Klapwijk, JE;
Riedijk, S;
Lou, S;
Ormond, KE;
Vogel, I;
Hui, L;
... Lewis, C; + view all
(2022)
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.
PLoS ONE
, 17
(1)
, Article e0261898. 10.1371/journal.pone.0261898.
|
|
|
Hammond, J;
Garner, I;
Hill, M;
Patch, C;
Hunter, A;
Searle, B;
Sanderson, SC;
(2021)
Animation or leaflet: Does it make a difference when educating young people about genome sequencing?
Patient Education and Counseling
10.1016/j.pec.2021.02.048.
(In press).
|
|
|
Hammond, J;
Klapwijk, JE;
Hill, M;
Lou, S;
Ormond, KE;
Diderich, KEM;
Riedijk, S;
(2020)
Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han’s taxonomy of uncertainty.
Journal of Genetic Counseling
10.1002/jgc4.1311.
(In press).
|
|
|
Handley, Sian;
Bowman, Richard;
Liasis, Alki;
Rahi, Jugnoo Sangeeta;
(2022)
Homonymous hemianopia in childhood: a systematic scoping review protocol.
BMJ Open Ophthalmology
, 7
(1)
, Article e001073. 10.1136/bmjophth-2022-001073.
|
|
Handley, SE;
Thompson, DA;
Prise, KL;
Liasis, A;
(2018)
ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment.
Documenta Ophthalmologica
, 136
(9)
pp. 223-227.
10.1007/s10633-018-9631-4.
|
|
|
Hann, KEJ;
Ali, N;
Gessler, S;
Fraser, LSM;
Side, L;
Waller, J;
Sanderson, SC;
... PROMISE study team; + view all
(2018)
Attitudes towards a programme of risk assessment and stratified management for ovarian cancer: a focus group study of UK South Asians' perspectives.
BMJ Open
, 8
(7)
, Article e021782. 10.1136/bmjopen-2018-021782.
|
|
|
Hanning, SM;
Walker, E;
Sutcliffe, E;
Tuleu, C;
with the London Generation R Young Persons Advisory Group, .;
(2020)
The rectal route of medicine administration for children: Let's get to the bottom of it!
European Journal of Pharmaceutics and Biopharmaceutics
, 157
pp. 25-27.
10.1016/j.ejpb.2020.09.015.
|
|
Hannon, Edward;
Pellegrini, Marco;
Scottoni, Federico;
Durkin, Natalie;
Shibuya, Soichi;
Lutman, Roberto;
Proctor, Toby J;
... De Coppi, Paolo; + view all
(2022)
Lessons learned from pre-clinical testing of xenogeneic decellularized esophagi in a rabbit model.
iScience
, 25
(10)
, Article 105174. 10.1016/j.isci.2022.105174.
|
|
Hanson, CS;
Craig, JC;
Logeman, C;
Sinha, A;
Dart, A;
Eddy, AA;
Guha, C;
... Tong, A; + view all
(2020)
Establishing core outcome domains in pediatric kidney disease: report of the Standardized Outcomes in Nephrology-Children and Adolescents (SONG-KIDS) consensus workshops.
Kidney International
, 98
(3)
pp. 553-565.
10.1016/j.kint.2020.05.054.
|
|
Hanson, CS;
Gutman, T;
Craig, JC;
Bernays, S;
Raman, G;
Zhang, Y;
James, LJ;
... Tong, A; + view all
(2019)
Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique Study.
American Journal of Kidney Diseases
, 74
(1)
pp. 82-94.
10.1053/j.ajkd.2018.12.040.
|
|
Hardelid, Pia;
Reeves, Rachel M;
(2023)
Estimating hospital admissions due to respiratory syncytial virus in children.
Lancet Infectious Diseases
, 23
(1)
p. 33.
10.1016/S1473-3099(22)00809-X.
|
|
Hardelid, P;
Kapetanstrataki, M;
Norman, L;
Fleming, SJ;
Lister, P;
Gilbert, R;
Parslow, RC;
(2018)
Impact of the introduction of a universal childhood influenza vaccination programme on influenza-related admissions to paediatric intensive care units in England.
BMJ Open Respiratory Research
, 5
(1)
, Article e000297. 10.1136/bmjresp-2018-000297.
|
|
|
Hardelid, P;
Kapetanstrataki, M;
Norman, L;
Fleming, SJ;
Lister, P;
Gilbert, R;
Parslow, RC;
(2018)
Characteristics and mortality risk of children with life-threatening influenza infection admitted to paediatric intensive care in England 2003–2015.
Respiratory Medicine
, 137
pp. 23-29.
10.1016/j.rmed.2018.02.012.
|
|
Harding, Philippa;
Gore, Sri;
Malka, Samantha;
Rajkumar, Jayashree;
Oluonye, Ngozi;
Moosajee, Mariya;
(2022)
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
British Journal of Ophthalmology
10.1136/bjo-2022-321991.
(In press).
|
|
Harding, E;
Hammond, J;
Chitty, LS;
Hill, M;
Lewis, C;
(2020)
Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.
Prenatal Diagnosis
, 40
(8)
pp. 1028-1039.
10.1002/pd.5729.
|
|
|
Harding, P;
Lima Cunha, D;
Méjécase, C;
Eintracht, J;
Toualbi, L;
Sarkar, H;
Moosajee, M;
(2021)
Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6.
Stem Cell Research
, 51
, Article 102184. 10.1016/j.scr.2021.102184.
|
|
|
Harding, P;
Moosajee, M;
(2019)
The Molecular Basis of Human Anophthalmia and Microphthalmia.
Journal of Developmental Biology
, 7
(3)
, Article 16. 10.3390/jdb7030016.
|
|
|
Harding, P;
Toms, M;
Schiff, E;
Owen, N;
Bell, S;
Lloyd, IC;
Moosajee, M;
(2021)
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
International Journal of Molecular Sciences
, 22
(4)
, Article 2190. 10.3390/ijms22042190.
|
|
|
Hargrave, DR;
Bouffet, E;
Tabori, U;
Broniscer, A;
Cohen, KJ;
Hansford, JR;
Geoerger, B;
... Kieran, MW; + view all
(2019)
Efficacy and Safety of Dabrafenib in Pediatric Patients with BRAF V600 Mutation-Positive Relapsed or Refractory Low-Grade Glioma: Results from a Phase I/IIa Study.
Clinical Cancer Research
, 25
(24)
pp. 7303-7311.
10.1158/1078-0432.CCR-19-2177.
|
|
Harjunmaa, U;
Doyle, R;
Järnstedt, J;
Kamiza, S;
Jorgensen, JM;
Stewart, CP;
Shaw, L;
... Ashorn, P; + view all
(2018)
Periapical infection may affect birth outcomes via systemic inflammation.
Oral Diseases
, 24
(5)
pp. 847-855.
10.1111/odi.12817.
|
|
Harkness, W;
(2018)
Presidential address 2017 William Harkness FRCS October 10th 2017 Denver, Co USA: 2017—annus mirabilis, a global view of neurosurgery for children.
Child's Nervous System
, 34
(10)
pp. 1817-1836.
10.1007/s00381-018-3931-6.
|
|
|
Harniess, PA;
Gibbs, D;
Bezemer, J;
Purna Basu, A;
(2021)
Parental engagement in early intervention for infants with cerebral palsy - A realist synthesis.
Child: Care, Health and Development
10.1111/cch.12916.
(In press).
|
|
Haroon, A;
Afaq, A;
Nuthakki, S;
Freeman, A;
Biassoni, L;
Fanti, S;
Beheshti, M;
... Bomanji, J; + view all
(2018)
Phenotypic appearances of prostate utilizing PET-MRI and PET-CT with Ga-68-PSMA, radiolabelled choline and Ga-68-DOTATATE.
[Review].
Nuclear Medicine Communications
, 39
(3)
pp. 196-204.
10.1097/MNM.0000000000000797.
|
|
Harrer, Philip;
Skorvanek, Matej;
Kittke, Volker;
Dzinovic, Ivana;
Borngraeber, Friederike;
Thomsen, Mirja;
Mandel, Vanessa;
... Zech, Michael; + view all
(2023)
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Movement Disorders
10.1002/mds.29562.
|
|
Harris, Holly A;
Micali, Nadia;
Moll, Henriette A;
van Berckelaer-Onnes, Ina;
Hillegers, Manon;
Jansen, Pauline W;
(2021)
The role of food selectivity in the association between child autistic traits and constipation.
International Journal of Eating Disorders
, 54
(6)
pp. 981-985.
10.1002/eat.23485.
|
|
Harris, S;
Braggins, H;
van Leeuwen, K;
Gilmour, K;
Buckland, MS;
Roos, D;
Lowe, DM;
(2018)
Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease.
The Journal of Allergy and Clinical Immunology: In Practice
, 6
(5)
1775-1777.e1.
10.1016/j.jaip.2018.01.017.
|
|
Harron, Katie L;
(2023)
Linking data to build a bigger picture of paediatric referral pathways.
Archives of Disease in Childhood
10.1136/archdischild-2022-324788.
(In press).
|
|
Harron, K;
Doidge, JC;
Goldstein, H;
(2020)
Assessing data linkage quality in cohort studies.
Annals of Human Biology
, 47
(2)
pp. 218-226.
10.1080/03014460.2020.1742379.
|
|
|
Harwood, R;
Allin, B;
Jones, CE;
Whittaker, E;
Ramnarayan, P;
Ramanan, AV;
Kaleem, M;
... PIMS-TS National Consensus Management Study Group; + view all
(2021)
A national consensus management pathway for paediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS): results of a national Delphi process.
The Lancet Child & Adolescent Health
, 5
(2)
pp. 133-141.
10.1016/S2352-4642(20)30304-7.
|
|
Haschler, TN;
Horsley, H;
Balys, M;
Anderson, G;
Taanman, JW;
Unwin, RJ;
Norman, JT;
(2021)
Sirtuin 5 depletion impairs mitochondrial function in human proximal tubular epithelial cells.
Scientific Reports
, 11
(1)
, Article 15510. 10.1038/s41598-021-94185-6.
|
|
|
Hashem, F;
Stephensen, D;
Drechsler, W;
Bladen, M;
Carroll, L;
Tracy, P-H;
Saloniki, E-C;
(2020)
Muscle strengthening intervention for boys with haemophilia: Developing and evaluating a best-practice exercise programme with boys, families and health-care professionals.
Health Expectations
, 23
(5)
pp. 1350-1361.
10.1111/hex.13119.
|
|
|
Hashimoto, Yasumasa;
Kuniishi, Hiroshi;
Sakai, Kazuhisa;
Fukushima, Yuta;
Du, Xuan;
Yamashiro, Kunihiko;
Hori, Kei;
... Aoki, Yoshitsugu; + view all
(2022)
Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy.
Progress in Neurobiology
, 216
, Article 102288. 10.1016/j.pneurobio.2022.102288.
|
|
Hatcher, J;
Gil, E;
Storey, N;
Brown, JR;
Hartley, JC;
Breuer, J;
Lucchini, G;
... Dunn, H; + view all
(2022)
Reactivation/relapse of SARS-CoV-2 in a child following haematopoietic stem cell transplantation, confirmed by whole genome sequencing, following apparent viral clearance.
Journal of Infection
10.1016/j.jinf.2022.05.043.
(In press).
|
|
Hauser, JA;
Jones, A;
Pandya, B;
Taylor, AM;
Muthurangu, V;
(2020)
Comprehensive MRI assessment of the cardiovascular responses to food ingestion in Fontan physiology.
American Journal of Physiology: Heart and Circulatory Physiology
, 319
(4)
H808-H813.
10.1152/ajpheart.00500.2020.
|
|
Haveliwala, Zeni;
Eaton, Simon;
Sivaraj, Jayaram;
Thakkar, Hemanshoo;
Omar, Sara;
Giuliani, Stefano;
Blackburn, Simon;
... De Coppi, Paolo; + view all
(2024)
Laparoscopic inguinal hernia repair (LIHR): the benefit of the double stitch in the largest single-center experience.
Pediatric Surgery International
, 40
, Article 17. 10.1007/s00383-023-05599-4.
|
|
Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
|
|
|
Hay, E;
Henderson, RH;
Mansour, S;
Deshpande, C;
Jones, R;
Nutan, S;
Mankad, K;
... Arno, G; + view all
(2020)
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Clinical Genetics
, 98
(2)
pp. 191-197.
10.1111/cge.13795.
|
|
|
Hay, E;
Wilson, LC;
Hoskins, B;
Samuels, M;
Munot, P;
Rahman, S;
(2021)
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.
European Journal of Human Genetics
10.1038/s41431-021-00932-8.
(In press).
|
|
|
Hayes, Wesley;
Marshall, Andrew;
Sutcliffe, Alastair;
Peters, Mark;
Cathie, Katrina;
GAPRUKI;
(2022)
Brief Report: Intravenous fluid prescribing and complications in children in the UK and Ireland.
Acta Paediatrica
, 111
(7)
pp. 1450-1451.
10.1111/apa.16295.
|
|
Hayes, Wesley N;
Laing, Emma;
Brown, Rosemary;
Silsby, Laura;
Smith, Laura;
Thomas, Helen;
Kaloyirou, Fotini;
... Peters, Mark J; + view all
(2023)
A pragmatic, open-label, randomized controlled trial of Plasma-Lyte-148 versus standard intravenous fluids in children receiving kidney transplants (PLUTO).
Kidney International
10.1016/j.kint.2023.09.032.
(In press).
|
|
|
Hayes, D;
Edbrooke-Childs, J;
Martin, K;
Reid, J;
Brown, R;
McCulloch, J;
Morton, L;
(2020)
Increasing person-centred care in paediatrics.
The Clinical Teacher
, 17
(4)
pp. 389-394.
10.1111/tct.13100.
|
|
Hayes, W;
(2018)
Ab-normal saline in abnormal kidney function: risks and alternatives.
[Review].
Pediatric Nephrology
10.1007/s00467-018-4008-1.
(In press).
|
|
|
Hayes, W;
(2018)
Measurement of iron status in chronic kidney disease.
Pediatric Nephrology
10.1007/s00467-018-3955-x.
(In press).
|
|
|
Hayes, W;
Allinovi, M;
(2018)
Beyond playing games: nephrologist vs machine in pediatric dialysis prescribing.
Pediatric Nephrology
, 33
(10)
pp. 1625-1627.
10.1007/s00467-018-4021-4.
|
|
|
Hayes, W;
Longley, C;
Scanlon, N;
Bryant, W;
Stojanovic, J;
Kessaris, N;
Van’t Hoff, W;
... Marks, SD; + view all
(2019)
Plasma electrolyte imbalance in pediatric kidney transplant recipients.
Pediatric Transplantation
, 23
(4)
, Article e13411. 10.1111/petr.13411.
|
|
He, KH;
Bruse, JL;
Rodriguez-Florez, N;
Dunaway, D;
Jeelani, O;
Schievano, S;
Borghi, A;
(2024)
Understanding the influence of surgical parameters on craniofacial surgery outcomes: a computational study.
Royal Society Open Science
, 11
(4)
, Article 231158. 10.1098/rsos.231158.
|
|
Heliö, T;
Elliott, P;
Koskenvuo, JW;
Gimeno, JR;
Tavazzi, L;
Tendera, M;
Kaski, JP;
... EORP Cardiomyopathy Registry Investigators Group, .; + view all
(2020)
ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients.
ESC Heart Failure
10.1002/ehf2.12925.
(In press).
|
|
|
Henderson, EM;
Rajapakse, D;
Kelly, P;
Boggs, T;
Bluebond-Langner, M;
(2019)
Patient-Controlled Analgesia for Children With Life-Limiting Conditions in the Community: Results of a Prospective Observational Study.
Journal of Pain and Symptom Management
, 57
(5)
e1-e4.
10.1016/j.jpainsymman.2019.02.015.
|
|
Hendriksen, JGM;
Thangarajh, M;
Kan, HE;
Muntoni, F;
ENMC 249th workshop study group;
(2020)
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th-December 1st 2019.
Neuromuscular Disorders
, 30
(9)
pp. 782-794.
10.1016/j.nmd.2020.08.357.
|
|
Heslop, E;
Turner, C;
Irvin, A;
Muntoni, F;
Straub, V;
Guglieri, M;
(2021)
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead.
Neuromuscular Disorders
, 31
(1)
pp. 69-78.
10.1016/j.nmd.2020.10.001.
|
|
|
Heutinck, P;
Knoops, P;
Florez, NR;
Biffi, B;
Breakey, W;
James, G;
Koudstaal, M;
... Borghi, A; + view all
(2021)
Statistical shape modelling for the analysis of head shape variations.
Journal of Cranio-Maxillofacial Surgery
, 49
(6)
pp. 449-455.
10.1016/j.jcms.2021.02.020.
|
|
Heywood, W;
Doykov, I;
Spiewak, J;
Hallqvist, J;
Mills, K;
Nowak, A;
(2019)
Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1865
(10)
pp. 2726-2735.
10.1016/j.bbadis.2019.07.005.
|
|
Hicks, D;
Rafiee, G;
Schwalbe, EC;
Howell, CI;
Lindsey, JC;
Hill, RM;
Smith, A;
... Clifford, SC; + view all
(2020)
The molecular landscape and associated clinical experience in infant medulloblastoma: prognostic significance of second-generation subtypes.
Neuropathology and Applied Neurobiology
10.1111/nan.12656.
(In press).
|
|
|
Hietamäki, J;
Gregory, LC;
Ayoub, S;
Iivonen, A-P;
Vaaralahti, K;
Liu, X;
Brandstack, N;
... Raivio, T; + view all
(2020)
Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism.
The Journal of Clinical Endocrinology & Metabolism
10.1210/clinem/dgaa078.
(In press).
|
|
|
Higgins, Conor J;
Kite, Kerry-Anne;
Klein, Nigel;
Super, Michael;
McCurdy, Michael T;
Hargrave, Darren;
(2023)
A novel diagnostic method for a rare fungus: FcMBL facilitates Wickerhamomyces anomalus identification in an immunocompromised neonate.
Medical Mycology Case Reports
, 42
, Article 100614. 10.1016/j.mmcr.2023.100614.
|
|
Hikmat, O;
Isohanni, P;
Keshavan, N;
Ferla, MP;
Fassone, E;
Abbott, M-A;
Bellusci, M;
... Rahman, S; + view all
(2021)
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Annals of Clinical and Translational Neurology
, 8
(11)
pp. 2155-2165.
10.1002/acn3.51470.
|
|
|
Hikmat, O;
Naess, K;
Engvall, M;
Klingenberg, C;
Rasmussen, M;
Tallaksen, CME;
Brodtkorb, E;
... Bindoff, LA; + view all
(2018)
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
Epilepsia
, 59
(8)
pp. 1595-1602.
10.1111/epi.14459.
|
|
Hikmat, O;
Naess, K;
Engvall, M;
Klingenberg, C;
Rasmussen, M;
Tallaksen, CME;
Brodtkorb, E;
... Bindoff, LA; + view all
(2020)
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Journal of Inherited Metabolic Disease
10.1002/jimd.12211.
|
|
|
Hikmat, O;
Naess, K;
Engvall, M;
Klingenberg, C;
Rasmussen, M;
Tallaksen, CME;
Samsonsen, C;
... Bindoff, LA; + view all
(2020)
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Annals of Clinical and Translational Neurology
, 7
(10)
pp. 2019-2025.
10.1002/acn3.51199.
|
|
|
Hill, M;
Hammond, J;
Sharmin, M;
Lewis, C;
Heathfield, M;
Crowe, B;
Götherström, C;
... DeVile, C; + view all
(2021)
Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals.
Disability and Health Journal
, Article 101168. 10.1016/j.dhjo.2021.101168.
(In press).
|
|
|
Hill, Rebecca M;
Plasschaert, Sabine LA;
Timmermann, Beate;
Dufour, Christelle;
Aquilina, Kristian;
Avula, Shivaram;
Donovan, Laura;
... Fleischhack, Gudrun; + view all
(2022)
Relapsed Medulloblastoma in Pre-Irradiated Patients: Current Practice for Diagnostics and Treatment.
Cancers
, 14
(1)
, Article 126. 10.3390/cancers14010126.
|
|
|
Hill, CS;
Borg, A;
Tahir, MZ;
Thompson, DNP;
(2020)
Atlantoaxial rotatory fixation in childhood: a staged management strategy incorporating manipulation under anaesthesia.
Child's Nervous System
10.1007/s00381-020-04727-y.
(In press).
|
|
|
Hill, CS;
Devesa, SC;
Ince, W;
Borg, A;
Aquilina, K;
(2020)
A systematic review of ongoing clinical trials in optic pathway gliomas.
Child's Nervous System
10.1007/s00381-020-04724-1.
(In press).
|
|
|
Hill, CS;
Khan, M;
Phipps, K;
Green, K;
Hargrave, D;
Aquilina, K;
(2021)
Neurosurgical experience of managing optic pathway gliomas.
Child's Nervous System
10.1007/s00381-021-05060-8.
(In press).
|
|
|
Hill, M;
Hammond, J;
Lewis, C;
Mellis, R;
Clement, E;
Chitty, LS;
(2020)
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.
European Journal of Human Genetics
10.1038/s41431-020-0667-z.
(In press).
|
|
|
Hill, M;
Lewis, C;
Riddington, M;
Crowe, B;
DeVile, C;
David, AL;
Semler, O;
... Chitty, LS; + view all
(2019)
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.
European Journal of Human Genetics
10.1038/s41431-019-0387-4.
(In press).
|
|
|
Hill, M;
Lewis, C;
Riddington, M;
Crowe, B;
DeVile, C;
Gotherstrom, C;
Chitty, L;
(2019)
Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review.
Disability and Health Journal
, 12
(3)
pp. 340-349.
10.1016/j.dhjo.2018.12.003.
|
|
|
Himmelreich, Nastassja;
Bertoldi, Mariarita;
Alfadhel, Majid;
Alghamdi, Malak Ali;
Anikster, Yair;
Bao, Xinhua;
Bashiri, Fahad A;
... Blau, Nenad; + view all
(2023)
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Molecular Genetics and Metabolism
, 139
(3)
, Article 107624. 10.1016/j.ymgme.2023.107624.
|
|
Hinks, A;
Marion, MC;
Cobb, J;
Comeau, ME;
Sudman, M;
Ainsworth, HC;
Bowes, J;
... Prahalad, S; + view all
(2018)
The genetic profile of RF-positive polyarticular juvenile idiopathic arthritis (JIA) resembles adult rheumatoid arthritis (RA).
Arthritis & Rheumatology
, 70
(6)
pp. 957-962.
10.1002/art.40443.
|
|
|
Hirunpattarasilp, Chanawee;
James, Greg;
Kwanthongdee, Jaturon;
Freitas, Felipe;
Huo, Jiandong;
Sethi, Huma;
Kittler, Josef T;
... Attwell, David; + view all
(2022)
SARS-CoV-2 triggers pericyte-mediated cerebral capillary constriction.
Brain
10.1093/brain/awac272.
(In press).
|
|
|
Hoang, TT;
Goldmuntz, E;
Roberts, AE;
Chung, WK;
Kline, JK;
Deanfield, JE;
Giardini, A;
... Agopian, AJ; + view all
(2018)
The Congenital Heart Disease Genetic Network Study: Cohort description.
PLoS ONE
, 13
(1)
, Article e0191319. 10.1371/journal.pone.0191319.
|
|
|
Hockings, C;
Gohil, S;
Dowse, R;
Hoade, Y;
Mansour, MR;
Gale, RE;
Linch, DC;
... Payne, EM; + view all
(2020)
In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation.
British Journal of Haematology
, 188
(4)
e53-e57.
10.1111/bjh.16322.
|
|
Hoffman, LM;
Veldhuijzen van Zanten, SEM;
Colditz, N;
Baugh, J;
Chaney, B;
Hoffmann, M;
Lane, A;
... Fouladi, M; + view all
(2018)
Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A Collaborative Report From the International and European Society for Pediatric Oncology DIPG Registries.
Journal of Clinical Oncology
, 36
(19)
pp. 1963-1972.
10.1200/JCO.2017.75.9308.
|
|
Hogg, HDJ;
Low, L;
Self, JE;
Royal College of Ophthalmologists’ Academic, and Research Subcommittee;
Rahi, JS;
(2022)
Impact of the COVID-19 pandemic on the research activities of UK ophthalmologists.
Eye
10.1038/s41433-022-02293-y.
(In press).
|
|
Hol, JA;
Jewell, R;
Chowdhury, T;
Duncan, C;
Nakata, K;
Oue, T;
Gauthier-Villars, M;
... Jongmans, MCJ; + view all
(2021)
Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group.
European Journal of Cancer
, 153
pp. 51-63.
10.1016/j.ejca.2021.05.014.
|
|
|
Hol, JA;
Jongmans, MCJ;
Sudour-Bonnange, H;
Ramírez-Villar, GL;
Chowdhury, T;
Rechnitzer, C;
Pal, N;
... International Society of Pediatric Oncology Renal Tumor Study Gr, .; + view all
(2020)
Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.
Cancer
10.1002/cncr.33304.
(In press).
|
|
|
Holl, DC;
Chari, A;
Iorio-Morin, C;
Dammers, R;
van der Gaag, NA;
Kolias, AG;
Hutchinson, PJ;
(2021)
Study Protocol on Defining Core Outcomes and Data Elements in Chronic Subdural Haematoma.
Neurosurgery
, 89
(4)
pp. 720-725.
10.1093/neuros/nyab268.
|
|
|
Hollins, Chris;
Hall, Charlotte L;
Khan, Kareem;
Le Novere, Marie;
Marston, Louise;
Jones, Rebecca;
Hunter, Rachael;
... Murphy, Tara; + view all
(2023)
Online Remote Behavioural Intervention for Tics in 9 to 17-year-olds: the ORBIT RCT with embedded process and economic evaluation.
Health Technology Assessment
, 27
(18)
10.3310/CPMS3211.
|
|
Hollis, Chris;
Hall, Charlotte L;
Khan, Kareem;
Jones, Rebecca;
Marston, Louise;
Le Novere, Marie;
Hunter, Rachael;
... Murphy, Tara; + view all
(2023)
Long-term clinical and cost-effectiveness of a therapist-supported online remote behavioural intervention for tics in children and adolescents: extended 12- and 18-month follow-up of a single-blind randomised controlled trial.
Journal of Child Psychology and Psychiatry
, 64
(6)
pp. 941-951.
10.1111/jcpp.13756.
|
|
Holmes, S;
Male, AJ;
Ramdharry, G;
Woodward, C;
James, N;
Skorupinska, I;
Skorupinska, M;
... Pitceathly, RDS; + view all
(2018)
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2018-319267.
(In press).
|
|
|
Hong, Y;
Capitani, M;
Murphy, C;
Pandey, S;
Cavounidis, A;
Takeshita, H;
Nanthapisal, S;
... Brogan, P; + view all
(2019)
Janus kinase inhibition for autoinflammation in DNASE2 deficiency.
Journal of Allergy and Clinical Immunology
10.1016/j.jaci.2019.11.020.
(In press).
|
|
|
Hong, Y;
Keylock, A;
Jensen, B;
Jacques, TS;
Ogunbiyi, O;
Omoyinmi, E;
Saunders, D;
... Eleftheriou, D; + view all
(2020)
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Neurology Genetics
, 6
(4)
, Article e448. 10.1212/NXG.0000000000000448.
|
|
|
Hong, Y;
Nanthapisal, S;
Omoyinmi, E;
Olbrich, P;
Neth, O;
Speckmann, C;
Lucena, JM;
... Brogan, P; + view all
(2019)
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Frontiers in Immunology
, 10
, Article 2589. 10.3389/fimmu.2019.02589.
|
|
|
Hood, AM;
Kölbel, M;
Stotesbury, H;
Kawadler, J;
Slee, A;
Inusa, B;
Pelidis, M;
... Liossi, C; + view all
(2021)
Biopsychosocial Predictors of Quality of Life in Paediatric Patients With Sickle Cell Disease.
Frontiers in Psychology
, 12
, Article 681137. 10.3389/fpsyg.2021.681137.
|
|
|
HOPE, S;
Micali, N;
Deighton, JJ;
Law, C;
(2018)
Maternal mental health at 5 years and childhood overweight or obesity at 11 years: evidence from the UK Millennium Cohort Study.
International Journal of Obesity
, 43
pp. 43-52.
10.1038/s41366-018-0252-5.
|
|
Horga, L-M;
Henckel, J;
Fotiadou, A;
Di Laura, A;
Hirschmann, A;
Hart, A;
(2021)
Magnetic Resonance Imaging of the Hips of Runners Before and After Their First Marathon Run: Effect of Training for and Completing a Marathon.
Orthopaedic Journal of Sports Medicine
, 9
(7)
, Article 23259671211010405. 10.1177/23259671211010405.
|
|
Horga, A;
Woodward, CE;
Mills, A;
Pareés, I;
Hargreaves, IP;
Brown, RM;
Bugiardini, E;
... Hanna, MG; + view all
(2019)
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Human Genetics
10.1007/s00439-019-02075-9.
(In press).
|
|
|
Horgan, Claire;
Mullanfiroze, Khushnuma;
Rauthan, Archana;
Patrick, Katharine;
Butt, Naeem Akram;
Mirci-Danicar, Oana;
O'Connor, Olya;
... Wynn, Robert; + view all
(2023)
T-replete cord transplants give superior outcomes in high risk and relapsed/refractory paediatric myeloid malignancy.
Blood Advances
10.1182/bloodadvances.2022009253.
(In press).
|
|
Horsfall, HL;
Mohan, M;
Devi, BI;
Adeleye, AO;
Shukla, DP;
Bhat, D;
Khan, M;
... Kolias, AG; + view all
(2019)
Hinge/floating craniotomy as an alternative technique for cerebral decompression: a scoping review.
Neurosurgical Review
10.1007/s10143-019-01180-7.
(In press).
|
|
|
Horton, Rebecca H;
Saade, Dimah;
Markati, Theodora;
Harriss, Elinor;
Bonnemann, Carsten G;
Muntoni, Francesco;
Servais, Laurent;
(2022)
A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2022-329431.
(In press).
|
|
Horvat-Gitsels, LA;
Cortina-Borja, M;
Rahi, JS;
(2023)
Educational attainment and trajectories at key stages of schooling for children with amblyopia compared to those without eye conditions: Findings from the Millennium Cohort Study.
PLoS ONE
, 18
(3)
, Article e0283786. 10.1371/journal.pone.0283786.
|
|
Horvat-Gitsels, LA;
Cortina-Borja, M;
Solebo, AL;
Rahi, JS;
(2021)
Impaired vision and physical activity in childhood and adolescence: findings from the Millennium Cohort Study.
British Journal of Ophthalmology
10.1136/bjophthalmol-2021-320315.
(In press).
|
|
Horvat-Gitsels, Lisanne A;
Cortina-Borja, Mario;
Rahi, Jugnoo S;
(2022)
Do adolescents with impaired vision have different intentions and ambitions for their education, career and social outcomes compared to their peers? Findings from the Millennium Cohort Study.
British Journal of Opthalmology
10.1136/bjo-2021-320972.
(In press).
|
|
Hoshino, Yukiko;
Takechi, Masaki;
Moazen, Mehran;
Steacy, Miranda;
Koyabu, Daisuke;
Furutera, Toshiko;
Ninomiya, Youichirou;
... Iseki, Sachiko; + view all
(2023)
Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.
Journal of Anatomy
, 242
(3)
10.1111/joa.13790.
|
|
Hoskote, A;
Ridout, D;
Banks, V;
Kakat, S;
Lakhanpaul, M;
Pagel, C;
Franklin, RC;
... Brown, K; + view all
(2020)
Neurodevelopmental status and follow-up in preschool children with heart disease in London, UK.
Archives of Disease in Childhood
10.1136/archdischild-2019-317824.
(In press).
|
|
|
Hothi, H;
Tucker, S;
Shafafy, M;
Nnadi, C;
Cheung, KMC;
Dal Gal, E;
Tognini, M;
... Hart, A; + view all
(2020)
Management of patients with magnetically controlled growth rods amidst the global COVID-19 pandemic.
European Spine Journal
, 29
(10)
pp. 2409-2412.
10.1007/s00586-020-06516-2.
|
|
|
Hough, R;
Lopes, A;
Patrick, P;
Russell, N;
Raj, K;
Tholouli, E;
Snowden, JA;
... Marks, D; + view all
(2022)
Primary graft failure, but not relapse, may be identified by early chimerism following double cord blood unit transplantation.
Blood Advances
, 6
(7)
pp. 2414-2426.
10.1182/bloodadvances.2021005106.
|
|
Houghton, BC;
Booth, C;
(2021)
Gene Therapy for Primary Immunodeficiency.
Hemasphere
, 5
(1)
, Article e509. 10.1097/HS9.0000000000000509.
|
|
|
Houldcroft, CJ;
Roy, S;
Morfopoulou, S;
Margetts, BK;
Depledge, DP;
Cudini, J;
Shah, D;
... Breuer, J; + view all
(2018)
Use of Whole-genome Sequencing of Adenovirus in Immunocompromised Paediatric Patients to Identify Nosocomial Transmission and Mixed-genotype Infection.
The Journal of Infectious Diseases
, 218
(8)
pp. 1261-1271.
10.1093/infdis/jiy323.
|
|
Howard, J;
Lee, SA;
Inusa, B;
Cheng, MYE;
Bavenjit, C;
Reading, IC;
Wakeford, SA;
... Liossi, C; + view all
(2019)
Prevention of Morbidity in Sickle Cell Disease (POMS2a)-overnight auto-adjusting continuous positive airway pressure compared with nocturnal oxygen therapy: a randomised crossover pilot study examining patient preference and safety in adults and children.
Trials
, 20
(1)
, Article 442. 10.1186/s13063-019-3461-x.
|
|
|
Howley, Evey;
Golwala, Zainab;
Buckland, Matthew;
Barzaghi, Federica;
Ghosh, Sujal;
Hackett, Scott;
Hague, Rosie;
... Kreins, Alexandra Y; + view all
(2023)
Impact of newborn screening for SCID on the management of congenital athymia.
Journal of Allergy and Clinical Immunology
10.1016/j.jaci.2023.08.031.
|
|
Hsia, Y;
Lee, BR;
Versporten, A;
Yang, Y;
Bielicki, J;
Jackson, C;
Newland, J;
... Gawrys, G; + view all
(2019)
Use of the WHO Access, Watch, and Reserve classification to define patterns of hospital antibiotic use (AWaRe): an analysis of paediatric survey data from 56 countries.
The Lancet Global Health
, 7
(7)
e861-e871.
10.1016/S2214-109X(19)30071-3.
|
|
|
Hübschmann, OK;
Horvath, G;
Cortès-Saladelafont, E;
Yildiz, Y;
Mastrangelo, M;
Pons, R;
Friedman, J;
... Opladen, T; + view all
(2021)
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nature Communications
, 12
, Article 5529. 10.1038/s41467-021-25515-5.
|
|
|
Hudson, Lee D;
Al-Khairulla, Hind;
Maicoo, Matthew;
Borja, Mario Cortina;
Rapala, Alicja;
Viner, Russell;
Nicholls, Dasha;
... Hughes, Alun; + view all
(2023)
Pulse wave velocity during re-feeding and with weight gain in underweight female adolescents with anorexia nervosa.
Journal of Human Hypertension
, 37
pp. 1126-1128.
10.1038/s41371-023-00848-4.
|
|
Hudson, Lee D;
Chapman, Simon;
Street, Karen Nicola;
Nicholls, Dasha;
Roland, Damian;
Dubicka, Bernadka;
Gibson, Faith;
... Viner, Russell M; + view all
(2022)
Increased admissions to paediatric wards with a primary mental health diagnosis: results of a survey of a network of eating disorder paediatricians in England.
Archives of Disease in Childhood
, 107
(3)
pp. 309-310.
10.1136/archdischild-2021-322700.
|
|
|
Hudson, Lee Duncan;
Vázquez-Vázquez, Adriana;
Gibson, Faith;
Phillips, Kirsty;
Mathews, Gabrielle;
Roberts, Helen;
Cornaglia, Francesca;
... Viner, Russell; + view all
(2024)
Mental Health Admissions to Paediatric Wards Study (MAPS): protocol of a prospective study of mental health admissions to paediatric wards in England using surveillance and qualitative methods.
BMJ Paediatrics Open
, 8
(1)
, Article e002186. 10.1136/bmjpo-2023-002186.
|
|
Hudson, Lee Duncan;
Ward, Joseph;
Vázquez-Vázquez, Adriana;
Settle, Kate;
Cornaglia, Francesca;
Gibson, Faith;
Phillips, Kirsty;
... Viner, Russell; + view all
(2024)
Mental Health Admissions to Paediatric Wards Study (MAPS): a protocol for the analysis of Hospital Episode Statistics (HES) data.
BMJ Paediatric Open
, 8
(1)
, Article e002352. 10.1136/bmjpo-2023-002352.
|
|
Hudson, E;
Brown, K;
Pagel, C;
Wray, J;
Barron, D;
Rodrigues, W;
Stoica, S;
... Morris, S; + view all
(2020)
Costs of postoperative morbidity following paediatric cardiac surgery: observational study.
Archives of Disease in Childhood
10.1136/archdischild-2019-318499.
(In press).
|
|
|
Huggett, JF;
Benes, V;
Bustin, SA;
Garson, JA;
Harris, K;
Kammel, M;
Kubista, M;
... Zeichhardt, H; + view all
(2020)
Cautionary note on contamination of reagents used for molecular detection of SARS-CoV-2.
Clinical Chemistry
10.1093/clinchem/hvaa214.
(In press).
|
|
|
Hughes, C;
Ferro, A;
Dubb, S;
Gass, J;
Hook, L;
Santhanam, V;
Kinsler, V;
(2021)
Epidermal choristoma: a case series and review of the literature.
Pediatric Dermatology
, 38
(5)
pp. 1243-1246.
10.1111/pde.14589.
|
|
Hughes, Connor T;
Dadhra, Jusvinder;
Polubothu, Satyamaanasa;
Kinsler, Veronica A;
(2024)
Vitamin D status in children with congenital melanocytic nevi.
Pediatric Dermatology
, 41
(1)
pp. 58-60.
10.1111/pde.15462.
|
|
|
Hughes, RK;
Camaioni, C;
Augusto, JB;
Knott, K;
Quinn, E;
Captur, G;
Seraphim, A;
... Moon, JC; + view all
(2021)
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Journal of the American Heart Association
, 10
, Article e020227. 10.1161/JAHA.120.020227.
|
|
|
Hui, L;
Szepe, E;
Halliday, J;
Lewis, C;
(2020)
Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review.
Prenatal Diagnosis
, 40
(6)
pp. 652-660.
10.1002/pd.5673.
|
|
Hull, S;
Arno, G;
Ostergaard, P;
Pontikos, N;
Robson, AG;
Webster, AR;
Hogg, CR;
... Michaelides, M; + view all
(2019)
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
American Journal of Ophthalmology
, 207
pp. 87-98.
10.1016/j.ajo.2019.05.001.
|
|
Hureaux, M;
Ashton, E;
Dahan, K;
Houillier, P;
Blanchard, A;
Cormier, C;
Koumakis, E;
... Vargas-Poussou, R; + view all
(2019)
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Kidney International
, 96
(6)
pp. 1408-1416.
10.1016/j.kint.2019.08.027.
|
|
Hussein, Z;
Glynn, N;
Martin, N;
Alkrekshi, A;
Mendoza, N;
Nair, R;
McCullough, K;
... Baldeweg, SE; + view all
(2021)
Temporal trends in craniopharyngioma management and long-term endocrine outcomes: a multicentre cross-sectional study.
Clinical Endocrinology
, 94
(2)
pp. 242-249.
10.1111/cen.14334.
|
|
|
Hutchings, N;
Wood, W;
Reading, I;
Walker, E;
Blazeby, J;
Van't Hoff, W;
Young, B;
... Hall, N; + view all
(2018)
CONTRACT Study - CONservative TReatment of Appendicitis in Children (feasibility): study protocol for a randomised controlled Trial.
Trials
, 19
(153)
10.1186/s13063-018-2520-z.
|
|
|
Hutchinson, C;
Shelmerdine, SC;
Lewis, C;
Parmenter, J;
Simcock, IC;
Ward, L;
Ashworth, MT;
... Sebire, NJ; + view all
(2019)
Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure.
Ultrasound in Obstetrics & Gynecology
, 54
(5)
pp. 661-669.
10.1002/uog.20211.
|
|
Hutchinson, JC;
Kang, X;
Shelmerdine, SC;
Segers, V;
Lombardi, CM;
Cannie, MM;
Sebire, NJ;
... Arthurs, OJ; + view all
(2018)
Postmortem microfocus computed tomography for early gestation fetuses: a validation study against conventional autopsy.
American Journal of Obstetrics and Gynecology
, 218
(4)
10.1016/j.ajog.2018.01.040.
|
|
Hutchinson, PJ;
Edlmann, E;
Bulters, D;
Zolnourian, A;
Holton, P;
Suttner, N;
Agyemang, K;
... Dex-CSDH Trial Collaborators, .; + view all
(2020)
Trial of Dexamethasone for Chronic Subdural Hematoma.
The New England Journal of Medicine
, 383
(27)
pp. 2616-2627.
10.1056/NEJMoa2020473.
|
|
Hynds, RE;
Gowers, KHC;
Nigro, E;
Butler, CR;
Bonfanti, P;
Giangreco, A;
Prele, CM;
(2018)
Cross-talk between human airway epithelial cells and 3T3-J2 feeder cells involves partial activation of human MET by murine HGF.
PLoS ONE
, 13
(5)
, Article e0197129. 10.1371/journal.pone.0197129.
|
|
|
Hynds, RE;
Zacharias, WJ;
Nikolić, MZ;
Königshoff, M;
Eickelberg, O;
Gosens, R;
de Coppi, P;
... Lin, QS; + view all
(2021)
National Heart, Lung and Blood Institute and Building Respiratory Epithelium and Tissue for Health (BREATH) Consortium Workshop Report: Moving Forward in Lung Regeneration.
American Journal of Respiratory Cell and Molecular Biology
10.1165/rcmb.2020-0397WS.
(In press).
|
|
|
Hysi, PG;
Choquet, H;
Khawaja, AP;
Wojciechowski, R;
Tedja, MS;
Yin, J;
Simcoe, MJ;
... Hammond, CJ; + view all
(2020)
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.
Nature Genetics
, 52
pp. 401-407.
10.1038/s41588-020-0599-0.
|
I
|
Ibanez-Bruron, MC;
Solebo, AL;
Cumberland, PM;
Rahi, JS;
Diabetic Eye Disease in Childhood Study (DECS) group;
(2019)
Vulnerabilities in diabetic eye screening for children and young people in England.
Pediatric Diabetes
, 20
(7)
pp. 932-940.
10.1111/pedi.12887.
|
|
Ibrahim, Majitha Seyed;
Gold, Jessica I;
Woodall, Alison;
Yilmaz, Berna Seker;
Gissen, Paul;
Stepien, Karolina M;
(2023)
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
Children
, 10
(8)
, Article 1368. 10.3390/children10081368.
|
|
Ibrahim, A;
Rodriguez-Florez, N;
Gardner, OFW;
Zucchelli, E;
New, SEP;
Borghi, A;
Dunaway, D;
... Ferretti, P; + view all
(2020)
Three‐dimensional environment and vascularization induce osteogenic maturation of human adipose‐derived stem cells comparable to that of bone‐derived progenitors.
Stem Cells Translational Medicine
10.1002/sctm.19-0207.
(In press).
|
|
|
Ibrahim, H;
Liu, X;
Rivera, SC;
Moher, D;
Chan, A-W;
Sydes, MR;
Calvert, MJ;
(2021)
Reporting guidelines for clinical trials of artificial intelligence interventions: the SPIRIT-AI and CONSORT-AI guidelines.
Trials
, 22
(1)
p. 11.
10.1186/s13063-020-04951-6.
|
|
|
Idowu, Joan;
Pearson, Natalie;
Meades, Collette;
Cross, J Helen;
Muggeridge, Amy;
Lakhanpaul, Monica;
Robinson, Kerry;
... Reilly, Colin; + view all
(2024)
Accelerometer and Survey Assessed Physical Activity in Children With Epilepsy: A Case-Controlled Study.
Pediatric Exercise Science
pp. 1-9.
10.1123/pes.2023-0065.
(In press).
|
|
|
Iff, Joel;
Done, Nicolae;
Tuttle, Edward;
Zhong, Yi;
Wei, Fangzhou;
Darras, Basil T;
McDonald, Craig M;
... Muntoni, Francesco; + view all
(2024)
Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.
Muscle & Nerve
10.1002/mus.28075.
(In press).
|
|
IJsselstijn, H;
Breatnach, C;
Hoskote, A;
Greenough, A;
Patel, N;
Capolupo, I;
Morini, F;
... CDH EURO Consortium Group; + view all
(2018)
Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium.
Pediatric Research
, 84
pp. 181-189.
10.1038/s41390-018-0063-3.
|
|
Iliadou, VV;
Chermak, GD;
Bamiou, D-E;
Rawool, VW;
Ptok, M;
Purdy, S;
Jutras, B;
... Musiek, FE; + view all
(2018)
Letter to the Editor: An Affront to Scientific Inquiry Re: Moore, D. R. (2018) Editorial: Auditory Processing Disorder, Ear Hear, 39, 617-620.
[Letter].
Ear and Hearing
, 39
(6)
pp. 1236-1242.
10.1097/AUD.0000000000000644.
|
|
Iliadou, VV;
Ptok, M;
Grech, H;
Pedersen, ER;
Brechmann, A;
Deggouj, N;
Kiese-Himmel, C;
... Bamiou, D-E; + view all
(2018)
European 17 countries consensus endorses more approaches to APD than reported in Wilson 2018.
International Journal of Audiology
, 57
(5)
pp. 395-396.
10.1080/14992027.2018.1442937.
|
|
Illingworth, Christopher JR;
Guerra-Assuncao, Jose A;
Gregg, Samuel;
Charles, Oscar;
Pang, Juanita;
Roy, Sunando;
Abdelnabi, Rana;
... Breuer, Judith; + view all
(2024)
Genetic consequences of effective and suboptimal dosing with mutagenic drugs in a hamster model of SARS-CoV-2 infection.
Virus Evolution
, 10
(1)
, Article veae001. 10.1093/ve/veae001.
|
|
Indolfi, G;
Bailey, H;
Serranti, D;
Giaquinto, C;
Thorne, C;
PENTAHep Study Group;
(2019)
Treatment and Monitoring of Children with Chronic Hepatitis C in the Pre-DAA Era: a European Survey of 38 Paediatric Specialists.
Journal of Viral Hepatitis
, 26
(8)
pp. 961-968.
10.1111/jvh.13111.
|
|
Ip, W;
Silva, JMF;
Gaspar, H;
Mitra, A;
Patel, S;
Rao, K;
Chiesa, R;
... Qasim, W; + view all
(2018)
Multicenter phase 1/2 application of adenovirus-specific T cells in high-risk pediatric patients after allogeneic stem cell transplantation.
Cytotherapy
, 20
(6)
pp. 830-838.
10.1016/j.jcyt.2018.03.040.
|
|
Irving, S;
Dixon, M;
Fassad, MR;
Frost, E;
Hayward, J;
Kilpin, K;
Ollosson, S;
... Bush, A; + view all
(2018)
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.
Lung
, 196
(2)
pp. 231-238.
10.1007/s00408-018-0086-x.
|
|
|
Ishida, M;
Cullup, T;
Boustred, C;
James, C;
Docker, J;
English, C;
GOSgene, .;
... Stanier, PM; + view all
(2018)
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical Genetics
, 93
(4)
pp. 870-879.
10.1111/cge.13189.
|
|
|
Islam, S;
Tekman, M;
Flanagan, SE;
Guay-Woodford, L;
Hussain, K;
Ellard, S;
Kleta, R;
... Iancu, D; + view all
(2021)
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Molecular Genetics & Genomic Medicine
, Article e1674. 10.1002/mgg3.1674.
(In press).
|
|
|
Issitt, Richard W;
Cortina-Borja, Mario;
Bryant, William;
Bowyer, Stuart;
Taylor, Andrew M;
Sebire, Neil;
(2022)
Classification Performance of Neural Networks Versus Logistic Regression Models: Evidence From Healthcare Practice.
Cureus
, 14
(2)
, Article e22443. 10.7759/cureus.22443.
|
|
Issitt, R;
Booth, J;
Crook, R;
Robertson, A;
Molyneux, V;
Richardson, R;
Cross, N;
... Fenton, M; + view all
(2021)
Intraoperative anti-A/B immunoadsorption is associated with significantly reduced blood product utilization with similar outcomes in pediatric ABO-incompatible heart transplantation.
The Journal of Heart and Lung Transplantation
10.1016/j.healun.2021.05.010.
(In press).
|
|
|
Issitt, RW;
Booth, J;
Bryant, WA;
Spiridou, A;
Taylor, AM;
Pre, PD;
Ramnarayan, P;
... Sebire, NJ; + view all
(2020)
Children with COVID-19 at a specialist centre: initial experience and outcome.
The Lancet Child & Adolescent Health
, 4
(8)
e30-e31.
10.1016/S2352-4642(20)30204-2.
|
|
|
Iwan, K;
Clayton, R;
Mills, P;
Csanyi, B;
Gissen, P;
Mole, SE;
Palmer, DN;
... Heywood, WE; + view all
(2021)
Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses.
iScience
, 4
(2)
, Article 102020. 10.1016/j.isci.2020.102020.
|
|
|
Izotova, N;
Rivat, C;
Baricordi, C;
Blanco, E;
Pellin, D;
Watt, E;
Gkazi, AS;
... Biasco, L; + view all
(2021)
Long-term lymphoid progenitors independently sustain naïve T and NK cell production in humans.
Nature Communications
, 12
, Article 1622. 10.1038/s41467-021-21834-9.
|
|
J
|
Jabbari, E;
Koga, S;
Valentino, R;
Reynolds, R;
Ferrari, R;
Tan, M;
Rowe, J;
... Morris, H; + view all
(2021)
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
The Lancet Neurology
, 20
(2)
pp. 107-116.
10.1016/S1474-4422(20)30394-X.
|
|
Jackson, A;
Lin, SJ;
Jones, EA;
Chandler, KE;
Orr, D;
Moss, C;
Haider, Z;
... Hoogerbrugge, N; + view all
(2023)
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Human Genetics and Genomics Advances
, 4
(2)
, Article 100186. 10.1016/j.xhgg.2023.100186.
|
|
Jackson, Daniel J;
Dubis, Adam M;
Moosajee, Mariya;
(2022)
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.
International Journal of Molecular Sciences
, 23
(12)
, Article 6785. 10.3390/ijms23126785.
|
|
Jackson, Thomas J;
Brisse, Herve J;
Pritchard-Jones, Kathy;
Nakata, Kayo;
Morosi, Carlo;
Oue, Takahara;
Irtan, Sabine;
... SIOP RTSG Biopsy Working Group, .; + view all
(2022)
How we approach paediatric renal tumour core needle biopsy in the setting of preoperative chemotherapy: A Review from the SIOP Renal Tumour Study Group.
Pediatric Blood & Cancer
, Article e29702. 10.1002/pbc.29702.
(In press).
|
|
Jackson, Thomas John;
Napper, Rachel;
Haeusler, Gabrielle M;
Pizer, Barry;
Bate, Jessica;
Grundy, Richard G;
Samarasinghe, Sujith;
... Morgan, Jessica Elizabeth; + view all
(2022)
Can I go home now? The safety and efficacy of a new UK paediatric febrile neutropenia protocol for risk-stratified early discharge on oral antibiotics.
Archives of Disease in Childhood
, 108
(3)
pp. 192-197.
10.1136/archdischild-2021-323254.
|
|
Jackson, D;
Malka, S;
Harding, P;
Palma, J;
Dunbar, H;
Moosajee, M;
(2020)
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
10.1002/ajmg.c.31837.
(In press).
|
|
|
Jackson, TJ;
Williams, RD;
Brok, J;
Chowdhury, T;
Ronghe, M;
Powis, M;
Pritchard-Jones, K;
... Children's Cancer and Leukaemia Group (CCLG) Renal Tumours Group; + view all
(2019)
The diagnostic accuracy and clinical utility of pediatric renal tumor biopsy: Report of the UK experience in the SIOP UK WT 2001 trial.
Pediatric Blood & Cancer
, 66
(6)
, Article e27627. 10.1002/pbc.27627.
|
|
|
Jacob, Mboka;
Kawadler, Jamie M;
Murdoch, Russell;
Ahmed, Magda;
Tutuba, Hilda;
Masamu, Upendo;
Shmueli, Karin;
... Kirkham, Fenella J; + view all
(2022)
Brain volume in Tanzanian children with sickle cell anaemia: A neuroimaging study.
British Journal of Haematology
10.1111/bjh.18503.
(In press).
|
|
Jacobs, Benjamin Meir;
Peter, Michelle;
Giovannoni, Gavin;
Noyce, Alastair J;
Morris, Huw R;
Dobson, Ruth;
(2022)
Towards a global view of multiple sclerosis genetics.
Nature Reviews Neurology
, 18
(10)
pp. 613-623.
10.1038/s41582-022-00704-y.
|
|
|
Jacobsen, MC;
Manunta, MDI;
Pincott, ES;
Fenton, M;
Simpson, GL;
Klein, NJ;
Burch, M;
(2018)
Specific Immunity to Cytomegalovirus in Pediatric Cardiac Transplantation.
Transplantation
, 102
(9)
pp. 1569-1575.
10.1097/TP.0000000000002157.
|
|
Jain, P;
Miller-Fleming, T;
Topaloudi, A;
Yu, D;
Drineas, P;
Georgitsi, M;
Yang, Z;
... Paschou, P; + view all
(2023)
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Translational psychiatry
, 13
(1)
, Article 69. 10.1038/s41398-023-02341-5.
|
|
Jalal, S;
Dastidar, S;
Tedesco, FS;
(2021)
Advanced models of human skeletal muscle differentiation, development and disease: Three-dimensional cultures, organoids and beyond.
Current Opinion in Cell Biology
, 73
pp. 92-104.
10.1016/j.ceb.2021.06.004.
|
|
|
Jamieson, L;
Harrop, E;
Johnson, M;
Liossi, C;
Mott, C;
Oulton, K;
Skene, SS;
... Howard, RF; + view all
(2021)
Healthcare professionals' views of the use of oral morphine and transmucosal diamorphine in the management of paediatric breakthrough pain and the feasibility of a randomised controlled trial: A focus group study (DIPPER).
Palliative Medicine
10.1177/02692163211008737.
(In press).
|
|
|
Jancovski, N;
Baldwin, T;
Orford, M;
Li, M;
Jones, GD;
Burbano, L;
Rutherford, T;
... Petrou, S; + view all
(2021)
Protective effects of MCT diet in a mouse model of Dravet syndrome.
Epilepsia
, 62
(12)
pp. 3131-3142.
10.1111/epi.17101.
|
|
Jaroszynska, N;
Harding, P;
Moosajee, M;
(2021)
Metabolism in the Zebrafish Retina.
Journal of Developmental Biology
, 9
(1)
, Article 10. 10.3390/jdb9010010.
|
|
|
Jay, M;
Thomas, B;
Nandi, R;
Howard, RF;
(2018)
On the Difficulties of Studying Pain Management in Individuals with Developmental Delay.
[Letter].
Pain Medicine
, 19
(7)
pp. 1503-1504.
10.1093/pm/pny011.
|
|
Jay, MA;
Mc Grath-Lone, L;
(2019)
Educational outcomes of children in contact with social care in England: a systematic review.
Systematic Reviews
, 8
, Article 155. 10.1186/s13643-019-1071-z.
|
|
|
Jayakar, P;
Jayakar, A;
Libenson, M;
Arzimanoglou, A;
Rydenhag, B;
Cross, JH;
Bhatia, S;
... Gaillard, WD; + view all
(2018)
Epilepsy surgery near or in eloquent cortex in children—Practice patterns and recommendations for minimizing and reporting deficits.
Epilepsia
, 59
(8)
pp. 1484-1491.
10.1111/epi.14510.
|
|
Jayarajan, Vignesh;
Hall, George T;
Xenakis, Theodoros;
Bulstrode, Neil;
Moulding, Dale;
Castellano, Sergi;
Di, Wei-Li;
(2023)
Short-Term Treatment with Rho-Associated Kinase Inhibitor Preserves Keratinocyte Stem Cell Characteristics In Vitro.
Cells
, 12
(3)
p. 346.
10.3390/cells12030346.
|
|
Jeelani, NUO;
Borghi, A;
Florez, NR;
Bozkurt, S;
Dunaway, D;
Schievano, S;
(2020)
The Science Behind the Springs: Using Biomechanics and Finite Element Modeling to Predict Outcomes in Spring-Assisted Sagittal Synostosis Surgery.
Journal of Craniofacial Surgery
, 31
(7)
pp. 2074-2078.
10.1097/SCS.0000000000006865.
|
|
Jefferson, Emily;
Cole, Christian;
Mumtaz, Shahzad;
Cox, Sam;
Giles, Tom;
Adejumo, Samuel;
Urwin, Esmond;
... Quinlan, Philip; + view all
(2022)
A Hybrid Architecture (CO-CONNECT) to Facilitate Rapid Discovery and Access to Data Across the United Kingdom in Response to the COVID-19 Pandemic: Development Study.
Journal of Medical Internet Research
, 24
(12)
, Article e40035. 10.2196/40035.
|
|
Jensen, B;
James, R;
Hong, Y;
Omoyinmi, E;
Pilkington, C;
Sebire, NJ;
Howell, KJ;
... Eleftheriou, D; + view all
(2020)
A case of Myhre syndrome mimicking juvenile scleroderma.
Pediatric Rheumatology
, 18
(1)
, Article 72. 10.1186/s12969-020-00466-1.
|
|
|
Jeon, FHK;
Griffin, M;
Almadori, A;
Varghese, J;
Bogan, S;
Younis, I;
Mosahebi, A;
(2020)
Measuring Differential Volume Using the Subtraction Tool for Three-Dimensional Breast Volumetry: A Proof of Concept Study.
Surgical Innovation
10.1177/1553350620945563.
(In press).
|
|
|
Jethwa, S;
Pressler, RM;
Kaya, D;
Datta, AN;
(2022)
Sleep architecture in neonatal and infantile onset epilepsies in the first six months of life: A scoping review.
European Journal of Paediatric Neurology
, 41
pp. 99-108.
10.1016/j.ejpn.2022.11.004.
|
|
Jevans, Benjamin;
Cooper, Fay;
Fatieieva, Yuliia;
Gogolou, Antigoni;
Kang, Yi-Ning;
Restuadi, Restuadi;
Moulding, Dale;
... McCann, Conor J; + view all
(2024)
Human enteric nervous system progenitor transplantation improves functional responses in Hirschsprung disease patient-derived tissue.
Gut
10.1136/gutjnl-2023-331532.
(In press).
|
|
Jewell, T;
Herle, M;
Serpell, L;
Eivors, A;
Simic, M;
Fonagy, P;
Eisler, I;
(2023)
Attachment and mentalization as predictors of outcome in family therapy for adolescent anorexia nervosa.
European Child and Adolescent Psychiatry
, 32
pp. 1241-1251.
10.1007/s00787-021-01930-3.
|
|
Jewell, Tom;
Apostolidou, Eleni;
Sadikovic, Kevser;
Tahta-Wraith, Kirsty;
Liston, Sarah;
Simic, Mima;
Eisler, Ivan;
... Yorke, Isabel; + view all
(2023)
Attachment in individuals with eating disorders compared to community controls: A systematic review and meta-analysis.
International Journal of Eating Disorders
, 56
(5)
pp. 888-908.
10.1002/eat.23922.
|
|
Jiang, Yunsong;
Torun, Tugce;
Maffioletti, Sara M;
Serio, Andrea;
Tedesco, Francesco Saverio;
(2022)
Bioengineering human skeletal muscle models: Recent advances, current challenges and future perspectives.
Experimental Cell Research
, 416
(2)
, Article 113133. 10.1016/j.yexcr.2022.113133.
|
|
Jiang, H;
Yu, Y;
Li, L;
Xu, W;
(2021)
Exposure to the Great Famine in Early Life and the Risk of Obesity in Adulthood: A Report Based on the China Health and Nutrition Survey.
Nutrients
, 13
(4)
, Article 1285. 10.3390/nu13041285.
|
|
|
Jiang, X;
O'Reilly, PF;
Aschard, H;
Hsu, Y-H;
Richards, JB;
Dupuis, J;
Ingelsson, E;
... Kiel, DP; + view all
(2018)
Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
Nature Communications
, 9
, Article 260. 10.1038/s41467-017-02662-2.
|
|
|
Jin, B;
Krishnan, B;
Adler, S;
Wagstyl, K;
Hu, W;
Jones, S;
Najm, I;
... Wang, ZI; + view all
(2018)
Automated detection of focal cortical dysplasia type II with surface-based magnetic resonance imaging postprocessing and machine learning.
Epilepsia
, 59
(5)
pp. 982-992.
10.1111/epi.14064.
|
|
|
Johal, N;
Cao, K;
Arthurs, C;
Millar, M;
Thrasivoulou, C;
Ahmed, A;
Jabr, RI;
... Fry, CH; + view all
(2021)
Contractile function of detrusor smooth muscle from children with posterior urethral valves – the role of fibrosis.
Journal of Pediatric Urology
, 17
(1)
100.e1-100.e10.
10.1016/j.jpurol.2020.11.001.
|
|
Johannesen, KM;
Iqbal, S;
Guazzi, M;
Mohammadi, NA;
Pérez-Palma, E;
Schaefer, E;
De Saint Martin, A;
... Gardella, E; + view all
(2022)
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations.
Genetics in Medicine
, 24
(3)
pp. 681-693.
10.1016/j.gim.2021.11.004.
|
|
Johnson, EC;
Atkinson, P;
Muggeridge, A;
Cross, JH;
Reilly, C;
(2021)
Epilepsy in schools: Views on educational and therapeutic provision, understanding of epilepsy and seizure management.
Epilepsy & Behavior
, 122
, Article 108179. 10.1016/j.yebeh.2021.108179.
|
|
Johnson, Emma;
Atkinson, Patricia;
Muggeridge, Amy;
Cross, J Helen;
Reilly, Colin;
(2022)
Impact of epilepsy on learning and behaviour and needed supports: Views of children, parents and school staff.
European Journal of Paediatric Neurology
, 40
pp. 61-68.
10.1016/j.ejpn.2022.08.001.
|
|
Johnson, Emma;
Atkinson, Patricia;
Muggeridge, Amy;
Cross, J Helen;
Reilly, Colin;
(2021)
Inclusion and participation of children with epilepsy in schools: Views of young people, school staff and parents.
Seizure
, 93
pp. 34-43.
10.1016/j.seizure.2021.10.007.
|
|
Johnson, Emma C;
Atkinson, Patricia;
Muggeridge, Amy;
Chan, Samantha;
Helen Cross, J;
Reilly, Colin;
(2023)
Perceived impact of epilepsy on sleep: Views of children with epilepsy, parents and school staff.
Epilepsy and Behavior
, 138
, Article 109026. 10.1016/j.yebeh.2022.109026.
|
|
Johnson, EC;
Helen Cross, J;
Reilly, C;
(2020)
Physical activity in people with epilepsy: A systematic review.
Epilepsia
, 61
(6)
pp. 1062-1081.
10.1111/epi.16517.
|
|
Johnson, M;
Wagstaffe, HR;
Gilmour, KC;
Mai, AL;
Lewis, J;
Hunt, A;
Sirr, J;
... Goldblatt, D; + view all
(2020)
Evaluation of a novel multiplexed assay for determining IgG levels and functional activity to SARS-CoV-2.
Journal of Clinical Virology
, 130
, Article 104572. 10.1016/j.jcv.2020.104572.
|
|
|
Johnson, SM;
Standing, JF;
Klein, N;
Irwin, AD;
Shingadia, D;
Lonsdale, DO;
Gilmour, KC;
... Bamford, A; + view all
(2019)
A case for reduced frequency of CD4 count monitoring for children on combination antiretroviral therapy with consistently undetectable HIV viral load.
HIV Medicine
, 20
(4)
e8-e9.
10.1111/hiv.12706.
|
|
Johnson, W;
Norris, T;
Bann, D;
Cameron, N;
Wells, JK;
Cole, TJ;
Hardy, R;
(2020)
Differences in the relationship of weight to height, and thus the meaning of BMI, according to age, sex, and birth year cohort.
Annals of Human Biology
, 47
(2)
pp. 199-207.
10.1080/03014460.2020.1737731.
|
|
|
Jones, C;
Straathof, K;
Fouladi, M;
Hargrave, D;
Prados, M;
Resnick, A;
Doz, F;
... Mueller, S; + view all
(2023)
Evaluating preclinical evidence for clinical translation in childhood brain tumours: Guidelines from the CONNECT, PNOC, and ITCC brain networks.
Frontiers in Oncology
, 13
, Article 1167082. 10.3389/fonc.2023.1167082.
|
|
|
Jones, Christine E;
Bailey, Heather;
Bamford, Alasdair;
Calvert, Anna;
Dorey, Robert B;
Drysdale, Simon B;
Khalil, Asma;
... Wood, Sharon; + view all
(2022)
Managing challenges in congenital CMV: current thinking.
Archives of Disease in Childhood
10.1136/archdischild-2022-323809.
(In press).
|
|
Jones, L;
Moosajee, M;
(2021)
Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome.
British Journal of Ophthalmology
, 105
(11)
pp. 1604-1609.
10.1136/bjophthalmol-2020-317237.
|
|
Jones, RB;
Hiemstra, TF;
Ballarin, J;
Blockmans, DE;
Brogan, P;
Bruchfeld, A;
Cid, MC;
... European Vasculitis Study Group (EUVAS); + view all
(2019)
Mycophenolate mofetil versus cyclophosphamide for remission induction in ANCA-associated vasculitis: a randomised, non-inferiority trial.
Annals of the Rheumatic Diseases
, 78
(3)
pp. 399-405.
10.1136/annrheumdis-2018-214245.
|
|
|
Jones, SA;
Cheillan, D;
Chakrapani, A;
Church, HJ;
Heales, S;
Wu, THY;
Morton, G;
... Burlina, A; + view all
(2022)
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.
International Journal of Neonatal Screening
, 8
(1)
, Article 20. 10.3390/ijns8010020.
|
|
|
Jones, C;
Atkinson, P;
Cross, JH;
Reilly, C;
(2018)
Knowledge of and attitudes towards epilepsy among teachers: A systematic review.
Epilepsy & Behavior
, 87
pp. 59-68.
10.1016/j.yebeh.2018.06.044.
|
|
Jones, C;
Atkinson, P;
Memon, A;
Dabydeen, L;
Das, KB;
Cross, JH;
Gillberg, C;
... Reilly, C; + view all
(2019)
Experiences and needs of parents of young children with active epilepsy: A population-based study.
Epilepsy & Behavior
, 90
pp. 37-44.
10.1016/j.yebeh.2018.10.031.
|
|
Jones, DTW;
Kieran, MW;
Bouffet, E;
Alexandrescu, S;
Bandopadhayay, P;
Bornhorst, M;
Ellison, D;
... Packer, RJ; + view all
(2018)
Pediatric low-grade gliomas: Next biologically driven steps.
Neuro-Oncology
, 20
(2)
pp. 160-173.
10.1093/neuonc/nox141.
|
|
Jones, HF;
Morales-Briceño, H;
Barwick, K;
Lewis, J;
Sanchis-Juan, A;
Raymond, FL;
Stewart, K;
... Mohammad, SS; + view all
(2019)
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
[Letter].
Movement Disorders
10.1002/mds.27708.
(In press).
|
|
Jones, L;
Ditzel-Finn, L;
Enoch, J;
Moosajee, M;
(2021)
An overview of psychological and social factors in Charles Bonnet syndrome.
Therapeutic Advances in Ophthalmology
, 13
, Article 251584142110347. 10.1177/25158414211034715.
|
|
|
Jones, L;
Ditzel-Finn, L;
Potts, J;
Moosajee, M;
(2021)
Exacerbation of visual hallucinations in Charles Bonnet syndrome due to the social implications of COVID-19.
BMJ Open Ophthalmology
, 6
(1)
, Article e000670. 10.1136/bmjophth-2020-000670.
|
|
|
Jones, V;
Wykes, V;
Cohen, N;
Thompson, D;
Jacques, TS;
(2018)
The Pathology of Lumbosacral Lipomas: Macroscopic and Microscopic Disparity Have Implications for Embryogenesis and Mode of Clinical Deterioration.
Histopathology
, 72
(7)
pp. 1136-1144.
10.1111/his.13469.
|
|
Joshi, C;
Nickels, K;
Demarest, S;
Eltze, C;
Cross, JH;
Wirrell, E;
(2021)
Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome.
Seizure
, 85
pp. 12-18.
10.1016/j.seizure.2020.11.017.
|
|
Joubert, R;
Mariot, V;
Charpentier, M;
Concordet, JP;
Dumonceaux, J;
(2020)
Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?
Journal of Personalized Medicine
, 11
(1)
, Article 7. 10.3390/jpm11010007.
|
|
|
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2020)
A one-hour universal protocol for mouse genotyping.
Muscle and Nerve
, 61
(6)
pp. 801-807.
10.1002/mus.26841.
|
|
Joyeux, L;
Belfort, MA;
De Coppi, P;
Basurto, D;
Valenzuela, I;
King, A;
De Catte, L;
... Keswani, SG; + view all
(2021)
Complex gastroschisis: a new indication for fetal surgery?
Ultrasound in Obstetrics and Gynecology
, 58
(6)
pp. 804-812.
10.1002/uog.24759.
|
|
|
Joyeux, L;
van der Merwe, J;
Aertsen, M;
Patel, PA;
Khatoun, A;
da Cunha, MGMC Mori;
De Vleeschauwer, S;
... Deprest, J; + view all
(2023)
Neuroprotection is improved by watertightness of fetal spina bifida repair in the sheep model.
Ultrasound in Obstetrics and Gynecology
, 61
(1)
pp. 81-92.
10.1002/uog.24907.
|
|
Joyeux, Luc;
Basurto, David;
Bleeser, Tom;
Van der Veeken, Lennart;
Vergote, Simen;
Kunpalin, Yada;
Trigo, Lucas;
... Deprest, Jan; + view all
(2022)
Fetoscopic insufflation of heated-humidified carbon dioxide during simulated spina bifida repair is safe under controlled anesthesia in the fetal lamb.
Prenatal Diagnosis
, 42
(2)
pp. 180-191.
10.1002/pd.6093.
|
|
|
Joyeux, Luc;
Javaux, Allan;
Eastwood, Mary P;
De Bie, Felix R;
Van den Bergh, Gert;
Degliuomini, Rebecca S;
Vergote, Simen;
... Deprest, Jan; + view all
(2021)
Validation of a high-fidelity training model for fetoscopic spina bifida surgery.
Scientific Reports
, 11
, Article 6109. 10.1038/s41598-021-85607-6.
|
|
|
Joyeux, L;
De Bie, F;
Danzer, E;
Russo, FM;
Javaux, A;
Peralta, CFA;
De Salles, AAF;
... Deprest, J; + view all
(2020)
Learning curves of open and endoscopic fetal spina bifida closure: a systematic review and meta-analysis.
Ultrasound in Obstetrics and Gynecology
, 55
(6)
pp. 730-739.
10.1002/uog.20389.
|
|
Jungbluth, H;
Muntoni, F;
(2019)
Therapeutic Aspects in Congenital Myopathies.
Seminars in Pediatric Neurology
, 29
pp. 71-82.
10.1016/j.spen.2019.01.004.
|
|
|
Jungbluth, H;
Treves, S;
Zorzato, F;
Sarkozy, A;
Ochala, J;
Sewry, C;
Phadke, R;
... Muntoni, F; + view all
(2018)
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
[Review].
Nature Reviews Neurology
, 14
(3)
pp. 151-167.
10.1038/nrneurol.2017.191.
|
|
Jurkute, N;
D'Esposito, F;
Robson, AG;
Pitceathly, RDS;
Cordeiro, F;
Raymond, FL;
Moore, AT;
... Genomics England Research Consortium; + view all
(2021)
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Investigative Ophthalmology & Visual Science
, 62
(15)
, Article 12. 10.1167/iovs.62.15.12.
|
|
|
Jurkute, N;
Majander, A;
Bowman, R;
Votruba, M;
Abbs, S;
Acheson, J;
Lenaers, G;
... Yu-Wai-Man, P; + view all
(2019)
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
European Journal of Human Genetics
, 27
pp. 494-502.
10.1038/s41431-018-0235-y.
|
|
Jurkute, N;
Shanmugarajah, PD;
Hadjivassiliou, M;
Higgs, J;
Vojcic, M;
Horrocks, I;
Nadjar, Y;
... Genomics England Research Consortium, .; + view all
(2021)
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Investigative Ophthalmology & Visual Science
, 62
(6)
, Article 2. 10.1167/iovs.62.6.2.
|
|
K
|
Kadirvelu, Balasundaram;
Gavriel, Constantinos;
Nageshwaran, Sathiji;
Chan, Jackson Ping Kei;
Nethisinghe, Suran;
Athanasopoulos, Stavros;
Ricotti, Valeria;
... Faisal, A Aldo; + view all
(2023)
A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia.
Nature Medicine
, 29
(1)
pp. 86-94.
10.1038/s41591-022-02159-6.
|
|
Kaivola, K;
Chia, R;
Ding, J;
Rasheed, M;
Fujita, M;
Menon, V;
Walton, RL;
... Lopez, G; + view all
(2023)
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Cell Genomics
, 3
(6)
, Article 100316. 10.1016/j.xgen.2023.100316.
|
|
Kaiyrzhanov, Rauan;
Mohammed, Sami EM;
Maroofian, Reza;
Husain, Ralf A;
Catania, Alessia;
Torraco, Alessandra;
Alahmad, Ahmad;
... Houlden, Henry; + view all
(2022)
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
American Journal of Human Genetics
, 109
(9)
pp. 1692-1712.
10.1016/j.ajhg.2022.07.007.
|
|
Kalaskar, D;
(2021)
Fabrication of tissue-engineered tympanic membrane patches using 3D-Printing technology.
Journal of The Mechanical Behavior of Biomedical Materials
, 114
, Article 104219. 10.1016/j.jmbbm.2020.104219.
|
|
Kaliki, S;
Ji, X;
Zou, Y;
Rashid, R;
Sultana, S;
Taju Sherief, S;
Cassoux, N;
... Fabian, ID; + view all
(2021)
Lag Time between Onset of First Symptom and Treatment of Retinoblastoma: An International Collaborative Study of 692 Patients from 10 Countries.
Cancers
, 13
(8)
, Article 1956. 10.3390/cancers13081956.
|
|
|
Kalser, J;
Cross, JH;
(2018)
The epileptic encephalopathy jungle – from Dr West to the concepts of aetiology-related and developmental encephalopathies.
Current Opinion in Neurology
, 31
(2)
pp. 216-222.
10.1097/WCO.0000000000000535.
|
|
Kameda-Smith, Michelle;
James, Greg;
Seunarine, Kiran;
Rennie, Adam;
Robertson, Fergus;
Silva, Adikarige Haritha Dulanka;
(2023)
Paediatric subarachnoid haemorrhage and severe vasospasm secondary to traumatic pseudoaneurysm of a fenestrated vertebral artery: a case report and review of the literature.
Child's Nervous System
10.1007/s00381-023-05894-4.
(In press).
|
|
|
Kanai, M;
Andrews, SJ;
Cordioli, M;
Stevens, C;
Neale, BM;
Daly, M;
Ganna, A;
... O’Connell, J; + view all
(2023)
A second update on mapping the human genetic architecture of COVID-19.
Nature
, 621
(7977)
E7-E26.
10.1038/s41586-023-06355-3.
|
|
Kane, AD;
Armstrong, RA;
Kursumovic, E;
Cook, TM;
Oglesby, FC;
Cortes, L;
Moppett, IK;
... Soar, J; + view all
(2022)
Methods of the 7th National Audit Project (NAP7) of the Royal College of Anaesthetists: peri-operative cardiac arrest.
Anaesthesia
10.1111/anae.15856.
(In press).
|
|
Kane, Zoe;
Cheng, Iek;
McGarrity, Orlagh;
Chiesa, Robert;
Klein, Nigel;
Cortina-Borja, Mario;
Standing, Joseph F;
(2023)
Model Based Estimation of Posaconazole Tablet and Suspension Bioavailability in Hospitalized Children Using Real-World Therapeutic Drug Monitoring Data in Patients Receiving Intravenous and Oral Dosing.
Antimicrobial Agents and Chemotherapy
, 67
(7)
, Article e0007723. 10.1128/aac.00077-23.
|
|
Kane, Z;
Gastine, S;
Obiero, C;
Williams, P;
Murunga, S;
Thitiri, J;
Ellis, S;
... Standing, JF; + view all
(2021)
IV and oral fosfomycin pharmacokinetics in neonates with suspected clinical sepsis.
Journal of Antimicrobial Chemotherapy
10.1093/jac/dkab083.
(In press).
|
|
|
Kania, Soumya P;
Silva, Juliana MF;
Charles, Oscar J;
Booth, John;
Cheung, SY Amy;
Yates, James WT;
Worth, Austen;
... Standing, Joseph F; + view all
(2022)
Epstein-Barr Virus Reactivation After Paediatric Haematopoietic Stem Cell Transplantation: Risk Factors and Sensitivity Analysis of Mathematical Model.
Frontiers in Immunology
, 13
, Article 903063. 10.3389/fimmu.2022.903063.
|
|
|
Kanthimathinathan, HK;
Buckley, H;
Davis, PJ;
Feltbower, RG;
Lamming, C;
Norman, L;
Palmer, L;
... Draper, ES; + view all
(2021)
In the eye of the storm: impact of COVID-19 pandemic on admission patterns to paediatric intensive care units in the UK and Eire.
Critical Care
, 25
(1)
, Article 399. 10.1186/s13054-021-03779-z.
|
|
|
Kanthimathinathan, HK;
Peters, MJ;
(2018)
Focus on paediatrics 2018.
Intensive Care Medicine
, 44
(12)
pp. 2267-2270.
10.1007/s00134-018-5421-4.
|
|
Kappen, P;
Eltze, C;
Tisdall, M;
Cross, JH;
Thornton, R;
Moeller, F;
(2020)
Stereo-EEG exploration in the insula/operculum in paediatric patients with refractory epilepsy.
Seizure
, 78
pp. 63-70.
10.1016/j.seizure.2020.02.011.
|
|
Karda, R;
Counsell, JR;
Karbowniczek, K;
Caproni, LJ;
Tite, JP;
Waddington, N;
(2019)
Production of lentiviral vectors using novel, enzymatically-produced, linear DNA vectors.
Gene Therapy
, 26
pp. 86-92.
10.1038/s41434-018-0056-1.
|
|
Kari, JA;
Alhasan, KA;
Albanna, AS;
Safder, OY;
Shalaby, M;
Bockenhauer, D;
El-Desoky, SM;
(2020)
Rituximab versus cyclophosphamide as first steroid sparing agent in childhood frequently relapsing and steroid dependent nephrotic syndrome.
Pediatric Nephrology
, 35
pp. 1445-1453.
10.1007/s00467-020-04570-y.
|
|
Kariuki, Symon M;
Wagner, Ryan G;
Gunny, Roxana;
D'Arco, Felice;
Kombe, Martha;
Ngugi, Anthony K;
White, Steven;
... Newton, Charles RJC; + view all
(2024)
Magnetic Resonance Imaging Findings in Kenyans and South Africans with Active Convulsive Epilepsy: An Observational Study.
Epilepsia
, 65
(1)
pp. 165-176.
10.1111/epi.17829.
|
|
Kaski, JP;
Chivers, S;
(2019)
Rare diseases hiding in the cardiomyopathy clinic - The importance of seeing and observing.
International Journal of Cardiology
, 276
pp. 36-37.
10.1016/j.ijcard.2018.11.118.
|
|
Kasparian, NA;
Kan, JM;
Sood, E;
Wray, J;
Pincus, HA;
Newburger, JW;
(2019)
Mental health care for parents of babies with congenital heart disease during intensive care unit admission: Systematic review and statement of best practice.
Early Human Development
, 139
, Article 104837. 10.1016/j.earlhumdev.2019.104837.
|
|
Katchburian, LR;
Oulton, K;
Main, E;
Morris, C;
Carr, LJ;
(2021)
Protocol for The Toxin Study: Understanding clinical and patient reported response of children and young people with cerebral palsy to intramuscular lower limb Botulinum neurotoxin-A injections, exploring all domains of the ICF. A pragmatic longitudinal observational study using a prospective one-group repeated measures design.
BMJ Open
, 11
(4)
, Article e049542. 10.1136/bmjopen-2021-049542.
|
|
|
Katus, Laura;
Milosavljevic, Bosiljka;
Rozhko, Maria;
McCann, Samantha;
Mason, Luke;
Mbye, Ebrima;
Touray, Ebou;
... de Haan, Michelle; + view all
(2022)
Neural Marker of Habituation at 5 Months of Age Associated with Deferred Imitation Performance at 12 Months: A Longitudinal Study in the UK and The Gambia.
Children
, 9
(7)
, Article 988. 10.3390/children9070988.
|
|
Katus, L;
Mason, L;
Milosavljevic, B;
McCann, S;
Rozhko, M;
Moore, SE;
Elwell, CE;
... BRIGHT project team; + view all
(2020)
ERP markers are associated with neurodevelopmental outcomes in 1–5 month old infants in rural Africa and the UK.
NeuroImage
, 210
, Article 116591. 10.1016/j.neuroimage.2020.116591.
|
|
|
Kaur, B;
Sebire, NJ;
(2018)
p57KIP2 immunostaining for diagnosis of hydatidiform mole.
BJOG
10.1111/1471-0528.15330.
|
|
Kawadler, JM;
Slee, A;
Stotesbury, H;
Koelbel, M;
Balfour, P;
Saunders, DE;
Rees, D;
... Liossi, C; + view all
(2019)
Index of Pain Experience in Sickle Cell Anaemia (IPESCA): development from daily pain diaries and initial findings from use with children and adults with sickle cell anaemia.
British Journal of Haematology
, 186
(2)
pp. 360-363.
10.1111/bjh.15841.
|
|
Keane, MG;
Kumar, M;
Cieplik, N;
Thorburn, D;
Johnson, GJ;
Webster, GJ;
Chapman, MH;
... Pereira, SP; + view all
(2018)
Paediatric pancreaticobiliary endoscopy: a 21-year experience from a tertiary hepatobiliary centre and systematic literature review.
BMC Pediatrics
, 18
, Article 42. 10.1186/s12887-017-0959-9.
|
|
|
Keatley, K;
Stromei-Cleroux, S;
Wiltshire, T;
Rajala, N;
Burton, G;
Holt, WV;
Littlewood, DTJ;
... McGeehan, RE; + view all
(2019)
Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma.
MDPI — IJMS
, 20
(13)
, Article 3364. 10.3390/ijms20133364.
|
|
|
Keddie, S;
Ziff, O;
Chou, MKL;
Taylor, RL;
Heslegrave, A;
Garr, E;
Lakdawala, N;
... Lunn, MP; + view all
(2020)
Laboratory biomarkers associated with COVID-19 severity and management.
Clinical Immunology
, 221
, Article 108614. 10.1016/j.clim.2020.108614.
|
|
Kelly, Eleanor;
Choi, En-min;
Petrushkin, Harry;
Kellett, Salomey;
Solebo, Ameenat Lola;
(2023)
Recognising and managing childhood onset uveitis: a guide for primary care.
British Journal of General Practice
, 73
(735)
pp. 475-477.
10.3399/bjgp23x735225.
|
|
Kennedy, J;
Hembry, P;
Green, D;
Skuse, D;
Lewis, S;
(2020)
Predictors of change in global psychiatric functioning at an inpatient adolescent psychiatric unit: A decade of experience.
Clinical Child Psychology and Psychiatry
, 25
(2)
pp. 471-482.
10.1177/1359104519898215.
|
|
|
Kenten, C;
Ngwenya, N;
Gibson, F;
Flatley, M;
Jones, L;
Pearce, S;
Wong, G;
... Whelan, J; + view all
(2019)
Understanding care when cure is not likely for young adults who face cancer: a realist analysis of data from patients, families and healthcare professionals.
BMJ Open
, 9
(1)
, Article e024397. 10.1136/bmjopen-2018-024397.
|
|
|
Kenten, C;
Wray, J;
Gibson, F;
Russell, J;
Tuffrey-Wijne, I;
Oulton, K;
(2019)
To flag or not to flag: Identification of children and young people with learning disabilities in English hospitals.
Journal of Applied Research in Intellectual Disabilities
10.1111/jar.12608.
(In press).
|
|
|
Keshavan, N;
Minczuk, M;
Viscomi, C;
Rahman, S;
(2024)
Gene therapy for mitochondrial disorders.
Journal of Inherited Metabolic Disease
, 47
(1)
pp. 145-175.
10.1002/jimd.12699.
|
|
Keshavan, N;
Abdenur, J;
Anderson, G;
Assouline, Z;
Barcia, G;
Bouhikbar, L;
Chakrapani, A;
... Rahman, S; + view all
(2020)
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genetics in Medicine
, 22
pp. 199-209.
10.1038/s41436-019-0613-z.
|
|
Keshavan, N;
Rahman, S;
(2018)
Natural history of mitochondrial disorders: a systematic review.
Essays In Biochemistry
, 62
(3)
pp. 423-442.
10.1042/EBC20170108.
|
|
Keskin-Erdogan, Z;
Patel, KD;
Chau, DYS;
Day, RM;
Kim, H-W;
Knowles, JC;
(2021)
Utilization of GelMA with phosphate glass fibers for glial cell alignment.
Journal of Biomedical Materials Research Part A
10.1002/jbm.a.37206.
(In press).
|
|
|
Keylock, A;
Hong, Y;
Saunders, D;
Omoyinmi, E;
Mulhern, C;
Roebuck, D;
Brogan, P;
... Eleftheriou, D; + view all
(2017)
Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11.
Neurology
10.1212/WNL.0000000000004828.
|
|
|
Khabirova, E;
Jardine, L;
Coorens, THH;
Webb, S;
Treger, TD;
Engelbert, J;
Porter, T;
... Behjati, S; + view all
(2022)
Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia.
Nature Medicine
10.1038/s41591-022-01720-7.
|
|
Khalil, Youssef;
Footitt, Emma;
Vootukuri, Reddy;
Wempe, Michael F;
Coughlin, Curtis R;
Batzios, Spyros;
Wilson, Matthew P;
... Mills, Philippa B; + view all
(2024)
Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
Journal of Inherited Metabolic Disease
10.1002/jimd.12783.
(In press).
|
|
Khan, M;
Chari, A;
Seunarine, K;
Eltze, C;
Moeller, F;
D'Arco, F;
Thornton, R;
... Tisdall, MM; + view all
(2022)
Proportion of resected seizure onset zone contacts in pediatric stereo-EEG-guided resective surgery does not correlate with outcome.
Clinical Neurophysiology
, 138
pp. 18-24.
10.1016/j.clinph.2022.03.012.
|
|
Khan, H;
Coupland, SE;
Moosajee, M;
(2018)
Women in Vision UK strive for gender equality in ophthalmology and vision sciences.
[Editorial comment].
Therapeutic Advances in Ophthalmology
, 10
(1-3)
10.1177/2515841418774434.
|
|
|
Khan, H;
Moosajee, M;
(2018)
Facing up to gender inequality in ophthalmology and vision science.
Eye
, 32
(9)
pp. 1421-1422.
10.1038/s41433-018-0147-7.
|
|
|
Khan, K;
Hollis, C;
Hall, CL;
Davies, EB;
Mataix-Cols, D;
Andrén, P;
Murphy, T;
... Glazebrook, C; + view all
(2020)
Protocol for the Process Evaluation of the Online Remote Behavioural Intervention for Tics (ORBIT) randomized controlled trial for children and young people.
Trials
, 21
(1)
, Article 6. 10.1186/s13063-019-3974-3.
|
|
|
Khan, K;
Hollis, C;
Hall, CL;
Murray, E;
Davies, EB;
Andrén, P;
Mataix-Cols, D;
... Glazebrook, C; + view all
(2021)
Fidelity of delivery and contextual factors influencing children’s level of engagement: Process evaluation of the Online Remote Behavioural Intervention for Tics (ORBIT) Trial (Preprint).
Journal of Medical Internet Research
10.2196/25470.
(In press).
|
|
|
Khan, M;
Arno, G;
Fakin, A;
Parfitt, DA;
Dhooge, PPA;
Albert, S;
Bax, NM;
... Collin, RWJ; + view all
(2020)
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Molecular Therapy: Nucleic Acids
, 21
pp. 412-427.
10.1016/j.omtn.2020.06.007.
|
|
|
Khaosut, P;
Pilkington, C;
Wedderburn, LR;
Compeyrot-Lacassagne, S;
(2019)
An international survey of developing classification criteria for juvenile dermatomyositis-scleroderma overlap.
Rheumatology
, 58
(11)
pp. 2062-2064.
10.1093/rheumatology/kez226.
|
|
Kiff, S;
Babb, C;
Guemes, M;
Dastamani, A;
Gilbert, C;
Flanagan, SE;
Ellard, S;
... Shah, P; + view all
(2019)
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.
Endocrinology, Diabetes and Metabolism Case Reports
, 2019
(1)
10.1530/EDM-18-0120.
|
|
|
Kilburn, LB;
Khuong-Quang, DA;
Hansford, JR;
Landi, D;
van der Lugt, J;
Leary, SES;
Driever, PH;
... Nysom, K; + view all
(2023)
The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial.
Nature Medicine
10.1038/s41591-023-02668-y.
(In press).
|
|
Kildisiute, G;
Kholosy, WM;
Young, MD;
Roberts, K;
Elmentaite, R;
van Hooff, SR;
Pacyna, CN;
... Behjati, S; + view all
(2021)
Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell.
Science Advances
, 7
(6)
, Article eabd3311. 10.1126/sciadv.abd3311.
|
|
Kim, Hong Joo;
Mohassel, Payam;
Donkervoort, Sandra;
Guo, Lin;
O'Donovan, Kevin;
Coughlin, Maura;
Lornage, Xaviere;
... Taylor, J Paul; + view all
(2022)
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nature Communications
, 13
, Article 2306. 10.1038/s41467-022-30015-1.
|
|
Kim, NN;
Abdel-Mannan, O;
Davidson, J;
Du Pre, P;
Kneen, R;
Mankad, K;
Hacohen, Y;
(2023)
Leigh syndrome mimicking neuromyelitis optica spectrum disorder (NMOSD).
Multiple Sclerosis Journal
, 29
(7)
pp. 889-892.
10.1177/13524585231172950.
|
|
Kim, A;
Grover, A;
Hammon, K;
de Hart, G;
Slasor, P;
Cherukuri, A;
Ajayi, T;
... Henshaw, JW; + view all
(2020)
Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration.
Clinical and Translational Science
10.1111/cts.12925.
(In press).
|
|
|
Kim, J;
Aschard, H;
Kang, JH;
Lentjes, MA;
Do, R;
Wiggs, JL;
Khawaja, AP;
... Modifiable Risk Factors for Glaucoma Collaboration; + view all
(2020)
Intraocular pressure, glaucoma and dietary caffeine consumption: a gene-diet interaction study from the UK Biobank.
Ophthalmology
10.1016/j.ophtha.2020.12.009.
(In press).
|
|
|
Kim, J;
Lana, B;
Torelli, S;
Ryan, D;
Catapano, F;
Ala, P;
Luft, C;
... Lin, Y-Y; + view all
(2019)
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.
EMBO Reports
, 20
(11)
, Article e47967. 10.15252/embr.201947967.
|
|
|
Kimberlin, David W;
Aban, Inmaculada;
Peri, Kalyani;
Nishikawa, Javier K;
Bernatoniene, Jolanta;
Emonts, Marieke;
Klein, Nigel;
... Collaborative Antiviral Study Group (CASG; + view all
(2024)
Oral Valganciclovir Initiated Beyond 1 Month of Age as Treatment of Sensorineural Hearing Loss Caused by Congenital Cytomegalovirus Infection: A Randomized Clinical Trial.
The Journal of Pediatrics
, 268
, Article 113934. 10.1016/j.jpeds.2024.113934.
|
|
King, AJ;
Hudson, J;
Fernie, G;
Kernohan, A;
Azuara-Blanco, A;
Burr, J;
Homer, T;
... TAGS Study Group; + view all
(2021)
Primary trabeculectomy for advanced glaucoma: pragmatic multicentre randomised controlled trial (TAGS).
BMJ
, 373
, Article n1014. 10.1136/bmj.n1014.
(In press).
|
|
|
King, C;
Boyd, N;
Walker, I;
Zadutsa, B;
Baqui, AH;
Ahmed, S;
Islam, M;
... McCollum, ED; + view all
(2018)
Opportunities and barriers in paediatric pulse oximetry for pneumonia in low-resource clinical settings: a qualitative evaluation from Malawi and Bangladesh.
BMJ Open
, 8
(1)
, Article e019177. 10.1136/bmjopen-2017-019177.
|
|
|
King, C;
Mvalo, T;
Sessions, K;
Wilson, I;
Walker, I;
Zadutsa, B;
Makwenda, C;
... McCollum, ED; + view all
(2019)
Performance of a novel reusable pediatric pulse oximeter probe.
Pediatric Pulmonology
, 54
(7)
pp. 1052-1059.
10.1002/ppul.24295.
|
|
|
King, M;
Ramnarayan, P;
Seaton, S;
Pagel, A;
(2019)
Modelling the allocation of paediatric intensive care retrieval teams in England and Wales.
Archives of Disease in Childhood
10.1136/archdischild-2018-316056.
(In press).
|
|
|
Kinsler, V;
Boccara, O;
Fraitag, S;
Torrelo, A;
Vabres, P;
Diociauti, A;
(2020)
Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin).
British Journal of Dermatology
, 182
(3)
pp. 552-563.
10.1111/bjd.17924.
|
|
Kirkham, Fenella J;
Clayden, Jonathan D;
Stotesbury, Hanne;
Kawadler, Jamie M;
Slee, April;
Koelbel, Melanie;
Saunders, Dawn E;
... Clark, Chris A; + view all
(2023)
Structural connectivity mediates the relationship between blood oxygenation and cognitive function in sickle cell anemia.
Blood Advances
, 7
(11)
pp. 2297-2308.
10.1182/bloodadvances.2021006751.
|
|
Kirkham, FJ;
Kawadler, JM;
Clark, CA;
Hales, PW;
Cox, TS;
Barker, S;
(2018)
Cerebral perfusion characteristics show differences in younger vs. older children with sickle cell anaemia: results from a multiple inflow time arterial spin labelling study.
NMR in Biomedicine
, 31
(6)
10.1002/nbm.3915.
|
|
Kirkman, MA;
Pickles, JC;
Fairchild, AR;
Avery, A;
Pietsch, T;
Jacques, TS;
Aquilina, K;
(2018)
Early Wound Site Seeding in a Patient with Central Nervous System High-Grade Neuroepithelial Tumor with BCOR Alteration.
World Neurosurgery
, 116
pp. 279-284.
10.1016/j.wneu.2018.05.158.
|
|
Kirschner, J;
Butoianu, N;
Goemans, N;
Haberlova, J;
Kostera-Pruszczyk, A;
Mercuri, E;
van der Pol, WL;
... Muntoni, F; + view all
(2020)
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.
European Journal of Paediatric Neurology
10.1016/j.ejpn.2020.07.001.
(In press).
|
|
|
Kissoon, N;
Tissieres, P;
Weiss, SL;
Peters, MJ;
Inwald, DP;
(2020)
The authors reply.
Pediatric Critical Care Medicine
, 21
(9)
pp. 853-854.
10.1097/PCC.0000000000002442.
|
|
Kit, V;
Lima Cunha, D;
Hagag, AM;
Moosajee, M;
(2021)
Longitudinal genotype-phenotype analysis in 86 PAX6-related aniridia patients.
JCI Insight
, 6
(14)
, Article e148406. 10.1172/jci.insight.148406.
|
|
Kite, Kerry Anne;
Loomba, Sahil;
Elliott, Thomas J;
Yongblah, Francis;
Lightbown, Shanda L;
Doyle, Thomas J;
Gates, Lily;
... Cloutman-Green, Elaine; + view all
(2022)
FcMBL magnetic bead-based MALDI-TOF MS rapidly identifies paediatric blood stream infections from positive blood cultures.
PLOS ONE
, 17
(11)
, Article e0276777. 10.1371/journal.pone.0276777.
|
|
Kittler, NW;
Mathes, EF;
Kinsler, V;
Frieden, IJ;
(2019)
The biker-glove pattern of congenital melanocytic nevi.
Pediatric Dermatology
, 36
(6)
pp. 918-921.
10.1111/pde.13939.
|
|
Klapwijk, JE;
Srebniak, MI;
Go, ATJI;
Govaerts, LCP;
Lewis, C;
Hammond, J;
Hill, M;
... Riedijk, SR; + view all
(2021)
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Clinical Genetics
10.1111/cge.14010.
(In press).
|
|
|
Klatt, D;
Cheng, E;
Hoffmann, D;
Santilli, G;
Thrasher, AJ;
Brendel, C;
Schambach, A;
(2020)
Differential Transgene Silencing of Myeloid-Specific Promoters in the AAVS1 Safe Harbor Locus of Induced Pluripotent Stem Cell-Derived Myeloid Cells.
Human Gene Therapy
, 31
(3-4)
pp. 199-210.
10.1089/hum.2019.194.
|
|
Klatt, D;
Cheng, E;
Philipp, F;
Selich, A;
Dahlke, J;
Schmidt, RE;
Schott, JW;
... Schambach, A; + view all
(2019)
Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.
Stem Cell Reports
, 13
(4)
pp. 590-598.
10.1016/j.stemcr.2019.08.008.
|
|
|
Klemann, C;
Camacho-Ordonez, N;
Yang, L;
Eskandarian, Z;
Rojas-Restrepo, JL;
Frede, N;
Bulashevska, A;
... Grimbacher, B; + view all
(2019)
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Frontiers in Immunology
, 10
, Article 297. 10.3389/fimmu.2019.00297.
|
|
|
Kloprogge, F;
Abubakar, I;
Esmail, H;
Hack, V;
Kunst, H;
McHugh, TD;
Noursadeghi, M;
... Lipman, M; + view all
(2021)
Exploring a combined biomarker for tuberculosis treatment response: protocol for a prospective observational cohort study.
BMJ Open
, 11
(7)
, Article e052885. 10.1136/bmjopen-2021-052885.
|
|
|
Kloprogge, F;
Hill, LF;
Booth, J;
Klein, N;
Irwin, A;
Dixon, G;
Standing, JF;
(2019)
Revising paediatric vancomycin dosing accounting for nephrotoxicity in a pharmacokinetic-pharmacodynamic model.
Antimicrobial Agents and Chemotherapy
10.1128/AAC.00067-19.
(In press).
|
|
|
Knight, DS;
Kotecha, T;
Martinez-Naharro, A;
Brown, JT;
Bertelli, M;
Fontana, M;
Muthurangu, V;
(2019)
Cardiovascular magnetic resonance-guided right heart catheterization in a conventional CMR environment - predictors of procedure success and duration in pulmonary artery hypertension.
Journal of Cardiovascular Magnetic Resonance
, 21
(1)
, Article 57. 10.1186/s12968-019-0569-9.
|
|
|
Knight, DS;
Zumbo, G;
Barcella, W;
Steeden, JA;
Muthurangu, V;
Martinez-Naharro, A;
Treibel, TA;
... Fontana, M; + view all
(2019)
Cardiac Structural and Functional Consequences of Amyloid Deposition by Cardiac Magnetic Resonance and Echocardiography and Their Prognostic Roles.
JACC Cardiovascular Imaging
, 12
(5)
pp. 823-833.
10.1016/j.jcmg.2018.02.016.
|
|
Knights, H;
Minas, E;
Khan, F;
Shaw, L;
Al Obaidi, M;
Mankad, K;
Eleftheriou, D;
(2021)
Magnetic resonance imaging findings in children with Parry-Romberg syndrome and en coup de sabre.
Pediatric Rheumatology
, 19
, Article 42. 10.1186/s12969-021-00512-6.
|
|
|
Knoops, PGM;
Borghi, A;
Breakey, R;
Ong, J;
Jeelani, O;
Bruun, R;
Schievano, S;
... Padwa, B; + view all
(2019)
Three-dimensional soft tissue prediction in orthognathic surgery: a clinical comparison of Dolphin, ProPlan CMF, and probabilistic finite element modelling.
International Journal of Oral and Maxillofacial Surgery
10.1016/j.ijom.2018.10.008.
(In press).
|
|
|
Knoops, PGM;
Borghi, A;
Ruggiero, F;
Badiali, G;
Bianchi, A;
Marchetti, C;
Rodriguez-Florez, N;
... Schievano, S; + view all
(2018)
A novel soft tissue prediction methodology for orthognathic surgery based on probabilistic finite element modelling.
PLoS One
, 13
(5)
, Article e0197209. 10.1371/journal.pone.0197209.
|
|
|
Knoops, PGM;
Papaioannou, A;
Borghi, A;
Breakey, RWF;
Wilson, AT;
Jeelani, O;
Zafeiriou, S;
... Schievano, S; + view all
(2019)
A machine learning framework for automated diagnosis and computer-assisted planning in plastic and reconstructive surgery.
Scientific Reports
, 9
(1)
, Article 13597. 10.1038/s41598-019-49506-1.
|
|
|
Knöpfel, Nicole;
Zecchin, Davide;
Richardson, Hanna;
Polubothu, Satyamaanasa;
Barberan-Martin, Sara;
Cullup, Thomas;
Gholam, Karolina;
... Kinsler, Veronica A; + view all
(2023)
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Journal of Investigative Dermatology
10.1016/j.jid.2023.09.008.
(In press).
|
|
Knowles, Rachel L;
Solebo, Ameenat Lola;
Sampaio, Mariana Autran;
Brown, Charlotte Rebecca;
Sargent, Jenefer;
Oluonye, Ngozi;
Rahi, Jugnoo;
(2022)
Incidence, aetiology and neurodisability associated with severe microcephaly: a national surveillance study.
Archives of Disease in Childhood
10.1136/archdischild-2022-324311.
(In press).
|
|
Knowles, R;
Ridout, D;
Crowe, S;
Bull, C;
Wray, J;
Tregay, J;
Franklin, RC;
... Brown, KL; + view all
(2019)
Ethnic-specific mortality of infants undergoing congenital heart surgery in England and Wales.
Archives of Disease in Childhood
(In press).
|
|
|
Knuiman, GJ;
Kusters, B;
Eshuis, L;
Snoeck, M;
Lammens, M;
Heytens, L;
De Ridder, W;
... Voermans, NC; + view all
(2019)
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Journal of Neurology
, 266
(4)
pp. 876-887.
10.1007/s00415-019-09209-z.
|
|
|
Koelble, K;
Cross, JH;
Becker, A;
Bluemcke, I;
(2018)
A web-based diagnostic reference centre for the European Reference Network "EpiCare": recommendations of the eNeuropathology working group.
Epileptic Disorders
, 20
(5)
pp. 339-345.
10.1684/epd.2018.1002.
|
|
Koene, S;
van Bon, L;
Bertini, E;
Jimenez-Moreno, C;
van der Giessen, L;
de Groot, I;
McFarland, R;
... Smeitink, J; + view all
(2018)
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.
Journal of Inherited Metabolic Disease
, 41
(6)
pp. 1267-1273.
10.1007/s10545-018-0229-5.
|
|
|
Koens, Lisette H;
Klamer, Marrit R;
Sival, Deborah A;
Balint, Bettina;
Bhatia, Kailash P;
Contarino, Maria Fiorella;
van Egmond, Martje E;
... Tijssen, Marina AJ; + view all
(2023)
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Movement Disorders
10.1002/mds.29332.
(In press).
|
|
Kohn, DB;
Booth, C;
Kang, EM;
Pai, S-Y;
Shaw, KL;
Santilli, G;
Armant, M;
... the Net4CGD consortium; + view all
(2020)
Lentiviral gene therapy for X-linked chronic granulomatous disease.
Nature Medicine
, 26
pp. 200-206.
10.1038/s41591-019-0735-5.
|
|
Kolev, M;
West, EE;
Kunz, N;
Chauss, D;
Moseman, EA;
Rahman, J;
Freiwald, T;
... Kemper, C; + view all
(2020)
Diapedesis-Induced Integrin Signaling via LFA-1 Facilitates Tissue Immunity by Inducing Intrinsic Complement C3 Expression in Immune Cells.
Immunity
, 52
(3)
513-527.e8.
10.1016/j.immuni.2020.02.006.
|
|
Komulainen-Ebrahim, Jonna;
Kangas, Salla M;
López-Martín, Estrella;
Feyma, Timothy;
Scaglia, Fernando;
Martínez-Delgado, Beatriz;
Kuismin, Outi;
... Uusimaa, Johanna; + view all
(2024)
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Movement Disorders Clinical Practice
10.1002/mdc3.14051.
(In press).
|
|
|
Konrad, M;
Nijenhuis, T;
Ariceta, G;
Bertholet-Thomas, A;
Calo, LA;
Capasso, G;
Emma, F;
... Bockenhauer, D; + view all
(2021)
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Kidney International
, 99
(2)
pp. 324-335.
10.1016/j.kint.2020.10.035.
|
|
|
Koo, MM;
Lyratzopoulos, G;
Herbert, A;
Abel, GA;
Taylor, RM;
Barber, JA;
Gibson, F;
... Fern, LA; + view all
(2020)
Association of Self-reported Presenting Symptoms With Timeliness
of Help-Seeking Among Adolescents and Young Adults With Cancer
in the BRIGHTLIGHT Study.
JAMA Network Open
, 3
(9)
, Article e2015437. 10.1001/jamanetworkopen.2020.15437.
|
|
|
Korbonits, Márta;
Blair, Joanne C;
Boguslawska, Anna;
Ayuk, John;
Davies, Justin H;
Druce, Maralyn R;
Evanson, Jane;
... Spoudeas, Helen A; + view all
(2024)
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.
Nature Reviews Endocrinology
, 20
pp. 278-289.
10.1038/s41574-023-00948-8.
|
|
Korbonits, Márta;
Blair, Joanne C;
Boguslawska, Anna;
Ayuk, John;
Davies, Justin H;
Druce, Maralyn R;
Evanson, Jane;
... Spoudeas, Helen A; + view all
(2024)
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
Nature Reviews Endocrinology
, 20
pp. 290-304.
10.1038/s41574-023-00949-7.
|
|
Korenblum, C;
Craig, F;
(2021)
Adolescents and young adults.
In: Hain, R and Goldman, A and Rapoport, A and Meiring, M, (eds.)
Oxford Textbook of Palliative Care for Children.
Oxford University Press: Oxford, UK.
|
|
Korot, E;
Gonçalves, MB;
Khan, SM;
Struyven, R;
Wagner, SK;
Keane, PA;
(2021)
Clinician-driven artificial intelligence in ophthalmology: resources enabling democratization.
Current Opinion in Ophthalmology
, 32
(5)
pp. 445-451.
10.1097/ICU.0000000000000785.
|
|
Kostopoulou, E;
Dastamani, A;
Güemes, M;
Clement, E;
Caiulo, S;
Shanmugananda, P;
Dattani, M;
... Shah, P; + view all
(2021)
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study.
Clinical Endocrinology
, 94
(3)
pp. 399-412.
10.1111/cen.14393.
|
|
Kotecha, T;
Knight, DS;
Moon, JC;
Cole, GD;
Fontana, M;
(2021)
The evolution of cardiovascular COVID-19 research.
European Heart Journal
, 42
(30)
pp. 2953-2954.
10.1093/eurheartj/ehab240.
|
|
Kotecha, T;
Monteagudo, JM;
Martinez-Naharro, A;
Chacko, L;
Brown, J;
Knight, D;
Knott, KD;
... Fontana, M; + view all
(2021)
Quantitative cardiovascular magnetic resonance myocardial perfusion mapping to assess hyperaemic response to adenosine stress.
European Heart Journal - Cardiovascular Imaging
, 22
(3)
pp. 273-281.
10.1093/ehjci/jeaa252.
|
|
Kousathanas, Athanasios;
Pairo-Castineira, Erola;
Rawlik, Konrad;
Stuckey, Alex;
Odhams, Christopher A;
Walker, Susan;
Russell, Clark D;
... Baillie, J Kenneth; + view all
(2022)
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Nature
, 607
pp. 97-103.
10.1038/s41586-022-04576-6.
|
|
Kowalik, GT;
Knight, D;
Steeden, JA;
Muthurangu, V;
(2019)
Perturbed spiral real-time phase-contrast MR with compressive sensing reconstruction for assessment of flow in children.
Magnetic Resonance in Medicine
10.1002/mrm.28065.
(In press).
|
|
|
Kowalik, GT;
Steeden, J;
Atkinson, D;
Montalt-Tordera, J;
Mortenson, KH;
Muthurangu, V;
(2019)
Golden ratio stack of spirals for flexible angiographic imaging: Proof of concept in congenital heart disease.
Magnetic Resonance in Medicine
, 81
(1)
pp. 90-101.
10.1002/mrm.27353.
|
|
Kozicz, Tamas;
Rahman, Shamima;
Morava, Eva;
(2022)
The doxycycline paradox in primary mitochondrial diseases.
Journal of Inherited Metabolic Disease
, 45
(4)
pp. 659-660.
10.1002/jimd.12531.
|
|
Kreins, Alexandra Y;
Roux, Emma;
Pang, Juanita;
Cheng, Iek;
Charles, Oscar;
Roy, Sunando;
Mohammed, Reem;
... Breuer, Judith; + view all
(2024)
Favipiravir induces HuNoV viral mutagenesis and infectivity loss with clinical improvement in immunocompromised patients.
Clinical Immunology
, Article 109901. 10.1016/j.clim.2024.109901.
|
|
Kreins, Alexandra Y;
Worth, Austen;
Ghosh, Sujal;
Mohammed, Reem W;
Davies, E Graham;
(2023)
First Use of Thymus Transplantation in PAX1 Deficiency.
Journal of Clinical Immunology
, 43
pp. 1127-1130.
10.1007/s10875-023-01478-8.
|
|
Kreins, AY;
Maio, S;
Dhalla, F;
(2021)
Inborn errors of thymic stromal cell development and function.
Seminars in Immunopathology
, 43
pp. 85-100.
10.1007/s00281-020-00826-9.
|
|
Kreins, AY;
Velasco, HF;
Cheong, K-N;
Rao, K;
Veys, P;
Worth, A;
Gaspar, HB;
(2021)
Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience.
Journal of Clinical Immunology
10.1007/s10875-021-01145-w.
(In press).
|
|
|
Kreins, AY;
Bonfanti, P;
Davies, EG;
(2021)
Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.
Frontiers in Immunology
, 12
, Article 655354. 10.3389/fimmu.2021.655354.
|
|
|
Kreins, AY;
Junghanns, F;
Mifsud, W;
Somana, K;
Sebire, N;
Rampling, D;
Worth, A;
... Davies, EG; + view all
(2020)
Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge Syndrome.
American Journal of Transplantation
, 20
(5)
pp. 1447-1450.
10.1111/ajt.15668.
|
|
Krieger, TG;
Moran, CM;
Frangini, A;
Visser, WE;
Schoenmakers, E;
Muntoni, F;
Clark, CA;
... Livesey, FJ; + view all
(2019)
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
Proceedings of the National Academy of Sciences of the United States of America
, 116
(45)
pp. 22754-22763.
10.1073/pnas.1908762116.
|
|
|
Kuan, V;
Warwick, A;
Hingorani, A;
Tufail, A;
Cipriani, V;
Burgess, S;
Sofat, R;
(2021)
Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration A Mendelian Randomization Study.
JAMA Ophthalmology
10.1001/jamaophthalmol.2021.4601.
(In press).
|
|
|
Kucera, Filip;
Laurence, Craig;
Simmonds, Jacob;
Gavela, Javier;
Bodnar, Tetyana;
Brogan, Paul;
Hoskote, Aparna;
... Khambadkone, Sachin; + view all
(2022)
Cardiac outcomes in severe acute respiratory syndrome coronavirus-2-associated multisystem inflammatory syndrome at a tertiary paediatric hospital.
Cardiology in the Young
, Article PII S104795112100456X. 10.1017/S104795112100456X.
(In press).
|
|
Kul Cinar, Ovgu;
Putland, Amber;
Wynne, Karen;
Eleftheriou, Despina;
Brogan, Paul A;
(2022)
Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.
Frontiers in Pediatrics
, 10
, Article 867679. 10.3389/fped.2022.867679.
|
|
Kulkarni, N;
Kantar, A;
Costella, S;
Ragazzo, V;
Piacentini, G;
Boner, A;
O'Callaghan, C;
(2018)
Macrophage Phagocytosis and Allergen Avoidance in Children With Asthma.
Frontiers in Pediatrics
, 6
, Article 206. 10.3389/fped.2018.00206.
|
|
|
Kung, C-P;
Sil, BC;
Hadgraft, J;
Lane, ME;
Patel, B;
McCulloch, R;
(2019)
Preparation, Characterization and Dermal Delivery of Methadone.
Pharmaceutics
, 11
(10)
, Article 509. 10.3390/pharmaceutics11100509.
|
|
|
Kurian, M;
(2020)
Great expectations: Virus mediated gene therapy in neurological disorders.
Journal of Neurology, Neurosurgery and Psychiatry
, 91
(8)
pp. 849-860.
10.1136/jnnp-2019-322327.
|
|
Kursumovic, E;
Cook, TM;
Lucas, DN;
Davies, MT;
Martin, S;
Kane, AD;
Armstrong, RA;
... Collaborators; + view all
(2023)
The 7th National Audit Project (NAP7) baseline survey of individual anaesthetists: preparedness for and experiences of peri-operative cardiac arrest.
Anaesthesia
, 78
(12)
pp. 1453-1464.
10.1111/anae.16154.
|
|
|
Kyba, M;
Bloch, RJ;
Dumonceaux, J;
Harper, SQ;
van der Maarel, SM;
Sverdrup, FM;
Wagner, KR;
... Chen, Y-W; + view all
(2020)
Meeting report: the 2020 FSHD International Research Congress.
Skeletal Muscle
, 10
, Article 36. 10.1186/s13395-020-00253-2.
|
|
L
|
Lacerda, LM;
Liasis, A;
Handley, SE;
Tisdall, M;
Cross, JH;
Vargha-Khadem, F;
Clark, CA;
(2021)
Mapping degeneration of the visual system in long-term follow-up after childhood hemispherectomy - A series of four cases.
Epilepsy Research
, 178
, Article 106808. 10.1016/j.eplepsyres.2021.106808.
|
|
|
Lacerda, LM;
Clayden, JD;
Handley, SE;
Winston, GP;
Kaden, E;
Tisdall, M;
Cross, JH;
... Clark, CA; + view all
(2020)
Microstructural Investigations of the Visual Pathways in Pediatric Epilepsy Neurosurgery: Insights From Multi-Shell Diffusion Magnetic Resonance Imaging.
Frontiers in Neuroscience
, 14
, Article 269. 10.3389/fnins.2020.00269.
|
|
|
Lachman, Peter;
Linkson, Lynette;
Evans, Trish;
Clausen, Henning;
Hothi, Daljit;
(2015)
Developing person-centred analysis of harm in a paediatric hospital: a quality improvement report.
BMJ Quality & Safety
, 24
(5)
pp. 337-344.
10.1136/bmjqs-2014-003795.
|
|
Lager, S;
Sovio, U;
Eddershaw, E;
van der Linden, MW;
Yazar, C;
Cook, E;
Happerfield, L;
... Smith, GCS; + view all
(2020)
Abnormal placental CD8+ T cell infiltration is a feature of fetal growth restriction and pre-eclampsia.
Journal of Physiology
, 598
(23)
pp. 5555-5571.
10.1113/JP279532.
|
|
|
Lahiri, S;
Sumodhee, D;
Alkarmi, K;
Pontikos, N;
Petrushkin, H;
Gilbert, R;
(2021)
Exploring the potential for acute anterior uveitis (AAU) patients to self-manage recurrences via a mobile application: qualitative analysis of a Moorfields Patient Experience focus group.
Eye
, 35
pp. 2895-2896.
10.1038/s41433-020-01190-6.
|
|
Lakowski, J;
Welby, E;
Budinger, D;
Di Marco, F;
Di Foggia, V;
Bainbridge, JWB;
Wallace, K;
... Sowden, JC; + view all
(2018)
Isolation of Human Photoreceptor Precursors via a Cell Surface Marker Panel from Stem Cell-derived Retinal Organoids and Fetal Retinae.
Stem Cells
10.1002/stem.2775.
(In press).
|
|
|
Lalayiannis, AD;
Crabtree, NJ;
Ferro, CJ;
Wheeler, DC;
Duncan, ND;
Smith, C;
Popoola, J;
... Shroff, R; + view all
(2022)
Bone Mineral Density and Vascular Calcification in Children and Young Adults With CKD 4 to 5 or on Dialysis.
Kidney International Reports
10.1016/j.ekir.2022.10.023.
(In press).
|
|
Lam, T;
Ranjan, R;
Newark, K;
Surana, S;
Bhangu, N;
Lazenbury, A;
Childs, AM;
... Lim, M; + view all
(2021)
A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles.
European Journal of Paediatric Neurology
, 34
pp. 43-49.
10.1016/j.ejpn.2021.07.006.
|
|
Lam, Tanya;
Rocca, Clarissa;
Ibanez, Kristina;
Dalmia, Anupriya;
Tallman, Samuel;
Hadjivassiliou, Marios;
Hensiek, Anke;
... Tucci, Arianna; + view all
(2023)
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Brain Communications
, 5
(5)
, Article fcad244. 10.1093/braincomms/fcad244.
|
|
|
Lamback, EB;
Chiarini, S;
Roposch, A;
Dattani, MT;
(2021)
Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease.
Clinical Endocrinology
, 94
(4)
pp. 590-597.
10.1111/cen.14365.
|
|
Lamberink, HJ;
Geleijns, K;
Otte, WM;
Arzimanoglou, A;
Cross, JH;
Korff, CM;
Ramantani, G;
(2018)
Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery.
Epileptic Disorders
, 20
(5)
pp. 374-385.
10.1684/epd.2018.1003.
|
|
Lambert, JRA;
Howe, SJ;
Rahim, AA;
Burke, DG;
Heales, SJR;
(2019)
Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.
International Journal of Molecular Sciences
, 20
(18)
, Article 4349. 10.3390/ijms20184349.
|
|
|
Lamble, Adam J;
Moskop, Amy;
Pulsipher, Michael A;
Maude, Shannon L;
Summers, Corinne;
Annesley, Colleen;
Baruchel, André;
... Shah, Nirali; + view all
(2023)
INSPIRED Symposium Part 2: Prevention and Management of Relapse Following Chimeric Antigen Receptor T Cell Therapy for B Cell Acute Lymphoblastic Leukemia.
Transplantation and Cellular Therapy
, 29
(11)
pp. 674-684.
10.1016/j.jtct.2023.08.030.
|
|
Lane, M;
Kung, C-P;
Sil, B;
Zhang, Y;
Hadgraft, J;
Patel, B;
McCulloch, R;
(2022)
Dermal delivery of amitriptyline for topical analgesia.
Drug Delivery and Translational Research
, 12
pp. 805-815.
10.1007/s13346-021-00982-x.
|
|
Lane, M;
Kung, C-P;
Hadgraft, J;
Zhang, Y;
Sil, B;
Patel, B;
McCulloch, R;
(2020)
Investigation of binary and ternary solvent systems for dermal delivery of methadone.
International Journal of Pharmaceutics
, 586
, Article 119538. 10.1016/j.ijpharm.2020.119538.
|
|
Langan, D;
Shelmerdine, S;
Taylor, A;
Bryant, WA;
Booth, J;
Sebire, NJ;
Arthurs, O;
(2021)
Impact of the COVID-19 pandemic on radiology appointments in a tertiary children's hospital: a retrospective study.
BMJ Paediatrics Open
, 5
(1)
, Article e001210. 10.1136/bmjpo-2021-001210.
|
|
|
Lange, J;
Gillham, O;
Alkharji, R;
Eaton, S;
Ferrari, G;
Madej, M;
Flower, M;
... Ferretti, P; + view all
(2021)
Dystrophin deficiency affects human astrocyte properties andresponse to damage.
Glia
10.1002/glia.24116.
(In press).
|
|
|
Langshaw, AH;
Rosen, JM;
Pensabene, L;
Borrelli, O;
Salvatore, S;
Thapar, N;
Concolino, D;
(2018)
Overlap between functional abdominal pain disorders and organic diseases in children.
Revista de Gastroenterología de México
, 83
(3)
pp. 268-274.
10.1016/j.rgmx.2018.02.002.
|
|
Lara-Pompa, Nara E;
Macdonald, Sarah;
Fawbert, Katherine;
Shaw, Vanessa;
Wells, Jonathan C;
Fewtrell, Mary;
Hill, Susan;
(2024)
Measuring body composition in pediatric patients with complex diagnoses: Acceptability, practicality, and validation of different techniques.
Nutrition in Clinical Practice (NCP)
, 39
(3)
pp. 673-684.
10.1002/ncp.11098.
|
|
Lara-Pompa, NE;
Hill, S;
Williams, J;
Macdonald, S;
Fawbert, K;
Valente, J;
Kennedy, K;
... Fewtrell, M; + view all
(2020)
Use of standardized body composition measurements and malnutrition screening tools to detect malnutrition risk and predict clinical outcomes in children with chronic conditions.
The American Journal of Clinical Nutrition
, 112
(6)
pp. 1456-1467.
10.1093/ajcn/nqaa142.
|
|
Lascelles, K;
Afridi, S;
Siddiqui, A;
Hemingway, C;
Ferner, R;
Ganesan, V;
(2018)
Cerebral vasculopathy in childhood neurofibromatosis type 2: cause for concern?
Developmental Medicine and Child Neurology
, 60
(12)
pp. 1285-1288.
10.1111/dmcn.13920.
|
|
Lassalle, F;
Beale, MA;
Bharucha, T;
Williams, CA;
Williams, RJ;
Cudini, J;
Goldstein, R;
... Breuer, J; + view all
(2020)
Whole genome sequencing of Herpes Simplex Virus 1 directly from human cerebrospinal fluid reveals selective constraints in neurotropic viruses.
Virus Evolution
, 6
(1)
, Article veaa012. 10.1093/ve/veaa012.
|
|
|
Lau, Chun Hang;
Rouhani, Maral J;
Maughan, Elizabeth F;
Orr, Jessica C;
Kolluri, Krishna K;
Pearce, David R;
Haughey, Elizabeth K;
... Hynds, Robert E; + view all
(2024)
Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa.
Molecular Therapy
10.1016/j.ymthe.2024.02.032.
(In press).
|
|
Lautz, TB;
Eaton, SJ;
Keys, L;
Ito, J;
Polo, M;
Wells, JCK;
Pierro, A;
(2018)
Metabolic profile of children with extrahepatic portal vein obstruction undergoing meso-Rex bypass.
Journal of Surgical Research
, 223
pp. 109-114.
10.1016/j.jss.2017.10.010.
|
|
Lawless, D;
Geier, CB;
Farmer, JR;
Lango, HA;
Thwaites, D;
Atschekzei, F;
Brown, M;
... Savic, S; + view all
(2018)
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
Journal of Allergy and Clinical Immunology
, 141
(6)
pp. 2303-2306.
10.1016/j.jaci.2018.02.007.
|
|
Lawson-Tovey, Saskia;
Smith, Samantha Louise;
Geifman, Nophar;
Shoop-Worrall, Stephanie;
Ng, Sandra;
Barnes, Michael R;
Wedderburn, Lucy R;
... Al-Mossawi, Hussein; + view all
(2023)
The successes and challenges of harmonising juvenile idiopathic arthritis (JIA) datasets to create a large-scale JIA data resource.
Pediatric Rheumatology
, 21
(1)
, Article 70. 10.1186/s12969-023-00839-2.
|
|
Layard Horsfall, H;
Chari, A;
Huttunen, T;
Simcock, C;
D'Arco, F;
Thompson, D;
(2019)
Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review.
Child's Nervous System
, 35
(11)
pp. 2163-2169.
10.1007/s00381-019-04373-z.
|
|
Layard Horsfall, H;
Toescu, SM;
Grover, PJ;
Hassell, J;
Sayer, C;
Hemingway, C;
Harding, B;
... Aquilina, K; + view all
(2020)
The utility of brain biopsy in pediatric cryptogenic neurological disease.
Journal of Neurosurgery: Pediatrics
, 26
(4)
pp. 431-438.
10.3171/2020.4.PEDS19783.
|
|
Lazaridis, G;
Lorenzi, M;
Mohamed-Noriega, J;
Aguilar-Munoa, S;
Suzuki, K;
Nomoto, H;
Ourselin, S;
... United Kingdom Glaucoma Treatment Study Investigators; + view all
(2021)
OCT Signal Enhancement with Deep Learning.
Ophthalmology Glaucoma
, 4
(3)
pp. 295-304.
10.1016/j.ogla.2020.10.008.
|
|
Lazaridis, G;
Lorenzi, M;
Ourselin, S;
Garway-Heath, D;
(2021)
Improving statistical power of glaucoma clinical trials using an ensemble of cyclical generative adversarial networks.
Medical Image Analysis
, 68
, Article 101906. 10.1016/j.media.2020.101906.
|
|
Le Gall, Laura;
Anakor, Ekene;
Connolly, Owen;
Vijayakumar, Udaya Geetha;
Duddy, William J;
Duguez, Stephanie;
(2020)
Molecular and Cellular Mechanisms Affected in ALS.
Journal of Personalized Medicine
, 10
(3)
, Article 101. 10.3390/jpm10030101.
|
|
|
Le Gall, Laura;
Duddy, William J;
Martinat, Cecile;
Mariot, Virginie;
Connolly, Owen;
Milla, Vanessa;
Anakor, Ekene;
... Pradat, Pierre Francois; + view all
(2022)
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12945.
(In press).
|
|
|
Le Gall, L;
Sidlauskaite, E;
Mariot, V;
Dumonceaux, J;
(2020)
Therapeutic Strategies Targeting DUX4 in FSHD.
Journal of Clinical Medicine
, 9
(9)
, Article 2886. 10.3390/jcm9092886.
|
|
|
Le Prevost, Marthe;
Ford, Deborah;
Crichton, Siobhan;
Bamford, Alasdair;
Judd, Ali;
(2023)
An adapted algorithm for patient engagement in care for young people living with perinatal HIV in England.
BMC Health Services Research
, 23
, Article 1114. 10.1186/s12913-023-10122-5.
|
|
|
Lebrón Gutiérrez, K;
Balendra, S;
Duncan, C;
Negretti, GS;
de Graaf, P;
Reddy, MA;
Sagoo, MS;
... Bell, M; + view all
(2023)
A diagnostic dilemma: suspected retinoblastoma in a child from Sierra Leone.
Eye
10.1038/s41433-023-02729-z.
(In press).
|
|
|
Lecce, F;
Robertson, F;
Rennie, A;
Heuchan, A-M;
Lister, P;
Bhate, S;
Bhattacharya, J;
... Ganesan, V; + view all
(2018)
Cross-sectional study of a UK cohort of neonatal vein of Galen malformation.
Annals of Neurology
, 84
(4)
pp. 547-555.
10.1002/ana.25316.
|
|
Lechner, M;
Takahashi, Y;
Turri-Zanoni, M;
Liu, J;
Counsell, N;
Hermsen, M;
Kaur, RP;
... Hanna, EY; + view all
(2022)
Clinical outcomes, Kadish-INSICA staging and therapeutic targeting of somatostatin receptor 2 in olfactory neuroblastoma.
European Journal of Cancer
, 162
pp. 221-236.
10.1016/j.ejca.2021.09.046.
|
|
Lee, Irene O;
Skuse, David H;
Constable, Paul A;
Marmolejo-Ramos, Fernando;
Olsen, Ludvig R;
Thompson, Dorothy A;
(2022)
The electroretinogram b-wave amplitude: a differential physiological measure for Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder.
Journal of Neurodevelopmental Disorders
, 14
, Article 30. 10.1186/s11689-022-09440-2.
|
|
Lee, Keng Siang;
Chari, Aswin;
Motiwala, Mustafa;
Khan, Nickalus R;
Arthur, Adam S;
Lawton, Michael T;
(2024)
Effectiveness of Cerebrospinal Fluid Lumbar Drainage Among Patients with Aneurysmal Subarachnoid Hemorrhage: An Updated Systematic Review and Meta-Analysis.
World Neurosurgery
, 183
246-253.e12.
10.1016/j.wneu.2024.01.062.
|
|
Lee, Keng Siang S;
Gillespie, Conor;
Chari, Aswin;
Momin, Sheikh;
Turner, Carole D;
Jenkinson, Michael;
Brownstone, Robert;
(2023)
Current landscape of academic neurosurgical training in the United Kingdom: analysis by the Society of British Neurological Surgeons.
British Journal of Neurosurgery
10.1080/02688697.2023.2213329.
(In press).
|
|
Lee, KS;
Zhang, JJY;
Alamri, A;
Chari, A;
(2020)
Neurosurgery Education in the Medical School Curriculum: A Scoping Review.
World Neurosurgery
, 144
e631-e642.
10.1016/j.wneu.2020.09.015.
|
|
Lee, Seung Heon;
Ferran, Elena;
Witney, Adam A;
Ryu, Sungweon;
Kang, Hyungseok;
Storey, Nathaniel;
McHugh, Timothy D;
(2023)
A comparison of phenotypic and WGS drug susceptibility testing in Mycobacterium tuberculosis isolates from the Republic of Korea.
JAC-Antimicrobial Resistance
, 5
(3)
, Article dlad056. 10.1093/jacamr/dlad056.
|
|
|
Legendre, M;
Zaragosi, L-E;
Mitchison, HM;
(2021)
Motile cilia and airway disease.
Seminars in Cell & Developmental Biology
, 110
pp. 19-33.
10.1016/j.semcdb.2020.11.007.
|
|
Lehmberg, K;
Moshous, D;
Booth, C;
(2019)
Haematopoietic Stem Cell Transplantation for Primary Haemophagocytic Lymphohistiocytosis.
Frontiers in Pediatrics
, 7
, Article 435. 10.3389/fped.2019.00435.
|
|
|
Lei, L;
Muhammad, S;
Al-Obaidi, M;
Sebire, N;
Cheng, IL;
Eleftheriou, D;
Brogan, P;
(2018)
Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ.
Pediatric Rheumatology
, 16
(1)
, Article 61. 10.1186/s12969-018-0278-1.
|
|
|
Leiner, T;
Bogaert, J;
Friedrich, MG;
Mohiaddin, R;
Muthurangu, V;
Myerson, S;
Powell, AJ;
... Pennell, DJ; + view all
(2020)
SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance.
Journal of Cardiovascular Magnetic Resonance
, 22
(1)
, Article 76. 10.1186/s12968-020-00682-4.
|
|
|
Leiper, A;
Houwing, M;
Davies, EG;
Rao, K;
Burns, S;
Morris, E;
Laven, J;
... Nussey, S; + view all
(2020)
Anti-Mullerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens.
Bone Marrow Transplantation
10.1038/s41409-020-0866-9.
|
|
Lenaerts, L;
Reynhout, S;
Verbinnen, I;
Laumonnier, F;
Toutain, A;
Bonnet-Brilhault, F;
Hoorne, Y;
... Janssens, V; + view all
(2020)
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genetics in Medicine
10.1038/s41436-020-00981-2.
(In press).
|
|
|
Leo, Isabella;
Sabatino, Jolanda;
Avesani, Martina;
Moscatelli, Sara;
Bianco, Francesco;
Borrelli, Nunzia;
De Sarro, Rosalba;
... Working Group on Congenital Heart Disease, Cardiovascular Preve; + view all
(2024)
Non-Invasive Imaging Assessment in Patients with Aortic Coarctation: A Contemporary Review.
Journal of Clinical Medicine
, 13
(1)
, Article 28. 10.3390/jcm13010028.
|
|
Leon, LJ;
Doyle, R;
Diez-Benavente, E;
Clark, TG;
Klein, N;
Stanier, P;
Moore, GE;
(2018)
Enrichment of clinically relevant organisms in spontaneous preterm delivered placenta and reagent contamination across all clinical groups in a large UK pregnancy cohort.
Applied and Environmental Microbiology
, 84
(14)
10.1128/AEM.00483-18.
|
|
Leonardi, Benedetta;
Perrone, Marco;
Calcaterra, Giuseppe;
Sabatino, Jolanda;
Leo, Isabella;
Aversani, Martina;
Bassareo, Pier Paolo;
... Di Salvo, Giovanni; + view all
(2024)
Repaired Tetralogy of Fallot: Have We Understood the Right Timing of PVR?
Journal of Clinical Medicine
, 13
(9)
, Article 2682. 10.3390/jcm13092682.
|
|
|
Leong, S;
Inglott, S;
Papaleonidopoulou, F;
Orfinada, K;
Ancliff, P;
Bartram, J;
Carpenter, B;
... O'Connor, D; + view all
(2020)
CD1a is rarely expressed in pediatric or adult relapsed/refractory T-ALL: implications for immunotherapy.
Blood Advances
, 4
(19)
pp. 4665-4668.
10.1182/bloodadvances.2020002502.
|
|
Lerner, S;
Eilam, R;
Adler, L;
Baruteau, J;
Kreiser, T;
Tsoory, M;
Brandis, A;
... Erez, A; + view all
(2021)
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Human Genetics
10.1007/s00439-021-02345-5.
(In press).
|
|
|
Lesage, R;
Van Oudheusden, M;
Schievano, S;
Van Hoyweghen, I;
Geris, L;
Capelli, C;
(2023)
Mapping the use of computational modelling and simulation in clinics: A survey.
Frontiers in Medical Technology
, 5
, Article 1125524. 10.3389/fmedt.2023.1125524.
|
|
Leung, K-Y;
De Castro, SCP;
Santos, C;
Savery, D;
Prunty, H;
Gold-Diaz, D;
Bennett, S;
... Greene, NDE; + view all
(2020)
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of Non-Ketotic Hyperglycinemia.
Journal of Inherited Metabolic Disease
, 43
(6)
pp. 1186-1198.
10.1002/jimd.12295.
|
|
|
Levey, AS;
Eckardt, K-U;
Dorman, NM;
Christiansen, SL;
Hoorn, EJ;
Ingelfinger, JR;
Inker, LA;
... Winkelmayer, WC; + view all
(2020)
Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference.
Kidney International
, 97
(6)
pp. 1117-1129.
10.1016/j.kint.2020.02.010.
(In press).
|
|
Levine, AP;
Chan, MMY;
Sadeghi-Alavijeh, O;
Wong, EKS;
Cook, HT;
Ashford, S;
Carss, K;
... Gale, DP; + view all
(2020)
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Journal of the American Society of Nephrology
, 31
(1)
10.1681/ASN.2019040433.
|
|
|
Lewis, C;
Simcock, IC;
Arthurs, OJ;
(2021)
Improving uptake of perinatal autopsy.
Current Opinion in Obstetrics and Gynecology
, 33
(2)
pp. 129-134.
10.1097/GCO.0000000000000691.
|
|
Lewis, C;
Hammond, J;
Hill, M;
Searle, B;
Hunter, A;
Patch, C;
Chitty, LS;
(2020)
Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100,000 genomes project.
European Journal of Medical Genetics
, 63
(11)
, Article 104043. 10.1016/j.ejmg.2020.104043.
|
|
Lewis, C;
Hammond, J;
Klapwijk, JE;
Harding, E;
Lou, S;
Vogel, I;
Szepe, EJ;
... Riedijk, S; + view all
(2021)
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: an international cross-sectional study with healthcare professionals.
Prenatal Diagnosis
10.1002/pd.5932.
(In press).
|
|
|
Lewis, C;
Hill, M;
Arthurs, OJ;
Hutchinson, JC;
Chitty, LS;
Sebire, N;
(2018)
Health professionals’ and coroners’ views on less invasive perinatal and paediatric autopsy: a qualitative study.
Archives of Disease in Childhood
, 103
(6)
pp. 572-578.
10.1136/archdischild-2017-314424.
|
|
|
Lewis, C;
Hutchinson, JC;
Riddington, M;
Hill, M;
Arthurs, OJ;
Fisher, J;
Wade, A;
... Sebire, NJ; + view all
(2019)
Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study.
Health Technology Assessment
, 23
(46)
10.3310/hta23460.
|
|
|
Lewis, C;
Latif, Z;
Hill, M;
Riddington, M;
Lakhanpaul, M;
Arthurs, OJ;
Hutchinson, JC;
... Sebire, NJ; + view all
(2018)
"We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy.
PLoS One
, 13
(8)
, Article e0202023. 10.1371/journal.pone.0202023.
|
|
|
Lewis, C;
Riddington, M;
Hill, M;
Arthurs, OJ;
Hutchinson, JC;
Chitty, LS;
Bevan, C;
... Sebire, NJ; + view all
(2019)
Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents.
BJOG: An International Journal of Obstetrics & Gynaecology
, 126
(6)
pp. 745-753.
10.1111/1471-0528.15591.
|
|
Lewis, C;
Riddington, M;
Hill, M;
Bevan, C;
Fisher, J;
Lyas, L;
Chalmers, A;
... Sebire, N; + view all
(2019)
"The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination.
Prenatal Diagnosis
, 39
(13)
pp. 1242-1253.
10.1002/pd.5575.
|
|
|
Lewis, C;
Sanderson, SC;
Hammond, J;
Hill, M;
Searle, B;
Hunter, A;
Patch, C;
(2020)
Development and mixed-methods evaluation of an online animation for young people about genome sequencing.
European Journal of Human Genetics
, 28
pp. 896-906.
10.1038/s41431-019-0564-5.
|
|
|
Lewis, KM;
Parekh, SM;
Ramnarayan, P;
Gilbert, R;
Hardelid, P;
Wijlaars, L;
(2020)
Emergency paediatric critical care in England: describing trends using routine hospital data.
Archives of Disease in Childhood
, 105
(11)
pp. 1061-1067.
10.1136/archdischild-2019-317902.
|
|
|
Li, Y-F;
Thom, M;
Jacques, TS;
(2020)
Novel therapeutic targets in epilepsy: oxidative stress and iron metabolism.
Neuropathology and Applied Neurobiology
, 46
(6)
pp. 519-521.
10.1111/nan.12615.
|
|
Li, L;
Zhu, H;
Zhang, Z;
Zhao, L;
Xu, L;
Jonas, RA;
Garway-Heath, DF;
... Wang, YX; + view all
(2021)
Neural Network-Based Retinal Nerve Fiber Layer Profile Compensation for Glaucoma Diagnosis in Myopia: Model Development and Validation.
JMIR Medical Informatics
, 9
(5)
, Article e22664. 10.2196/22664.
|
|
|
Lima Cunha, D;
Arno, G;
Corton, M;
Moosajee, M;
(2019)
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Genes
, 10
(12)
, Article 1050. 10.3390/genes10121050.
|
|
|
Lima Cunha, D;
Owen, N;
Tailor, V;
Corton, M;
Theodorou, M;
Moosajee, M;
(2020)
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
European Journal of Human Genetics
10.1038/s41431-020-00737-1.
(In press).
|
|
|
Lima Cunha, D;
Richardson, R;
Tracey-White, D;
Abbouda, A;
Mitsios, A;
Horneffer-van der Sluis, V;
Takis, P;
... Moosajee, M; + view all
(2021)
REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
JCI Insight
10.1172/jci.insight.146934.
|
|
|
Lin, H;
Figini, M;
D'Arco, F;
Ogbole, G;
Tanno, R;
Blumberg, SB;
Ronan, L;
... Alexander, DC; + view all
(2023)
Low-field magnetic resonance image enhancement via stochastic image quality transfer.
Medical Image Analysis
, 87
, Article 102807. 10.1016/j.media.2023.102807.
|
|
Lin, Siying;
Webster, Andrew;
(2024)
Unveiling hidden genetic complexity: coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy.
American Journal of Medical Genetics Part A
, 194
(11)
, Article e63805. 10.1002/ajmg.a.63805.
|
|
Linderman, MD;
Sanderson, SC;
Bashir, A;
Diaz, GA;
Kasarskis, A;
Zinberg, R;
Mahajan, M;
... Schadt, EE; + view all
(2018)
Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years.
BMC Medical Genomics
, 11
, Article 5. 10.1186/s12920-018-0319-0.
|
|
|
Lindesmith, Lisa C;
Boshier, Florencia AT;
Brewer-Jensen, Paul D;
Roy, Sunando;
Costantini, Veronica;
Mallory, Michael L;
Zweigart, Mark;
... Baric, Ralph S; + view all
(2022)
Immune Imprinting Drives Human Norovirus Potential for Global Spread.
mBio
, Article e0186122. 10.1128/mbio.01861-22.
(In press).
|
|
Lindesmith, Lisa C;
Brewer-Jensen, Paul D;
Conrad, Helen;
O'Reilly, Kathleen M;
Mallory, Michael L;
Kelly, Daniel;
Williams, Rachel;
... Baric, Ralph S; + view all
(2023)
Emergent variant modeling of the serological repertoire to norovirus in young children.
Cell Reports Medicine
, 4
(3)
, Article 100954. 10.1016/j.xcrm.2023.100954.
|
|
Lindesmith, Lisa C;
Brewer-Jensen, Paul D;
Mallory, Michael L;
Zweigart, Mark R;
May, Samantha R;
Kelly, Daniel;
Williams, Rachel;
... Baric, Ralph S; + view all
(2022)
Antigenic Site Immunodominance Redirection Following Repeat Variant Exposure.
Viruses
, 14
(6)
, Article 1293. 10.3390/v14061293.
|
|
Lipman, M;
McQuaid, CF;
Abubakar, I;
Khan, M;
Kranzer, K;
McHugh, TD;
Padmapriyadarsini, C;
... Stoker, N; + view all
(2021)
The impact of COVID-19 on global tuberculosis control.
Indian Journal of Medical Research
, 153
(4)
pp. 404-408.
10.4103/ijmr.IJMR_326_21.
|
|
|
Lipska-Ziętkiewicz, BS;
Ozaltin, F;
Hölttä, T;
Bockenhauer, D;
Bérody, S;
Levtchenko, E;
Vivarelli, M;
... Boyer, O; + view all
(2020)
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
European Journal of Human Genetics
10.1038/s41431-020-0642-8.
|
|
|
Litts, KM;
Woertz, EN;
Georgiou, M;
Patterson, EJ;
Lam, BL;
Fishman, GA;
Pennesi, ME;
... Carroll, J; + view all
(2021)
Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.
Translational Vision Science & Technology
, 10
(1)
, Article 11. 10.1167/tvst.10.1.11.
|
|
|
Liu, E;
Smyth, RL;
Luo, Z;
Qaseem, A;
Mathew, JL;
Lu, Q;
Fu, Z;
... Li, Q; + view all
(2020)
Rapid advice guidelines for management of children with COVID-19.
Annals of translational medicine
, 8
(10)
, Article 617. 10.21037/atm-20-3754.
|
|
|
Liu, J;
Reeves, C;
Jacques, TS;
McEvoy, A;
Miserocchi, A;
Thompson, P;
Sisodiya, S;
(2017)
Nestin-expressing cell types in the temporal lobe and hippocampus: morphology, differentiation and proliferative capacity.
Glia
10.1002/glia.23211.
(In press).
|
|
|
Liu, X;
Fujinami, K;
Kuniyoshi, K;
Kondo, M;
Ueno, S;
Hayashi, T;
Mochizuki, K;
... Consortium, JEG; + view all
(2020)
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.
Translational Vision Science and Technology
, 9
(6)
, Article 2. 10.1167/tvst.9.6.2.
|
|
|
Livermore, P;
Gibson, F;
Mulligan, K;
Wedderburn, LR;
McCann, LJ;
Gray, S;
(2021)
Mapping the current psychology provision for children and young people with juvenile dermatomyositis.
Rheumatology Advances in Practice
, 5
(3)
, Article rkab062. 10.1093/rap/rkab062.
|
|
|
Livermore, Polly;
Kupiec, Klaudia;
Wedderburn, Lucy R;
Knight, Andrea;
Solebo, Ameenat L;
Shafran, Roz;
Robert, Glenn;
... Gibson, Faith; + view all
(2024)
Designing, developing and testing a chatbot for parents and carers of children and young people with rheumatological conditions (the IMPACT study): Protocol for a co-designed proof of concept study.
JMIR Research Protocols
, 13
, Article e57238. 10.2196/57238.
|
|
Livermore, P;
Gray, S;
Mulligan, K;
Stinson, JN;
Wedderburn, LR;
Gibson, F;
(2019)
Being on the juvenile dermatomyositis rollercoaster: a qualitative study.
Pediatric Rheumatology
, 17
, Article 30. 10.1186/s12969-019-0332-7.
|
|
|
Livingstone, S;
Pagel, C;
Shao, Z;
Randle, E;
Ramnarayan, P;
(2021)
Modelling the association between weather and short-term demand for children’s intensive care transport services during winter in the South East of England.
Operations Research for Health Care
, 31
, Article 100327. 10.1016/j.orhc.2021.100327.
|
|
Ll Wilkinson, MG;
Deakin, CT;
Papadopoulou, C;
Eleftheriou, D;
Wedderburn, LR;
(2021)
JAK inhibitors: a potential treatment for JDM in the context of the role of interferon-driven pathology.
Pediatric Rheumatology
, 19
(1)
, Article 146. 10.1186/s12969-021-00637-8.
|
|
|
Lloyd, Philippa;
Westcott, Mark;
Kaliki, Swathi;
Ji, Xunda;
Zou, Yihua;
Rashid, Riffat;
Sultana, Sadia;
... Reddy, M Ashwin; + view all
(2022)
The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study.
Eye
10.1038/s41433-022-01992-w.
|
|
|
Locatelli, F;
Thompson, AA;
Kwiatkowski, JL;
Porter, JB;
Thrasher, AJ;
Hongeng, S;
Sauer, MG;
... Walters, MC; + view all
(2022)
Betibeglogene Autotemcel Gene Therapy for Non-β⁰/β⁰ Genotype β-Thalassemia.
New England Journal of Medicine
, 386
pp. 415-427.
10.1056/NEJMoa2113206.
|
|
Lodge, EJ;
Santambrogio, A;
Russell, JP;
Xekouki, P;
Jacques, TS;
Johnson, RL;
Thavaraj, S;
... Andoniadou, CL; + view all
(2019)
Homeostatic and tumourigenic activity of SOX2+ pituitary stem cells is controlled by the LATS/YAP/TAZ cascade.
Elife
, 8
, Article e43996. 10.7554/eLife.43996.
|
|
|
Logeman, C;
Guha, C;
Howell, M;
Hanson, CS;
Craig, JC;
Samuel, S;
Zappitelli, M;
... Gutman, T; + view all
(2020)
Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi Survey.
American Journal of Kidney Diseases
, 76
(4)
pp. 533-545.
10.1053/j.ajkd.2020.03.014.
|
|
Lokulo-Sodipe, O;
Ballard, L;
Child, J;
Inskip, HM;
Byrne, CD;
Ishida, M;
Moore, GE;
... Temple, IK; + view all
(2020)
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Journal of Medical Genetics
10.1136/jmedgenet-2019-106561.
(In press).
|
|
|
Long-Boyle, Janel R;
Kohn, Donald B;
Shah, Ami J;
Spencer, Sueli Marques;
Sevilla, Julian;
Booth, Claire;
Lorenzo, Jose Luis Lopez;
... Schwartz, Jonathan D; + view all
(2024)
Busulfan and subsequent malignancy: An evidence-based risk assessment.
Pediatric Blood & Cancer
, 71
(1)
, Article e30738. 10.1002/pbc.30738.
|
|
Lonsdale, DO;
Kipper, K;
Baker, EH;
Barker, CIS;
Oldfield, I;
Philips, BJ;
Johnston, A;
... Standing, JF; + view all
(2020)
β-Lactam antimicrobial pharmacokinetics and target attainment in critically ill patients aged 1 day to 90 years: the ABDose study.
Journal of Antimicrobial Chemotherapy
, 75
(12)
pp. 3625-3634.
10.1093/jac/dkaa363.
|
|
Lonsdale, DO;
Baker, EH;
Kipper, K;
Barker, C;
Philips, B;
Rhodes, A;
Sharland, M;
(2019)
Scaling beta-lactam antimicrobial pharmacokinetics from early life to old age.
British Journal of Clinical Pharmacology
, 85
(2)
pp. 316-346.
10.1111/bcp.13756.
|
|
Lopes, Luis R;
Losi, Maria-Angela;
Sheikh, Nabeel;
Laroche, Cécile;
Charron, Philippe;
Gimeno, Juan;
Kaski, Juan P;
... Cardiomyopathy Registry Investigators Group, .; + view all
(2022)
Association Between Common Cardiovascular Risk Factors and Clinical Phenotype in Patients with Hypertrophic Cardiomyopathy From the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis Registry.
European Heart Journal - Quality of Care and Clinical Outcomes
10.1093/ehjqcco/qcac006.
(In press).
|
|
|
Lopes, LR;
Garcia-Hernández, S;
Lorenzini, M;
Futema, M;
Chumakova, O;
Zateyshchikov, D;
Isidoro-Garcia, M;
... Elliott, PM; + view all
(2021)
Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
European Heart Journal
10.1093/eurheartj/ehab424.
(In press).
|
|
|
Lopez, L;
Houyel, L;
Colan, SD;
Anderson, RH;
Béland, MJ;
Aiello, VD;
Bailliard, F;
... Franklin, RCG; + view all
(2018)
Classification of Ventricular Septal Defects for the Eleventh Iteration of the International Classification of Diseases—Striving for Consensus: A Report From the International Society for Nomenclature of Paediatric and Congenital Heart Disease.
The Annals of Thoracic Surgery
, 106
(5)
pp. 1578-1589.
10.1016/j.athoracsur.2018.06.020.
|
|
Lopez-Garcia, SC;
Downie, ML;
Kim, JS;
Boyer, O;
Walsh, SB;
Nijenhuis, T;
Papizh, S;
... Bockenhauer, D; + view all
(2020)
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Nephrology Dialysis Transplantation
, Article gfaa243. 10.1093/ndt/gfaa243.
(In press).
|
|
Lopez-Garcia, SC;
Emma, F;
Walsh, SB;
Fila, M;
Hooman, N;
Zaniew, M;
Bertholet-Thomas, A;
... Bockenhauer, D; + view all
(2019)
Treatment and long-term outcome in primary distal renal tubular acidosis.
Nephrology Dialysis Transplantation
, 34
(6)
pp. 981-991.
10.1093/ndt/gfy409.
|
|
Lopez-Sainz, A;
Dominguez, F;
Lopes, LR;
Ochoa, JP;
Barriales-Villa, R;
Climent, V;
Linschoten, M;
... European Genetic Cardiomyopathies Initiative Investigators; + view all
(2020)
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Journal of the American College of Cardiology
, 76
(2)
pp. 186-197.
10.1016/j.jacc.2020.05.029.
|
|
Lord, J;
McMullan, DJ;
Eberhardt, RY;
Rinck, G;
Hamilton, SJ;
Quinlan-Jones, E;
Prigmore, E;
... Prenatal Assessment of Genomes and Exomes Consortium; + view all
(2019)
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
The Lancet
, 393
(10173)
pp. 747-757.
10.1016/S0140-6736(18)31940-8.
|
|
|
Lorenzini, M;
Guha, N;
Davison, JE;
Pitcher, A;
Pandya, B;
Kemp, H;
Lachmann, R;
... Murphy, E; + view all
(2018)
Isolated aortic root dilation in homocystinuria.
Journal of Inherited Metabolic Disease
, 41
(1)
pp. 109-115.
10.1007/s10545-017-0094-7.
|
|
Lorenzini, M;
Norrish, G;
Field, E;
Ochoa, JP;
Cicerchia, M;
Akhtar, MM;
Syrris, P;
... Elliott, PM; + view all
(2020)
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
Journal of the American College of Cardiology
, 76
(5)
pp. 550-559.
10.1016/j.jacc.2020.06.011.
|
|
|
Lorenzini, T;
Fliegauf, M;
Klammer, N;
Frede, N;
Proietti, M;
Bulashevska, A;
Camacho-Ordonez, N;
... Grimbacher, B; + view all
(2020)
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Journal of Allergy and Clinical Immunology
, 146
(4)
pp. 901-911.
10.1016/j.jaci.2019.11.051.
|
|
Lorio, S;
Adler, S;
Gunny, R;
D'Arco, F;
Kaden, E;
Wagstyl, K;
Jacques, TS;
... Carmichael, DW; + view all
(2020)
MRI profiling of focal cortical dysplasia using multi-compartment diffusion models.
Epilepsia
10.1111/epi.16451.
(In press).
|
|
|
Lorio, S;
Sedlacik, J;
So, P-W;
Parkes, HG;
Gunny, R;
Löbel, U;
Li, Y-F;
... Carmichael, DW; + view all
(2021)
Quantitative MRI susceptibility mapping reveals cortical signatures of changes in iron, calcium and zinc in malformations of cortical development in children with drug-resistant epilepsy.
Neuroimage
, 238
, Article 118102. 10.1016/j.neuroimage.2021.118102.
|
|
|
Lorio, S;
Tierney, TM;
McDowell, A;
Arthurs, OJ;
Lutti, A;
Weiskopf, N;
Carmichael, DW;
(2019)
Flexible proton density (PD) mapping using multi-contrast variable flip angle (VFA) data.
Neuroimage
, 186
pp. 464-475.
10.1016/j.neuroimage.2018.11.023.
(In press).
|
|
|
Lorvellec, M;
Pellegata, AF;
Maestri, A;
Turchetta, C;
Alvarez Mediavilla, E;
Shibuya, S;
Jones, B;
... Gissen, P; + view all
(2020)
An In Vitro Whole-Organ Liver Engineering for Testing of Genetic Therapies.
iScience
, 23
(12)
, Article 101808. 10.1016/j.isci.2020.101808.
|
|
|
Lou, S;
Lomborg, K;
Lewis, C;
Riedijk, S;
Petersen, OB;
Vogel, I;
(2020)
"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result.
Acta Obstetricia et Gynecologica Scandinavica
, 99
(6)
pp. 791-801.
10.1111/aogs.13813.
|
|
Loussouarn, A;
Devlin, A;
Bast, T;
Benoist, G;
Corrard, F;
Cross, H;
Ferretti, A;
... Auvin, S; + view all
(2021)
Consensus statements on the information to deliver after a febrile seizure.
European Journal of Pediatrics
, 180
(9)
pp. 2993-2999.
10.1007/s00431-021-04067-2.
|
|
Low, Jie Man;
Hyrich, Kimme L;
Ciurtin, Coziana;
McErlane, Flora;
Wedderburn, Lucy R;
CAPS Principal Investigators, .;
(2023)
The impact of psoriasis on wellbeing and clinical outcomes in juvenile psoriatic arthritis.
Rheumatology
, Article kead370. 10.1093/rheumatology/kead370.
(In press).
|
|
Lowe, Alexander J;
Rodrigues, Filipe B;
Arridge, Marzena;
De Vita, Enrico;
Johnson, Eileanoir B;
Scahill, Rachael I;
Byrne, Lauren M;
... Wild, Edward J; + view all
(2022)
Longitudinal evaluation of proton magnetic resonance spectroscopy metabolites as biomarkers in Huntington’s disease.
Brain Communications
, Article fcac258. 10.1093/braincomms/fcac258.
(In press).
|
|
Lowe, David M;
Brown, Li-An K;
Chowdhury, Kashfia;
Davey, Stephanie;
Yee, Philip;
Ikeji, Felicia;
Ndoutoumou, Amalia;
... FLARE Investigators; + view all
(2022)
Favipiravir, lopinavir-ritonavir, or combination therapy (FLARE): A randomised, double-blind, 2 × 2 factorial placebo-controlled trial of early antiviral therapy in COVID-19.
PLoS Medicine
, 19
(10)
, Article e1004120. 10.1371/journal.pmed.1004120.
|
|
Lowe, DM;
Smith, PJ;
Moreira, F;
Workman, S;
Braggins, H;
Koukias, N;
Buckland, MS;
... Murray, CD; + view all
(2019)
Chronic Granulomatous Disorder-Associated Colitis Can Be Accurately Evaluated with MRI Scans and Fecal Calprotectin Level.
Journal of Clinical Immunology
10.1007/s10875-019-00651-2.
(In press).
|
|
|
Lu, S;
Champion, H;
Mills, N;
Simpson, Z;
Whiteley, VJ;
Schoeler, NE;
(2023)
Impact of ketogenic diet therapy on growth in children with epilepsy.
Epilepsy Research
, 190
, Article 107076. 10.1016/j.eplepsyres.2023.107076.
|
|
Lum, SH;
James, B;
Ottaviano, G;
Ewins, AM;
Patrick, K;
Ali, S;
Carpenter, B;
... Wynn, R; + view all
(2023)
Alemtuzumab, Dual Graft-versus-Host Disease Prophylaxis, and Lower CD3+ T Cell Doses Equalize Rates of Acute and Chronic Graft-versus-Host Disease in Pediatric Patients Receiving Allogeneic Hematopoietic Stem Cell Transplantation with Matched Unrelated Donor Peripheral Blood Stem Cells or Bone Marrow Grafts.
Transplantation and Cellular Therapy
10.1016/j.jtct.2023.12.005.
(In press).
|
|
Lumby, CK;
Zhao, L;
Breuer, J;
Illingworth, CJR;
(2020)
A large effective population size for established within-host influenza virus infection.
eLife
, 9
, Article e56915. 10.7554/eLife.56915.
|
|
|
Lumby, CK;
Zhao, L;
Oporto, M;
Best, T;
Tutill, H;
Shah, D;
Veys, P;
... Breuer, J; + view all
(2020)
Favipiravir and Zanamivir Cleared Infection with Influenza B in a Severely Immunocompromised Child.
Clinical Infectious Diseases
10.1093/cid/ciaa023.
(In press).
|
|
|
Luo, J;
Hashimoto, Y;
Martens, LG;
Meulmeester, FL;
Ashrafi, N;
Mook-Kanamori, DO;
Rosendaal, FR;
... van Heemst, D; + view all
(2021)
Associations of metabolomic profiles with circulating vitamin E and urinary vitamin E metabolites in middle-aged individuals.
Nutrition
, Article 111440. 10.1016/j.nut.2021.111440.
(In press).
|
|
|
Luo, J;
Mills, K;
le Cessie, S;
Noordam, R;
van Heemst, D;
(2020)
Ageing, age-related diseases and oxidative stress: What to do next?
Ageing Research Reviews
, 57
, Article 100982. 10.1016/j.arr.2019.100982.
|
|
Lyons, Alex;
Thompson, Lindsay;
Chappell, Elizabeth;
Ene, Luminita;
Galli, Luisa;
Goetghebuer, Tessa;
Jourdain, Gonzague;
... Collins, Intira J; + view all
(2022)
Outcomes of etravirine-based antiretroviral treatment in treatment-experienced children and adolescents living with HIV in Europe and Thailand.
Antiviral Therapy
, 27
(3)
10.1177/13596535221092182.
(In press).
|
|
Lyons, L;
Schoeler, NE;
Langan, D;
Cross, JH;
(2020)
Use of ketogenic diet therapy in infants with epilepsy: A systematic review and meta-analysis.
Epilepsia
10.1111/epi.16543.
(In press).
|
|
|
Lyratzopoulos, G;
Herbert, A;
Whelan, J;
Taylor, RM;
Barber, J;
Gibson, F;
Fern, L;
(2018)
Diagnostic timeliness in teenagers and young adults with cancer: Cross-sectional findings from the BRIGHTLIGHT cohort.
The Lancet Child and Adolescent Health
, 2
(3)
pp. 180-190.
10.1016/S2352-4642(18)30004-X.
|
|
Lythgoe, H;
Almeida, B;
Bennett, J;
Bhat, C;
Bilkhu, A;
Brennan, M;
Deepak, S;
... Pain, CE; + view all
(2018)
Multi-centre national audit of juvenile localised scleroderma: describing current UK practice in disease assessment and management.
Pediatric Rheumatology
, 16
, Article 80. 10.1186/s12969-018-0295-0.
|
|
M
|
M F Silva, J;
Ladomenou, F;
Carpenter, B;
Chandra, S;
Sedlacek, P;
Formankova, R;
Grandage, V;
... Veys, P; + view all
(2018)
Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis.
Blood Adv
, 2
(7)
pp. 777-786.
10.1182/bloodadvances.2017014449.
|
|
Maas, BDPJ;
Pluijmers, BI;
Knoops, PGM;
Ruff, C;
Koudstaal, MJ;
Dunaway, D;
(2018)
Using principal component analysis to describe the midfacial deformities in patients with craniofacial microsomia.
Journal of Cranio-Maxillofacial Surgery
, 46
(12)
pp. 2032-2041.
10.1016/j.jcms.2018.09.019.
|
|
MacCannell, Drew;
Berger, Zdenek;
Kirschner, Janbernd;
Mercuri, Eugenio;
Farrar, Michelle A;
Iannaccone, Susan T;
Kuntz, Nancy L;
... Muntoni, Francesco; + view all
(2022)
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model.
CNS Drugs
, 36
(2)
pp. 181-190.
10.1007/s40263-022-00899-0.
|
|
MacCannell, D;
Berger, Z;
East, L;
Mercuri, E;
Kirschner, J;
Muntoni, F;
Farrar, MA;
... Finkel, RS; + view all
(2021)
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen.
Neuromuscular Disorders
, 31
(4)
pp. 310-318.
10.1016/j.nmd.2021.02.014.
|
|
|
Maccari, Maria Elena;
Wolkewitz, Martin;
Schwab, Charlotte;
Lorenzini, Tiziana;
Leiding, Jennifer W;
Aladjdi, Nathalie;
Abolhassani, Hassan;
... European Society for Immunodeficiencies Registry Working, Party; + view all
(2023)
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Journal of Allergy and Clinical Immunology
, 152
(4)
984-996.e10.
10.1016/j.jaci.2023.06.015.
|
|
Macdougall, Amy;
Jarvis, Deborah;
Keogh, Ruth H;
Bowerman, Cole;
Bilton, Diana;
Davies, Gwyneth;
Carr, Siobhán B;
(2022)
Trajectories of early growth and subsequent lung function in cystic fibrosis: An observational study using UK and Canadian registry data.
Journal of Cystic Fibrosis
10.1016/j.jcf.2022.09.001.
(In press).
|
|
Mackay, A;
Burford, A;
Molinari, V;
Jones, DTW;
Izquierdo, E;
Brouwer-Visser, J;
Giangaspero, F;
... Jones, C; + view all
(2018)
Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial.
Cancer Cell
, 33
(5)
pp. 829-842.
10.1016/j.ccell.2018.04.004.
|
|
|
Macken, William L;
Falabella, Micol;
McKittrick, Caroline;
Pizzamiglio, Chiara;
Ellmers, Rebecca;
Eggleton, Kelly;
Woodward, Cathy E;
... Pitceathly, Robert DS; + view all
(2022)
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Nature Communications
, 13
, Article 6324. 10.1038/s41467-022-32908-7.
|
|
Maghin, Edoardo;
Carraro, Eugenia;
Boso, Daniele;
Dedja, Arben;
Giagante, Mattia;
Caccin, Paola;
Barna, Raluca Ana-Maria;
... Piccoli, Martina; + view all
(2022)
Customized bioreactor enables the production of 3D diaphragmatic constructs influencing matrix remodeling and fibroblast overgrowth.
npj Regenerative Medicine
, 7
, Article 25. 10.1038/s41536-022-00222-x.
|
|
|
Magnani, A;
Semeraro, M;
Adam, F;
Booth, C;
Dupré, L;
Morris, EC;
Gabrion, A;
... Cavazzana, M; + view all
(2022)
Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott–Aldrich syndrome.
nature medicine
, 28
pp. 71-80.
10.1038/s41591-021-01641-x.
|
|
|
Mahamdallie, S;
Yost, S;
Poyastro-Pearson, E;
Holt, E;
Zachariou, A;
Seal, S;
Elliott, A;
... Rahman, N; + view all
(2019)
Identification of new Wilms tumour predisposition genes: an exome sequencing study.
The Lancet Child & Adolescent Health
10.1016/S2352-4642(19)30018-5.
(In press).
|
|
|
Maher, Ahmed;
De Coppi, Paolo;
Blackburn, Simon;
Loukogeorgakis, Stavros;
Eaton, Simon;
Cross, Kate;
Giuliani, Stefano;
... Mullassery, Dhanya; + view all
(2024)
Short and Medium Term Outcomes of Open and Laparoscopic Assisted Oesophageal Replacement Procedures.
Journal of Pediatric Surgery
, 59
(2)
pp. 192-196.
10.1016/j.jpedsurg.2023.10.015.
|
|
Mahmood, U;
Méjécase, C;
Ali, SMA;
Moosajee, M;
Kozak, I;
(2021)
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Genes
, 12
(2)
, Article 171. 10.3390/genes12020171.
|
|
|
Mahon, C;
McHugh, K;
Alband, N;
Rampling, D;
Sebire, N;
Williamson, E;
Glover, M;
(2021)
Routine liver ultrasound screening does not alter clinical management in a cohort study of multiple cutaneous infantile haemangioma.
British Journal of Dermatology
, 184
(2)
pp. 340-341.
10.1111/bjd.19472.
|
|
Mahroo, Omar A;
Martin-Gutierrez, Maria Pilar;
Michaelides, Michel;
Webster, Andrew R;
Arno, Gavin;
(2023)
No strong evidence to date for an association between RIMS1 and retinal dystrophy.
Documenta Ophthalmologica
, 146
pp. 93-94.
10.1007/s10633-022-09905-8.
|
|
Majander, Anna;
Jurkute, Neringa;
Burté, Florence;
Brock, Kristian;
João, Catarina;
Huang, Houbin;
Neveu, Magella M;
... Yu-Wai-Man, Patrick; + view all
(2022)
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
American Journal of Ophthalmology
, 241
pp. 9-27.
10.1016/j.ajo.2022.04.003.
|
|
Majonga, E;
Chiesa, S;
McHugh, G;
Mujuru, H;
Nathoo, K;
Odland, J;
Kaski, J;
(2020)
Carotid intima media thickness in older children and adolescents with HIV taking antiretroviral therapy.
Medicine
, 99
(17)
, Article e19554. 10.1097/MD.0000000000019554.
|
|
|
Majonga, ED;
Norrish, G;
Rehman, AM;
Kranzer, K;
Mujuru, HA;
Nathoo, K;
Odland, JO;
... Ferrand, RA; + view all
(2018)
Racial Variation in Echocardiographic Reference Ranges for Left Chamber Dimensions in Children and Adolescents: A Systematic Review.
Pediatric Cardiology
, 39
(5)
pp. 859-868.
10.1007/s00246-018-1873-0.
|
|
|
Majonga, ED;
Rehman, AM;
Simms, V;
Mchugh, G;
Mujuru, HA;
Nathoo, K;
Odland, JO;
... Ferrand, RA; + view all
(2018)
High prevalence of echocardiographic abnormalities in older HIV-infected children taking antiretroviral therapy.
AIDS
, 32
(18)
pp. 2739-2748.
10.1097/QAD.0000000000002031.
|
|
Majumdar, A;
Tsochatzis, EA;
(2021)
Non-invasive tests and advanced chronic liver disease in NAFLD: two steps forward and one step back?
[Letter].
Gut
10.1136/gutjnl-2021-325994.
(In press).
|
|
|
Malakasioti, G;
Alders, N;
Lucchini, G;
Cheng, IL;
Bockenhauer, D;
(2019)
Acute kidney injury in an infant with severe combined immunodeficiency: Questions.
Pediatric Nephrology
, 34
pp. 2539-2540.
10.1007/s00467-019-04302-x.
|
|
Malakasioti, G;
Alders, N;
Lucchinni, G;
Cheng, F;
Bockenhauer, D;
(2019)
Acute kidney injury in an infant with severe combined immunodeficiency: Answers.
Pediatric Nephrology
, 34
pp. 2541-2544.
10.1007/s00467-019-04303-w.
|
|
Maldonado, EM;
Taha, F;
Rahman, J;
Rahman, S;
(2019)
Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases.
Frontiers in Genetics
, 10
, Article 19. 10.3389/fgene.2019.00019.
|
|
|
Malik, A;
Tóth, EN;
Teng, MS;
Hurst, J;
Watt, E;
Wise, L;
Kent, N;
... Cooper, N; + view all
(2022)
Distorted TCR repertoires define multisystem inflammatory syndrome in children.
PLoS ONE
, 17
(10)
, Article e0274289. 10.1371/journal.pone.0274289.
|
|
Malik, Amna;
Sayed, Anwar A;
Han, Panpan;
Tan, Michelle MH;
Watt, Eleanor;
Constantinescu-Bercu, Adela;
Cocker, Alexander TH;
... Cooper, Nichola; + view all
(2023)
The role of CD8+ T cell clones in immune thrombocytopenia.
Blood
10.1182/blood.2022018380.
(In press).
|
|
Mamode, N;
Ahmed, Z;
Jones, G;
Banga, N;
Motallebzadeh, R;
Tolley, H;
Stojanovic, J;
... Willicombe, M; + view all
(2021)
Mortality rates in transplant recipients and transplantation candidates in a high prevalence COVID-19 environment.
Transplantation
, 105
(1)
pp. 212-215.
10.1097/TP.0000000000003533.
|
|
Man, Elim;
Mushtaq, Imran;
Barnicoat, Angela;
Carmichael, Polly;
Hughes, Claire R;
Davies, Kate;
Aitkenhead, Helen;
... Achermann, John C; + view all
(2023)
A Single-Center, Observational Study of 607 Children and
Young People Presenting With Differences of Sex
Development (DSD).
Journal of the Endocrine Society
, 7
(1)
, Article bvac165. 10.1210/jendso/bvac165.
|
|
Man, K;
Lau, WCY;
Coghill, D;
Besag, FMC;
Cross, JH;
Ip, P;
Wong, ICK;
(2020)
Association between methylphenidate treatment and risk of seizure: A population-based self-controlled case series study.
The Lancet Child & Adolescent Health
, 4
(6)
pp. 435-443.
10.1016/S2352-4642(20)30100-0.
|
|
Manchanda, R;
Burnell, M;
Gaba, F;
Desai, R;
Wardle, J;
Gessler, S;
Side, L;
... Jacobs, I; + view all
(2020)
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.
BJOG: An International Journal of Obstetrics and Gynaecology
, 127
(3)
pp. 364-375.
10.1111/1471-0528.15905.
|
|
Manchanda, R;
Burnell, M;
Gaba, F;
Sanderson, S;
Loggenberg, K;
Gessler, S;
Wardle, J;
... Beller, U; + view all
(2019)
Attitude towards and factors affecting uptake of population based BRCA testing in the Ashkenazi Jewish population: a cohort study.
BJOG: An International Journal of Obstetrics and Gynaecology
, 126
(6)
pp. 784-794.
10.1111/1471-0528.15654.
|
|
Manea, E;
Gissen, P;
Pope, S;
Heales, SJ;
Batzios, S;
(2018)
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.
JIMD Reports
, 39
pp. 7-12.
10.1007/8904_2017_39.
|
|
Maneas, E;
Aughwane, R;
Huynh, N;
Xia, W;
Ansari, R;
Kuniyil Ajith Singh, M;
Hutchinson, JC;
... Desjardins, AE; + view all
(2019)
Photoacoustic imaging of the human placental vasculature.
Journal of Biophotonics
, 13
(4)
pp. 1214-1229.
10.1002/jbio.201900167.
|
|
|
Maneas, E;
Xia, W;
Nikitichev, DI;
Daher, B;
Manimaran, M;
Wong, RYJ;
Chang, CW;
... Desjardins, AE; + view all
(2018)
Anatomically realistic ultrasound phantoms using gel wax with 3D printed moulds.
Physics in Medicine & Biology
, 63
(1)
, Article 015033. 10.1088/1361-6560/aa9e2c.
|
|
|
Manescu, Petru;
Narayanan, Priya;
Bendkowski, Christopher;
Elmi, Muna;
Claveau, Remy;
Pawar, Vijay;
Brown, Biobele J;
... Fernandez-Reyes, Delmiro; + view all
(2023)
Detection of acute promyelocytic leukemia in peripheral blood and bone marrow with annotation-free deep learning.
Scientific Reports
, 13
(1)
, Article 2562. 10.1038/s41598-023-29160-4.
|
|
Manias, KA;
Harris, LM;
Davies, NP;
Natarajan, K;
MacPherson, L;
Foster, K;
Brundler, M-A;
... Peet, AC; + view all
(2018)
Prospective multicentre evaluation and refinement of an analysis tool for magnetic resonance spectroscopy of childhood cerebellar tumours.
Pediatric Radiology
, 48
(11)
pp. 1630-1641.
10.1007/s00247-018-4182-0.
|
|
Manikam, L;
Allaham, S;
Zakieh, O;
Bou Karim, Y;
Demel, I-C;
Ali, S;
Wilson, E;
... Heys, M; + view all
(2021)
Online community engagement in response to COVID-19 pandemic.
Health Expectations
10.1111/hex.13194.
(In press).
|
|
|
Manjur, Sultan Mohammad;
Diaz, Luis Roberto Mercado;
Lee, Irene O;
Skuse, David H;
Thompson, Dorothy A;
Marmolejos-Ramos, Fernando;
Constable, Paul A;
(2024)
Detecting Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Using Multimodal Time-Frequency Analysis with Machine Learning Using the Electroretinogram from Two Flash Strengths.
Journal of Autism and Developmental Disorders
10.1007/s10803-024-06290-w.
(In press).
|
|
Manole, A;
Efthymiou, S;
O'Connor, E;
Mendes, MI;
Jennings, M;
Maroofian, R;
Davagnanam, I;
... Houlden, H; + view all
(2020)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
American Journal of Human Genetics
, 107
(2)
pp. 311-324.
10.1016/j.ajhg.2020.06.016.
|
|
Mansour, Sherif;
Curry, Joe;
Blackburn, Simon;
Mullassery, Dhanya;
Thakkar, Hemanshoo;
Ballington, Jennifer;
Leukogeorgakis, Stavros;
... De Coppi, Paolo; + view all
(2023)
Minimal access surgery for congenital diaphragmatic hernia: surgical tricks to facilitate anchoring the patches to the ribs.
Pediatric Surgery International
, 39
, Article 135. 10.1007/s00383-022-05303-y.
|
|
|
Marchant, Arnaud;
Van Damme, Pierre;
Plotkin, Stanley;
Neels, Pieter;
Cassetti, Maria Cristina;
Cramer, Jakob;
Gruber, Marion F;
... Vandeputte, Joris; + view all
(2024)
Enabling the evaluation of COVID-19 vaccines with correlates of protection.
Biologicals
, 85
, Article 101723. 10.1016/j.biologicals.2023.101723.
|
|
Marcus, HJ;
Bennett, A;
Chari, A;
Day, T;
Hirst, A;
Hughes-Hallett, A;
Kolias, A;
... McCulloch, P; + view all
(2022)
IDEAL-D Framework for Device Innovation: A Consensus Statement on the Preclinical Stage.
Annals of Surgery
, 275
(1)
pp. 73-79.
10.1097/SLA.0000000000004907.
|
|
Marcus, HJ;
Vakharia, VN;
Ourselin, S;
Duncan, J;
Tisdall, M;
Aquilina, K;
(2018)
Robot-assisted stereotactic brain biopsy: systematic review and bibliometric analysis.
Child's Nervous System
10.1007/s00381-018-3821-y.
|
|
|
Maresh, Kate;
Papageorgiou, Andriani;
Ridout, Deborah;
Harrison, Neil;
Mandy, William;
Skuse, David;
Muntoni, Francesco;
(2022)
Development of a novel startle response task in Duchenne muscular dystrophy.
PLoS ONE
, 17
(4)
, Article e0264091. 10.1371/journal.pone.0264091.
|
|
Marghoub, A;
Libby, J;
Babbs, C;
Pauws, E;
Fagan, M;
Moazen, M;
(2018)
Predicting calvarial growth in normal and craniosynostotic mice using a computational approach.
Journal of Anatomy
, 232
(3)
pp. 440-448.
10.1111/joa.12764.
|
|
Mariot, V;
Joubert, R;
Le Gall, L;
Sidlauskaite, E;
Hourde, C;
Duddy, W;
Voit, T;
... Dumonceaux, J; + view all
(2021)
RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12813.
(In press).
|
|
|
Mariot, Virginie;
Dumonceaux, Julie;
(2022)
Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.
Frontiers in Genome Editing
, 4
, Article 937879. 10.3389/fgeed.2022.937879.
|
|
Mariot, V;
Joubert, R;
Marsollier, A-C;
Hourde, C;
Voit, T;
Dumonceaux, J;
(2020)
A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy.
Molecular Therapy - Nucleic Acids
, 22
pp. 1191-1199.
10.1016/j.omtn.2020.10.028.
|
|
|
Mariot, V;
Le Guiner, C;
Barthelemy, I;
Montus, M;
Blot, S;
Torelli, S;
Morgan, J;
... Dumonceaux, J; + view all
(2020)
Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne Muscular Dystrophy.
Molecular Therapy - Methods and Clinical Development
, 18
pp. 415-421.
10.1016/j.omtm.2020.06.016.
|
|
|
Marlais, M;
Pankhurst, L;
Martin, K;
Mumford, L;
Tizard, EJ;
Marks, SD;
(2018)
Renal allograft survival rates in kidneys initially declined for paediatric transplantation.
Pediatric Nephrology
, 33
(9)
pp. 1609-1616.
10.1007/s00467-018-3969-4.
|
|
|
Marlais, M;
Stojanovic, J;
Jones, H;
Cleghorn, S;
Rees, L;
(2020)
Catch-up growth in children with chronic kidney disease started on enteral feeding after 2 years of age.
Pediatric Nephrology
, 35
(1)
pp. 113-118.
10.1007/s00467-019-04382-9.
|
|
|
Marmoy, Oliver R;
Horvat-Gitsels, Lisanne A;
Cortina-Borja, Mario;
Thompson, Dorothy A;
(2023)
Pattern visual evoked potentials show an inferior-superior topographic shift through maturation in childhood.
The Journal of Physiology
10.1113/JP283408.
(In press).
|
|
Marmoy, OR;
Kinsler, VA;
Henderson, RH;
Handley, SE;
Moore, W;
Thompson, DA;
(2021)
Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Documenta Ophthalmologica
, 142
pp. 119-126.
10.1007/s10633-020-09778-9.
|
|
Maroofian, Reza;
Efthymiou, Stephanie;
Suri, Mohnish;
Rahman, Fatima;
Zaki, Maha S;
Maqbool, Shazia;
Anwa, Najwa;
... Houlden, Henry; + view all
(2022)
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Journal of Medical Genetics
10.1136/jmg-2022-108566.
(In press).
|
|
Maroofian, Reza;
Kaiyrzhanov, Rauan;
Cali, Elisa;
Zamani, Mina;
Zaki, Maha S;
Ferla, Matteo;
Tortora, Domenico;
... Severino, Mariasavina; + view all
(2023)
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
, 146
(12)
pp. 5031-5043.
10.1093/brain/awad257.
|
|
Marsollier, A-C;
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2018)
Targeting the polyadenylation signal of pre-mRNA: a new gene silencing approach for Facioscapulohumeral dystrophy.
International Journal of Molecular Sciences
, 19
(5)
, Article 1347. 10.3390/ijms19051347.
|
|
|
Martens, LG;
Luo, J;
Meulmeester, FL;
Ashrafi, N;
van Eekelen, EW;
de Mutsert, R;
Mook-Kanamori, DO;
... van Heemst, D; + view all
(2020)
Associations between Lifestyle Factors and Vitamin E Metabolites in the General Population.
Antioxidants
, 9
(12)
, Article 1280. 10.3390/antiox9121280.
|
|
|
Martin, D;
Peters, MJ;
(2018)
Might children rust? What are the risks of supplemental oxygen in acute illness.
Archives of Disease in Childhood
, 104
(2)
pp. 106-107.
10.1136/archdischild-2018-315437.
|
|
Martin, K;
Geuens, S;
Asche, JK;
Bodan, R;
Browne, F;
Downe, A;
García García, N;
... Mayre-Chilton, KM; + view all
(2019)
Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines.
Orphanet Journal of Rare Diseases
, 14
(1)
, Article 133. 10.1186/s13023-019-1086-5.
|
|
|
Martin-Almedina, S;
Ogmen, K;
Sackey, E;
Grigoriadis, D;
Karapouliou, C;
Nadarajah, N;
Ebbing, C;
... Ostergaard, P; + view all
(2021)
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genetics in Medicine
10.1038/s41436-021-01136-7.
(In press).
|
|
|
Martin-McGill, KJ;
Lambert, B;
Whiteley, VJ;
Wood, S;
Neal, EG;
Simpson, ZR;
Schoeler, NE;
(2019)
Understanding the core principles of a 'modified ketogenic diet': a UK and Ireland perspective.
Journal of Human Nutrition and Dietetics
, 32
(3)
pp. 385-390.
10.1111/jhn.12637.
|
|
Martino, D;
Schrag, A;
Anastasiou, Z;
Apter, A;
Benaroya-Milstein, N;
Buttiglione, M;
Cardona, F;
... EMTICS Collaborative Group; + view all
(2021)
Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study.
Neurology
, 96
(12)
e1680-e1693.
10.1212/WNL.0000000000011610.
|
|
Masarone, D;
Kaski, JP;
Pacileo, G;
Elliott, PM;
Bossone, E;
Day, SM;
Limongelli, G;
(2018)
Epidemiology and Clinical Aspects of Genetic Cardiomyopathies.
Heart Failure Clinics
, 14
(2)
pp. 119-128.
10.1016/j.hfc.2017.12.007.
|
|
|
Mason, CY;
Kanitkar, T;
Richardson, CJ;
Lanzman, M;
Stone, Z;
Mahungu, T;
Mack, D;
... Pollara, G; + view all
(2021)
Exclusion of bacterial co-infection in COVID-19 using baseline inflammatory markers and their response to antibiotics.
Journal of Antimicrobial Chemotherapy
, 76
(5)
pp. 1323-1331.
10.1093/jac/dkaa563.
|
|
Massaro, G;
Geard, AF;
Liu, W;
Coombe-Tennant, O;
Waddington, SN;
Baruteau, J;
Gissen, P;
(2021)
Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.
Biomolecules
, 11
(4)
, Article 611. 10.3390/biom11040611.
|
|
|
Massaro, G;
Mattar, CNZ;
Wong, AMS;
Sirka, E;
Buckley, SMK;
Herbert, BR;
Karlsson, S;
... Rahim, AA; + view all
(2018)
Fetal gene therapy for neurodegenerative disease of infants.
Nature Medicine
, 24
pp. 1317-1323.
10.1038/s41591-018-0106-7.
|
|
Massias, JS;
Smith, EMD;
Al-Abadi, E;
Armon, K;
Bailey, K;
Ciurtin, C;
Davidson, J;
... Hedrich, CM; + view all
(2020)
Clinical and laboratory characteristics in juvenile-onset systemic lupus erythematosus across age groups.
Lupus
10.1177/0961203320909156.
(In press).
|
|
|
Masson, R;
Mazurkiewicz-Bełdzińska, M;
Rose, K;
Servais, L;
Xiong, H;
Zanoteli, E;
Baranello, G;
... Sposetti, L; + view all
(2022)
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
The Lancet Neurology
, 21
(12)
pp. 1110-1119.
10.1016/S1474-4422(22)00339-8.
|
|
Mateos, MK;
Birdi, N;
Basu, AP;
Wright, M;
Joshi, A;
Annavarapu, S;
Jacques, TS;
... Bailey, S; + view all
(2022)
Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities.
Brain Pathology
, Article e13049. 10.1111/bpa.13049.
(In press).
|
|
|
Matettore, A;
Ray, S;
Harrison, DA;
Brick, T;
Macrae, D;
Peters, MJ;
Inwald, DP;
(2019)
Paediatric intensive care admission blood pressure and risk of death in 30,334 children.
Intensive Care Medicine
, 45
pp. 1482-1483.
10.1007/s00134-019-05638-6.
|
|
Mathis, DT;
Schmidli, J;
Hirschmann, MT;
Amsler, F;
Henckel, J;
Hothi, H;
Hart, A;
(2021)
Comparative retrieval analysis of antioxidant polyethylene: bonding of vitamin-E does not reduce in-vivo surface damage.
BMC Musculoskeletal Disorders
, 22
, Article 1003. 10.1186/s12891-021-04898-y.
|
|
|
Matthews, Jessie;
Dobra, Rebecca;
Wilson, Gemma;
Allen, Lucy;
Bossley, Cara;
Brendell, Rebecca;
Brugha, Rossa;
... Davies, Jane C; + view all
(2024)
Levelling the playing field through the London Network of the UK clinical trials accelerator platform.
Contemporary Clinical Trials Communications
, 39
, Article 101301. 10.1016/j.conctc.2024.101301.
|
|
|
Matthews, E;
Blair, P;
Sisodiya, S;
Jones, S;
Sebire, N;
Behr, E;
Fleming, P;
(2019)
National registry for sudden unexpected deaths of infants and children in England: why do we need one and do families want one?
Archives of Disease in Childhood
10.1136/archdischild-2018-316542.
|
|
|
Maughan, Elizabeth F;
Hynds, Robert E;
Pennycuick, Adam;
Nigro, Ersilia;
Gowers, Kate HC;
Denais, Celine;
Gómez-López, Sandra;
... Janes, Sam M; + view all
(2022)
Cell-intrinsic differences between human airway epithelial cells from children and adults.
iScience
, 25
(11)
, Article 105409. 10.1016/j.isci.2022.105409.
|
|
Maurer, Constance;
Boleti, Olga;
Najarzadeh Torbati, Paria;
Norouzi, Farzaneh;
Fowler, Anna Nicole Rebekah;
Minaee, Shima;
Salih, Khalid Hama;
... Jamshidi, Yalda; + view all
(2023)
Genetic Insights from Consanguineous Cardiomyopathy Families.
Genes
, 14
(1)
, Article 182. 10.3390/genes14010182.
|
|
McAlister, L;
Pugh, P;
Greenbaum, L;
Haffner, D;
Rees, L;
Anderson, C;
Desloovere, A;
... Shroff, R; + view all
(2020)
The dietary management of calcium and phosphate in children with CKD stages 2-5 and on dialysis-clinical practice recommendation from the Pediatric Renal Nutrition Taskforce.
Pediatric Nephrology
, 35
(3)
pp. 501-518.
10.1007/s00467-019-04370-z.
|
|
|
McCann, CJ;
Alves, MM;
Brosens, E;
Natarajan, D;
Perin, S;
Chapman, C;
Hofstra, RM;
... Thapar, N; + view all
(2019)
Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System.
Gastroenterology
, 156
(5)
1483-1495.e6.
10.1053/j.gastro.2018.12.020.
|
|
McCann, CJ;
Borrelli, O;
Thapar, N;
(2018)
Stem cell therapy in severe pediatric motility disorders.
Current Opinion in Pharmacology
, 43
pp. 145-149.
10.1016/j.coph.2018.09.004.
|
|
McCann, LJ;
Pilkington, CA;
Huber, AM;
Ravelli, A;
Appelbe, D;
Kirkham, JJ;
Williamson, PR;
... Beresford, MW; + view all
(2017)
Development of a consensus core dataset in juvenile dermatomyositis for clinical use to inform research.
Annals of the Rheumatic Diseases
, 77
(2)
pp. 241-250.
10.1136/annrheumdis-2017-212141.
|
|
|
McCormick, Elizabeth M;
Keller, Kierstin;
Taylor, Julie P;
Coffey, Alison J;
Shen, Lishuang;
Krotoski, Danuta;
Harding, Brian;
... Rahman, Shamima; + view all
(2023)
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Annals of Neurology
10.1002/ana.26716.
(In press).
|
|
McCrea, N;
Fullerton, HJ;
Ganesan, V;
(2019)
Genetic and Environmental Associations With Pediatric Cerebral Arteriopathy Insights Into Disease Mechanisms.
Stroke
, 50
(2)
pp. 257-265.
10.1161/STROKEAHA.118.020479.
|
|
|
McCreary, D;
Omoyinmi, E;
Hong, Y;
Mulhern, C;
Papadopoulou, C;
Casimir, M;
Hacohen, Y;
... Eleftheriou, D; + view all
(2019)
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
JAMA Network Open
, 2
(10)
, Article e1914274. 10.1001/jamanetworkopen.2019.14274.
|
|
|
McDonald, CM;
Muntoni, F;
Penematsa, V;
Jiang, J;
Kristensen, A;
Bibbiani, F;
Goodwin, E;
... Guglieri, M; + view all
(2021)
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
Journal of Comparative Effectiveness Research
10.2217/cer-2021-0196.
(In press).
|
|
|
McDowell, AR;
Feiweier, T;
Muntoni, F;
Hall, MG;
Clark, CA;
(2022)
Clinically feasible diffusion MRI in muscle: Time dependence and initial findings in Duchenne muscular dystrophy.
Magnetic Resonance in Medicine
, 86
(6)
pp. 3192-3200.
10.1002/mrm.28945.
|
|
McFarlane, FA;
Allcott-Watson, H;
Hadji-Michael, M;
McAllister, E;
Stark, D;
Reilly, C;
Bennett, SD;
... Heyman, I; + view all
(2019)
Cognitive-behavioural treatment of functional neurological symptoms (conversion disorder) in children and adolescents: A case series.
European Journal of Paediatric Neurology
, 23
(2)
pp. 317-328.
10.1016/j.ejpn.2018.12.002.
|
|
McGlacken-Byrne, SM;
Abdelmaksoud, A;
Haini, M;
Palm, L;
Ashworth, M;
Li, J;
Wang, W;
... Dattani, MT; + view all
(2022)
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing’s syndrome and acral cutaneous mucinosis.
European Journal of Endocrinology
, 187
(6)
K55-K61.
10.1530/EJE-22-0287.
|
|
McInnes-Dean, H;
Mellis, R;
Daniel, M;
Walton, H;
Baple, EL;
Bertoli, M;
Fisher, J;
... Peter, M; + view all
(2024)
‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
Prenatal Diagnosis
10.1002/pd.6537.
(In press).
|
|
McKeaveney, C;
Slee, A;
Adamson, G;
Davenport, A;
Farrington, K;
Fouque, D;
Kalantar-Zadeh, K;
... Reid, J; + view all
(2021)
Using a generic definition of cachexia in patients with kidney disease receiving haemodialysis: a longitudinal (pilot) study.
Nephrology Dialysis Transplantation
, 36
(10)
pp. 1919-1926.
10.1093/ndt/gfaa174.
|
|
McMillion, A;
Tobianksy, B;
Wang, K;
Cronin, AJ;
Johnson, A;
Monteiro, J;
Remington, A;
(2022)
UK-based specialist dental professionals' experiences of working with autistic patients.
Special Care in Dentistry
, 42
(2)
pp. 120-136.
10.1111/scd.12653.
|
|
McMillion, A;
Van Herwegen, J;
Johnson, A;
Monteiro, J;
Cronin, AJ;
Remington, A;
(2021)
Dental experiences of a group of autistic adults based in the United Kingdom.
Special Care in Dentistry
10.1111/scd.12583.
(In press).
|
|
|
McNamara, Cillian;
Mankad, Kshitij;
Thust, Stefanie;
Dixon, Luke;
Limback-Stanic, Clara;
D'Arco, Felice;
Jacques, Thomas S;
(2022)
2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist.
Neuroradiology
, 64
pp. 1919-1950.
10.1007/s00234-022-03008-6.
|
|
McTague, A;
Rossignoli, G;
Ferrini, A;
Barral, S;
Kurian, MA;
(2021)
Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies.
Frontiers in Genome Editing
, 3
, Article 630600. 10.3389/fgeed.2021.630600.
|
|
|
Mctague, A;
(2019)
Navigating the genetic landscape of childhood epilepsy: a new perspective?
Developmental Medicine & Child Neurology
, 61
(8)
pp. 858-859.
10.1111/dmcn.14203.
|
|
McTague, A;
Nair, U;
Malhotra, S;
Meyer, E;
Trump, N;
Gazina, EV;
Papandreou, A;
... Kurian, MA; + view all
(2018)
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
, 90
(1)
e55-e66.
10.1212/WNL.0000000000004762.
|
|
|
McWilliam, SJ;
Antoine, DJ;
Jorgensen, AL;
Smyth, RL;
Pirmohamed, M;
(2018)
Urinary Biomarkers of Aminoglycoside-Induced Nephrotoxicity in Cystic Fibrosis: Kidney Injury Molecule-1 and Neutrophil Gelatinase-Associated Lipocalin.
Scientific Reports
, 8
, Article 5094. 10.1038/s41598-018-23466-4.
|
|
|
McWilliams, A;
Reilly, C;
Gupta, J;
Hadji-Michael, M;
Srinivasan, R;
Heyman, I;
(2019)
Autism spectrum disorder in children and young people with non-epileptic seizures.
Seizure
, 73
pp. 51-55.
10.1016/j.seizure.2019.10.022.
|
|
Mehta, P;
Bunker, CB;
Ciurtin, C;
Porter, JC;
Chambers, RC;
Papdopoulou, C;
Garthwaite, H;
... Denton, CP; + view all
(2021)
Chilblain-like acral lesions in long COVID-19: management and implications for understanding microangiopathy.
The Lancet Infectious Diseases
, 21
(7)
p. 912.
10.1016/s1473-3099(21)00133-x.
|
|
Mehta, P;
Sanchez, E;
Moraitis, E;
Longley, N;
Lendrem, DW;
Giles, IP;
Chambers, RC;
... Isaacs, JD; + view all
(2021)
Influenza vaccination and interruption of methotrexate in adult patients in the COVID-19 era: an ongoing dilemma.
The Lancet Rheumatology
, 3
(1)
e9-e10.
10.1016/s2665-9913(20)30392-1.
|
|
Méjécase, C;
Harding, P;
Sarkar, H;
Eintracht, J;
Lima Cunha, D;
Toualbi, L;
Moosajee, M;
(2020)
Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions.
Stem Cell Research
, 49
, Article 102113. 10.1016/j.scr.2020.102113.
|
|
|
Méjécase, C;
Kozak, I;
Moosajee, M;
(2020)
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, 184
(3)
pp. 762-772.
10.1002/ajmg.c.31824.
|
|
|
Méjécase, C;
Malka, S;
Guan, Z;
Slater, A;
Arno, G;
Moosajee, M;
(2020)
Practical guide to genetic screening for inherited eye diseases.
Therapeutic Advances in Ophthalmology
, 12
pp. 1-28.
10.1177/2515841420954592.
|
|
|
Méjécase, C;
Nigam, C;
Moosajee, M;
Bladen, JC;
(2021)
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Genes
, 12
(3)
, Article 364. 10.3390/genes12030364.
|
|
|
Méjécase, C;
Way, CM;
Owen, N;
Moosajee, M;
(2021)
Ocular Phenotype Associated with DYRK1A Variants.
Genes
, 12
(2)
, Article 234. 10.3390/genes12020234.
|
|
|
Melega, Simone;
Brogan, Paul;
Cleary, Gavin;
Hersh, Aimee O;
Kasapcopur, Ozgur;
Rangaraj, Satyapal;
Yeung, Rae SM;
... Lehane, Patricia B; + view all
(2022)
Evaluation of Serious Infection in Pediatric Patients with Low Immunoglobulin Levels Receiving Rituximab for Granulomatosis with Polyangiitis or Microscopic Polyangiitis.
Rheumatology and Therapy
, 9
(2)
pp. 721-734.
10.1007/s40744-022-00433-0.
|
|
Mellis, R;
Eberhardt, RY;
Hamilton, SJ;
McMullan, DJ;
Kilby, MD;
Maher, ER;
Hurles, ME;
... Chitty, LS; + view all
(2022)
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
BJOG: An International Journal of Obstetrics & Gynaecology
, 129
(1)
pp. 52-61.
10.1111/1471-0528.16869.
|
|
Mellis, R;
Chandler, N;
Chitty, LS;
(2018)
Next-generation sequencing and the impact on prenatal diagnosis.
Expert Review of Molecular Diagnostics
, 18
(8)
pp. 689-699.
10.1080/14737159.2018.1493924.
|
|
Mellis, R;
Chandler, N;
Jenkins, L;
Chitty, LS;
(2020)
The role of sonographic phenotyping in delivering an efficient non-invasive prenatal diagnosis (NIPD) service for FGFR3-related skeletal dysplasias.
Prenatal Diagnosis
, 40
(7)
pp. 785-791.
10.1002/pd.5687.
|
|
Melo Gomes, S;
Dias, C;
Omoyinmi, E;
Compeyrot-Lacassagne, S;
Klein, N;
Sebire, NJ;
Brogan, P;
(2019)
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
Pediatrics
, 144
(1)
, Article e20181741. 10.1542/peds.2018-1741.
|
|
Mencacci, NE;
Steel, D;
Magrinelli, F;
Hsu, J;
Sarmiento, IJK;
Schifferli, MT;
Munoz, D;
... Stamelou, M; + view all
(2021)
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Movement Disorder
, 36
(6)
pp. 1472-1473.
10.1002/mds.28634.
|
|
Mencacci, NE;
Brockmann, MM;
Dai, J;
Pajusalu, S;
Atasu, B;
Campos, J;
Pino, G;
... Acuna, C; + view all
(2021)
Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia.
Journal of Clinical Investigation (JCI)
, 131
(7)
, Article e140625. 10.1172/JCI140625.
|
|
|
Meng, J;
Counsell, J;
Morgan, JE;
(2020)
Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells.
International Journal of Molecular Sciences
, 21
(19)
, Article 7168. 10.3390/ijms21197168.
|
|
|
Meng, J;
Muntoni, F;
Morgan, J;
(2018)
CD133+cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability.
Stem Cell Research
, 30
pp. 43-52.
10.1016/j.scr.2018.05.004.
|
|
|
Mengrelis, K;
Kucera, F;
Shahid, N;
Watt, E;
Ross, S;
Lau, C-I;
Adams, S;
... Davies, EG; + view all
(2021)
T cell phenotype in paediatric heart transplant recipients.
Pediatric Transplantation
, 25
(5)
10.1111/petr.13930.
|
|
|
Menys, A;
Saliakellis, E;
Borrelli, O;
Thapar, N;
Taylor, SA;
Watson, T;
(2018)
The evolution of magnetic resonance enterography in the assessment of motility disorders in children.
European Journal of Radiology
, 107
pp. 105-110.
10.1016/j.ejrad.2018.08.017.
|
|
Meran, L;
Tullie, L;
Eaton, Simon;
De Coppi, P;
Li, V;
(2023)
Bioengineering human intestinal mucosal grafts using patient derived organoids, fibroblasts and scaffolds.
Nature Protocols
, 18
pp. 108-135.
10.1038/s41596-022-00751-1.
|
|
Meran, L;
Massie, I;
Campinoti, S;
Weston, AE;
Gaifulina, R;
Tullie, L;
Faull, P;
... Li, VSW; + view all
(2020)
Engineering transplantable jejunal mucosal grafts using patient-derived organoids from children with intestinal failure.
Nature Medicine
, 26
pp. 1593-1601.
10.1038/s41591-020-1024-z.
|
|
Mercuri, Eugenio;
Baranello, Giovanni;
Boespflug-Tanguy, Odile;
De Waele, Liesbeth;
Goemans, Nathalie;
Kirschner, Janbernd;
Masson, Riccardo;
... Servais, Laurent; + view all
(2022)
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
European Journal of Neurology
10.1111/ene.15499.
(In press).
|
|
Mercuri, E;
Bonnemann, CG;
Muntoni, F;
(2019)
Muscular dystrophies.
The Lancet
, 394
(10213)
pp. 2025-2038.
10.1016/S0140-6736(19)32910-1.
|
|
Mercuri, E;
Muntoni, F;
Osorio, AN;
Tulinius, M;
Buccella, F;
Morgenroth, LP;
Gordish-Dressman, H;
... CINRG Duchenne Natural History Investigators; + view all
(2020)
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.
Journal of Comparative Effectiveness Research
10.2217/cer-2019-0171.
|
|
|
Meshaka, R;
Dos Santos, DP;
Arthurs, OJ;
Sebire, NJ;
Shelmerdine, SC;
(2021)
Artificial intelligence reporting guidelines: what the pediatric radiologist needs to know.
Pediatric Radiology
10.1007/s00247-021-05129-1.
(In press).
|
|
Mesraoua, Boulenouar;
Cross, J Helen;
Perucca, Emilio;
Asadi-Pooya, Ali A;
(2022)
Epilepsy management during difficult times.
Epileptic Disorders: international epilepsy journal with videotape
, 24
(5)
pp. 787-794.
10.1684/epd.2022.1453.
|
|
Messina, M;
Gissen, P;
(2023)
Atidarsagene autotemcel for metachromatic leukodystrophy.
Drugs of Today
, 59
(2)
pp. 63-70.
10.1358/dot.2023.59.2.3461911.
|
|
Mestach, L;
Polubothu, S;
Calder, A;
Denayer, E;
Gholam, K;
Legius, E;
Levtchenko, E;
... Morren, M-A; + view all
(2020)
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatric Dermatology
, 37
(5)
pp. 890-895.
10.1111/pde.14254.
|
|
Mestek-Boukhibar, L;
Clement, E;
Jones, WD;
Drury, S;
Ocaka, L;
Gagunashvili, A;
Le Quesne Stabej, P;
... Williams, HJ; + view all
(2018)
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Journal of Medical Genetics
, 55
(11)
pp. 721-728.
10.1136/jmedgenet-2018-105396.
|
|
|
Meulmeester, FL;
Luo, J;
Martens, LG;
Mills, K;
van Heemst, D;
Noordam, R;
(2023)
Antioxidant Supplementation in Oxidative Stress-Related Diseases: What Have We Learned from Studies on Alpha-Tocopherol?
Antioxidants
, 11
(12)
, Article 2322. 10.3390/antiox11122322.
|
|
Meulmeester, Fleur L;
Luo, Jiao;
Martens, Leon G;
Ashrafi, Nadia;
de Mutsert, Renee;
Mook-Kanamori, Dennis O;
Lamb, Hildo J;
... Noordam, Raymond; + view all
(2021)
Association of measures of body fat with serum alpha-tocopherol and its metabolites in middle-aged individuals.
Nutrition, Metabolism & Cardiovascular Diseases
, 31
(8)
pp. 2407-2415.
10.1016/j.numecd.2021.05.001.
|
|
|
Michaelides, Michel;
Hirji, Nashila;
Wong, Sui Chien;
Besirli, Cagri G;
Zaman, Serena;
Kumaran, Neruban;
Georgiadis, Anastasios;
... Bainbridge, James; + view all
(2023)
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.
American Journal of Ophthalmology
, 253
pp. 243-251.
10.1016/j.ajo.2023.05.009.
|
|
Michelozzi, Ilaria M;
Gomez-Castaneda, Eduardo;
Pohle, Ruben VC;
Cardoso Rodriguez, Ferran;
Sufi, Jahangir;
Puigdevall-Costa, Pau;
Subramaniyam, Meera;
... Giustacchini, Alice; + view all
(2022)
Activation priming and cytokine polyfunctionality modulate the enhanced functionality of low-affinity CD19 CAR T cells.
Blood Advances
10.1182/bloodadvances.2022008490.
(In press).
|
|
Michielin, F;
Giobbe, GG;
Luni, C;
Hu, Q;
Maroni, I;
Orford, MR;
Manfredi, A;
... Elvassore, N; + view all
(2020)
The Microfluidic Environment Reveals a Hidden Role of Self-Organizing Extracellular Matrix in Hepatic Commitment and Organoid Formation of hiPSCs.
Cell Reports
, 33
(9)
, Article 108453. 10.1016/j.celrep.2020.108453.
|
|
|
Milano, EG;
Capelli, C;
Wray, J;
Biffi, B;
Layton, S;
Lee, M;
Caputo, M;
... Biglino, G; + view all
(2018)
Current and future applications of 3D printing in congenital cardiology and cardiac surgery.
British Journal of Radiology
, 92
(1094)
, Article 20180389. 10.1259/bjr.20180389.
|
|
Milano, EG;
Pajaziti, E;
Sauvage, E;
Cook, A;
Schievano, S;
Mortensen, KH;
Taylor, AM;
... Capelli, C; + view all
(2019)
Taking surgery out of reality: A virtual journey into double outlet right ventricle.
Circulation: Cardiovascular Imaging
, 12
(7)
, Article e009297. 10.1161/CIRCIMAGING.119.009297.
|
|
Milev, Evelin;
Selby, Victoria;
Wolfe, Amy;
Rohwer, Annemarie;
Tillmann, Ricarda;
Ramsey, Danielle;
Iodice, Mario;
... Muntoni, Francesco; + view all
(2024)
Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3.
Muscle Nerve
10.1002/mus.28041.
(In press).
|
|
Minhas, K;
Roebuck, DJ;
Barnacle, A;
De Coppi, P;
Sebire, N;
Patel, PA;
(2019)
Diagnostic yield and safety of ultrasound-guided bowel mass biopsies in children.
Pediatric Radiology
10.1007/s00247-019-04472-8.
(In press).
|
|
|
Minskaia, Ekaterina;
Maimaris, Jesmeen;
Jenkins, Persephone;
Albuquerque, Adriana S;
Hong, Ying;
Eleftheriou, Despina;
Gilmour, Kimberly C;
... Burns, Siobhan O; + view all
(2023)
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Journal of Clinical Immunology
10.1007/s10875-023-01530-7.
(In press).
|
|
|
Mishra, Avijeet Kumar;
Burridge, Saskia;
Espuelas, Macarena Oporto;
O'Reilly, Maeve;
Cummins, Michelle;
Nicholson, Emma;
Wheldon, Sophie;
... Ghorashian, Sara; + view all
(2024)
Practice guideline: Preparation for CAR T-cell therapy in children and young adults with B-acute lymphoblastic leukaemia.
British Journal of Haematology
10.1111/bjh.19381.
(In press).
|
|
Mitra, S;
Bale, G;
Highton, D;
Gunny, R;
Uria-Avellanal, C;
Bainbridge, A;
Sokolska, M;
... Robertson, NJ; + view all
(2017)
Pressure passivity of cerebral mitochondrial metabolism is associated with poor outcome following perinatal hypoxic ischemic brain injury.
Journal of Cerebral Blood Flow & Metabolism
10.1177/0271678X17733639.
(In press).
|
|
|
Mitsios, A;
Dubis, AM;
Moosajee, M;
(2018)
Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.
Therapeutic Advances in Ophthalmology
, 10
10.1177/2515841418817490.
(In press).
|
|
|
Mitta, N;
Menon, RN;
McTague, A;
Radhakrishnan, A;
Sundaram, S;
Cherian, A;
Madhavilatha, GK;
... Thomas, SV; + view all
(2020)
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy Research
, 166
, Article 106398. 10.1016/j.eplepsyres.2020.106398.
|
|
Mitting, Rebecca;
Fitchett, Elizabeth JA;
Peters, Mark J;
Ray, Samiran;
(2023)
Prescription of Steroids in General Pediatric Intensive Care Patients—A Two-Center Retrospective Observational Study.
Pediatric Critical Care Medicine
, 24
(1)
e54-e59.
10.1097/PCC.0000000000003093.
|
|
Mizia-Stec, K;
Caforio, ALP;
Charron, P;
Gimeno, JR;
Elliott, P;
Kaski, JP;
Maggioni, AP;
... Tendera, M; + view all
(2020)
Atrial fibrillation, anticoagulation management and risk of stroke in the Cardiomyopathy/Myocarditis registry of the EURObservational Research Programme of the European Society of Cardiology.
ESC Heart Failure
10.1002/ehf2.12854.
(In press).
|
|
|
Mizia-Stec, K;
Charron, P;
Gimeno Blanes, JR;
Elliott, P;
Kaski, JP;
Maggioni, AP;
Tavazzi, L;
... EORP Cardiomyopathy Registry Investigators, .; + view all
(2021)
Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry.
European Heart Journal - Cardiovascular Imaging
10.1093/ehjci/jeaa329.
(In press).
|
|
|
Mizrahi, Eli M;
Pressler, Ronit M;
(2022)
The International League Against Epilepsy New Classification of Neonatal Seizures.
Pediatrics
, 150
(5)
, Article e2022058114. 10.1542/peds.2022-058114.
|
|
Modin, L;
Ng, V;
Gissen, P;
Raiman, J;
Pfister, ED;
Das, A;
Santer, R;
... Baumann, U; + view all
(2021)
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
Children
, 8
(9)
, Article 819. 10.3390/children8090819.
|
|
|
Mohamed, M;
Mediratta, S;
Chari, A;
da Costa, CS;
James, G;
Dawes, W;
Aquilina, K;
(2021)
Post-haemorrhagic hydrocephalus is associated with poorer surgical and neurodevelopmental sequelae than other causes of infant hydrocephalus.
Child's Nervous System
10.1007/s00381-021-05226-4.
|
|
|
Mohammad, SS;
Angiti, RR;
Biggin, A;
Morales-Briceño, H;
Goetti, R;
Perez-Dueñas, B;
Gregory, A;
... Basal Ganglia MRI Study Group; + view all
(2020)
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Brain Communications
, 2
(2)
, Article fcaa178. 10.1093/braincomms/fcaa178.
|
|
|
Mohan, M;
Islim, AI;
Rasul, FT;
Rominiyi, O;
deSouza, R-M;
Poon, MTC;
Jamjoom, AAB;
... British Neurosurgical Trainee Research Collaborative, .; + view all
(2019)
Subarachnoid haemorrhage with negative initial neurovascular imaging: a systematic review and meta-analysis.
Acta Neurochirurgica
10.1007/s00701-019-04025-w.
|
|
|
Mok, GF;
Folkes, L;
Weldon, SA;
Maniou, E;
Martinez-Heredia, V;
Godden, AM;
Williams, RM;
... Münsterberg, AE; + view all
(2021)
Characterising open chromatin in chick embryos identifies cis-regulatory elements important for paraxial mesoderm formation and axis extension.
Nature Communications
, 12
(1)
, Article 1157. 10.1038/s41467-021-21426-7.
|
|
|
Mole, SE;
Anderson, G;
Band, HA;
Berkovic, SF;
Cooper, JD;
Kleine Holthaus, S-M;
McKay, TR;
... Smith, AJ; + view all
(2019)
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
[Review].
Lancet Neurology
, 18
(1)
pp. 107-116.
10.1016/S1474-4422(18)30368-5.
|
|
Mole, SE;
Schulz, A;
Badoe, E;
Berkovic, SF;
de Los Reyes, EC;
Dulz, S;
Gissen, P;
... Williams, RE; + view all
(2021)
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Orphanet Journal of Rare Diseases
, 16
(1)
p. 185.
10.1186/s13023-021-01813-5.
|
|
|
Molnár, E;
Radwan, N;
Kovács, G;
Andrikovics, H;
Henriquez, F;
Zarafov, A;
Hayman, M;
... Gilmour, K; + view all
(2020)
Key diagnostic markers for Autoimmune Lymphoproliferative Syndrome with molecular genetic diagnosis.
Blood
, 136
(17)
pp. 1933-1945.
10.1182/blood.2020005486.
|
|
Monda, Emanuele;
Bakalakos, Athanasios;
Cannie, Douglas;
O'Mahony, Constantinos;
Syrris, Petros;
Kaski, Juan Pablo;
Limongelli, Giuseppe;
(2024)
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Acute Myocarditis: A Systematic Review and Meta-Analysis.
JACC: Heart Failure
, 12
(6)
pp. 1101-1111.
10.1016/j.jchf.2024.02.012.
|
|
Mondal, A;
Rodriguez-Florez, N;
O'Hara, J;
Ong, J;
Jeelani, NUO;
Dunaway, DJ;
James, G;
(2019)
Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis.
Child's Nervous System
, 35
(3)
pp. 501-507.
10.1007/s00381-019-04059-6.
|
|
|
Mone, F;
Eberhardt, RY;
Morris, RK;
Hurles, ME;
Mcmullan, DJ;
Maher, ER;
Lord, J;
... Kilby, MD; + view all
(2021)
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review.
Ultrasound in Obstetrics & Gynecology
, 57
(1)
pp. 43-51.
10.1002/uog.22072.
|
|
Montagnese, Federica;
de Valle, Katy;
Lemmers, Richard JLF;
Mul, Karlien;
Dumonceaux, Julie;
Voermans, Nicol;
(2023)
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.
Neuromuscular Disorders
, 33
(5)
pp. 447-462.
10.1016/j.nmd.2023.04.005.
|
|
Montalt-Tordera, Javier;
Steeden, Jennifer A;
Muthurangu, Vivek;
(2023)
Editorial for "Automatic Time-Resolved Cardiovascular Segmentation of 4D Flow MRI Using Deep Learning".
[Editorial comment].
Journal of Magnetic Resonance Imaging
, 57
(1)
pp. 204-205.
10.1002/jmri.28220.
|
|
Montalt-Tordera, J;
Kowalik, G;
Gotschy, A;
Steeden, J;
Muthurangu, V;
(2020)
Rapid 3D whole-heart cine imaging using golden ratio stack of spirals.
Magnetic Resonance Imaging
, 72
pp. 1-7.
10.1016/j.mri.2020.06.008.
|
|
Montalt-Tordera, J;
Quail, M;
Steeden, JA;
Muthurangu, V;
(2021)
Reducing Contrast Agent Dose in Cardiovascular MR Angiography with Deep Learning.
Journal of Magnetic Resonance Imaging
10.1002/jmri.27573.
(In press).
|
|
|
Moorman, AV;
Schwab, C;
Winterman, E;
Hancock, J;
Castleton, A;
Cummins, M;
Gibson, B;
... Vora, A; + view all
(2020)
Adjuvant tyrosine kinase inhibitor therapy improves outcome for children and adolescents with acute lymphoblastic leukaemia who have an ABL‐class fusion.
British Journal of Haematology
10.1111/bjh.17093.
(In press).
|
|
|
Moosajee, M;
Ali, MA;
Wong, SC;
(2018)
Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait.
JAMA Ophthalmology
, 136
(11)
, Article e183140. 10.1001/jamaophthalmol.2018.3140.
|
|
Moraitis, E;
Stathopoulos, Y;
Hong, Y;
Al-Obaidi, M;
Mankad, K;
Hacohen, Y;
Sen, D;
... Eleftheriou, D; + view all
(2019)
Aquaporin-4 IgG antibody-related disorders in patients with juvenile systemic lupus erythematosus.
Lupus
, 28
(10)
1243 -1249.
10.1177/0961203319855125.
|
|
|
Moralidou, M;
Di Laura, A;
Henckel, J;
Hothi, H;
Hart, AJ;
(2020)
Three-dimensional pre-operative planning of primary hip arthroplasty: a systematic literature review.
EFORT Open Reviews
, 5
(12)
pp. 845-855.
10.1302/2058-5241.5.200046.
|
|
|
Moran, I;
Avery, DT;
Payne, K;
Lenthall, H;
Davies, EG;
Burns, S;
Ip, W;
... Phan, TG; + view all
(2019)
B cell–intrinsic requirement for STK4 in humoral immunity in mice and human subjects.
Journal of Allergy and Clinical Immunology
, 143
(6)
pp. 2302-2305.
10.1016/j.jaci.2019.02.010.
|
|
Morandi, G;
Cerbone, M;
Lamback, EB;
Rapti, E;
Dattani, MT;
(2018)
45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype.
The Journal of Clinical Endocrinology and Metabolism
, 103
(6)
pp. 2079-2082.
10.1210/jc.2017-02671.
|
|
|
Morava, E;
Baumgartner, M;
Patterson, M;
Peters, V;
Rahman, S;
(2020)
Newborn Screening: To WES or not to WES, that is the question.
Journal of Inherited Metabolic Disease
, 43
(5)
pp. 904-905.
10.1002/jimd.12303.
|
|
Morava, E;
Jacques, TS;
(2020)
Free virtual issue: novel paradigms for in inborn errors with muscular and central neuropathology.
Neuropathology and Applied Neurobiology
, 46
(6)
pp. 517-518.
10.1111/nan.12657.
|
|
Morera, Cristina;
Kim, Jihee;
Paredes-Redondo, Amaia;
Nobles, Muriel;
Rybin, Denis;
Moccia, Robert;
Kowala, Anna;
... Lin, Yung-Yao; + view all
(2022)
CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model.
Neuromuscular Disorders
10.1016/j.nmd.2022.10.007.
(In press).
|
|
Morfopoulou, Sofia;
Buddle, Sarah;
Montaguth, Oscar Enrique Torres;
Atkinson, Laura;
Guerra-Assunção, José Afonso;
Marjaneh, Mahdi Moradi;
Chiozzi, Riccardo Zenezini;
... Breuer, Judith; + view all
(2023)
Genomic investigations of unexplained acute hepatitis in children.
Nature
10.1038/s41586-023-06003-w.
(In press).
|
|
Morgan, A;
Hartmanis, S;
Tsochatzis, E;
Newsome, PN;
Ryder, SD;
Elliott, R;
Floros, L;
... Pezzullo, L; + view all
(2021)
Disease burden and economic impact of diagnosed non-alcoholic steatohepatitis (NASH) in the United Kingdom (UK) in 2018.
The European Journal of Health Economics
10.1007/s10198-020-01256-y.
(In press).
|
|
|
Morgan, J;
Butler-Browne, G;
Muntoni, F;
Patel, K;
Skeletal Muscle Stem Cells Involvement in Pathology Study Group;
(2019)
240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands.
Neuromuscular Disorders
, 29
(9)
pp. 704-715.
10.1016/j.nmd.2019.07.003.
|
|
Morgan, JE;
Prola, A;
Mariot, V;
Pini, V;
Meng, J;
Hourde, C;
Dumonceaux, J;
... Bencze, M; + view all
(2018)
Publisher Correction: Necroptosis Mediates Myofibre Death in Dystrophin-deficient Mice.
[Corrigendum].
Nature Communications
, 9
(1)
, Article 4107. 10.1038/s41467-018-06636-w.
|
|
|
Morgan, JE;
Prola, A;
Mariot, V;
Pini, V;
Meng, J;
Hourde, C;
Dumonceaux, J;
... Bencze, M; + view all
(2018)
Necroptosis mediates myofibre death in dystrophin-deficient mice.
Nature Communications
, 9
, Article 3655. 10.1038/s41467-018-06057-9.
|
|
|
Moriarty, O;
Tu, Y;
Sengar, AS;
Salter, MW;
Beggs, S;
Walker, SM;
(2019)
Priming of adult incision response by early life injury: neonatal microglial inhibition has persistent but sexually dimorphic effects in adult rats.
Journal of Neuroscience
, 39
(16)
pp. 3081-3093.
10.1523/JNEUROSCI.1786-18.2019.
|
|
|
Morin, L;
Kneyber, M;
Jansen, NJG;
Peters, MJ;
Javouhey, E;
Nadel, S;
Maclaren, G;
... ESPNIC Refractory Septic Shock Definition taskforce and the Infe; + view all
(2019)
Translational gap in pediatric septic shock management: an ESPNIC perspective.
Annals of Intensive Care
, 9
, Article 73. 10.1186/s13613-019-0545-4.
|
|
|
Morsy, Heba;
Benkirane, Mehdi;
Cali, Elisa;
Rocca, Clarissa;
Zhelcheska, Kristina;
Cipriani, Valentina;
Galanaki, Evangelia;
... Genomics England Research Consortium; + view all
(2022)
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genetics in Medicine
10.1016/j.gim.2022.09.013.
(In press).
|
|
Morton, Sarah U;
Christodoulou, John;
Costain, Gregory;
Muntoni, Francesco;
Wakeling, Emma;
Wojcik, Monica H;
French, Courtney E;
... Agrawal, Pankaj B; + view all
(2022)
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
JAMA Neurology
, 79
(4)
pp. 405-413.
10.1001/jamaneurol.2022.0067.
|
|
|
Moscatelli, S;
Pergola, V;
Motta, R;
Fortuni, F;
Borrelli, N;
Sabatino, J;
Leo, I;
... di Salvo, G; + view all
(2023)
Multimodality Imaging Assessment of Tetralogy of Fallot: From Diagnosis to Long-Term Follow-Up.
Children
, 10
(11)
, Article 1747. 10.3390/children10111747.
|
|
Moscatelli, Sara;
Leo, Isabella;
Bianco, Francesco;
Surkova, Elena;
Pezel, Théo;
Donald, Natasha Alexandra;
Triumbari, Elizabeth Katherine Anna;
... Perrone, Marco Alfonso; + view all
(2023)
The Role of Multimodality Imaging in Patients with Congenital Heart Disease and Infective Endocarditis.
Diagnostics
, 13
(24)
, Article 3638. 10.3390/diagnostics13243638.
|
|
Moseley, Philip;
Bamford, Alasdair;
Eisen, Sarah;
Lyall, Hermione;
Kingston, Margaret;
Thorne, Claire;
Piñera, Cecilia;
... Kadambari, Seilesh; + view all
(2024)
Resurgence of congenital syphilis: new strategies against an old foe.
The Lancet Infectious Diseases
, 24
(1)
e24-e35.
10.1016/S1473-3099(23)00314-6.
|
|
Moudgil-Joshi, J;
Venkatesh, A;
Borchert, R;
Chari, A;
(2020)
Letter to the Editor: Why Are Aspiring Neurosurgeons Considering Leaving the National Health Service to Pursue a Career in North America?
World Neurosurgery
, 142
pp. 580-581.
10.1016/j.wneu.2020.07.204.
|
|
Moyle, LA;
Tedesco, FS;
Benedetti, S;
(2019)
Pericytes in Muscular Dystrophies.
Advances in Experimental Medicine and Biology
, 1147
pp. 319-344.
10.1007/978-3-030-16908-4_15.
|
|
Mudde, ACA;
Booth, C;
Marsh, RA;
(2021)
Evolution of Our Understanding of XIAP Deficiency.
Frontiers in Pediatrics
, 9
, Article 660520. 10.3389/fped.2021.660520.
|
|
|
Mudde, Anne CA;
Kuo, Caroline Y;
Kohn, Donald B;
Booth, Claire;
(2024)
What a Clinician Needs to Know About Genome Editing: Status and Opportunities for Inborn Errors of Immunity.
The Journal of Allergy and Clinical Immunology: In Practice
10.1016/j.jaip.2024.01.019.
(In press).
|
|
Mueller, Sabine;
Fangusaro, Jason;
Thomas, Arzu Onar;
Jacques, Thomas S;
Bandopadhayay, Pratiti;
de Blank, Peter;
Packer, Roger J;
... Witt, Olaf; + view all
(2024)
Consensus framework for conducting phase I/II clinical trials for children, adolescents, and young adults with pediatric low-grade glioma: Guidelines established by the International Pediatric Low-Grade Glioma Coalition Clinical Trial Working Group.
Neuro-Oncology
, 26
(3)
pp. 407-416.
10.1093/neuonc/noad227.
|
|
Muenchhoff, M;
Healy, M;
Singh, R;
Roider, J;
Groll, A;
Kindra, C;
Sibaya, T;
... Archary, M; + view all
(2018)
Malnutrition in HIV-Infected Children Is an Indicator of Severe Disease with an Impaired Response to Antiretroviral Therapy.
AIDS Research and Human Retroviruses
, 34
(1)
pp. 46-55.
10.1089/AID.2016.0261.
|
|
|
Mufti, N;
Ebner, M;
Patel, P;
Aertsen, M;
Gaunt, T;
Humphries, PD;
Bredaki, FE;
... David, AL; + view all
(2021)
Super-resolution Reconstruction MRI Application in Fetal Neck Masses and Congenital High Airway Obstruction Syndrome.
OTO Open
, 5
(4)
pp. 1-11.
10.1177/2473974x211055372.
|
|
|
Mufti, N;
Sacco, A;
Aertsen, M;
Ushakov, F;
Ourselin, S;
Thomson, D;
Deprest, J;
... David, AL; + view all
(2021)
What brain abnormalities can magnetic resonance imaging detect in foetal and early neonatal spina bifida: a systematic review.
Neuroradiology
10.1007/s00234-021-02853-1.
(In press).
|
|
|
Mufti, Nada;
Aertsen, Michael;
Thomson, Dominic;
De Vloo, Phillippe;
Demaerel, Philippe;
Deprest, Jan;
Melbourne, Andrew;
... GIFT-Surg Imaging Working Group, .; + view all
(2023)
Longitudinal MRI in the context of in utero surgery for open spina bifida: A descriptive study.
Acta Obstetricia et Gynecologica Scandinavica
10.1111/aogs.14711.
(In press).
|
|
Mufti, Nada;
Chappell, Joanna;
O'Brien, Patrick;
Attilakos, George;
Irzan, Hassna;
Sokolska, Magda;
Narayanan, Priya;
... Melbourne, Andrew; + view all
(2022)
Use of Super Resolution Reconstruction MRI for surgical planning in Placenta Accreta Spectrum Disorder: Case Series.
Placenta
, 142
pp. 36-45.
10.1016/j.placenta.2023.08.066.
|
|
Mufti, N;
Aertsen, M;
Ebner, M;
Fidon, L;
Patel, P;
Rahman, MBA;
Brackenier, Y;
... Melbourne, A; + view all
(2021)
Cortical spectral matching and shape and volume analysis of the fetal brain pre- and post-fetal surgery for spina bifida: a retrospective study.
Neuroradiology
10.1007/s00234-021-02725-8.
(In press).
|
|
|
Muhly, WT;
Taylor, E;
Razavi, C;
Walker, SM;
Yang, L;
de Graaff, JC;
Vutskits, L;
... Pediatric Perioperative Outcomes Group, .; + view all
(2020)
A systematic review of outcomes reported inpediatric perioperative research: A report from the Pediatric Perioperative Outcomes Group.
Pediatric Anesthesia
, 30
(11)
pp. 1166-1182.
10.1111/pan.13981.
|
|
Mulhern, CM;
Hong, Y;
Omoyinmi, E;
Jacques, T;
D'Arco, F;
Hemingway, C;
Brogan, PA;
(2019)
Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation.
Journal of Allergy and Clinical Immunology
, 144
(3)
863-866.e5.
10.1016/j.jaci.2019.05.026.
|
|
|
Mullanfiroze, Khushnuma;
Lazareva, Arina;
Chu, Jan;
Williams, Lindsey;
Burridge, Saskia;
M Furtado Silva, Juliana;
Chiesa, Robert;
... Amrolia, Persis Jal; + view all
(2022)
CD34^{+}-selected stem cell boost can safely improve cytopenias following CAR-T therapy.
Blood Advances
, 6
(16)
10.1182/bloodadvances.2022007572.
|
|
Mullassery, D;
Iacona, R;
Cross, K;
Blackburn, S;
Kiely, E;
Eaton, S;
Curry, J;
(2018)
Loop colostomies are safe in anorectal malformations.
Journal of Pediatric Surgery
, 53
(11)
pp. 2170-2173.
10.1016/j.jpedsurg.2018.05.022.
|
|
Müller, HL;
Merks, JHM;
Geoerger, B;
Grill, J;
Hargrave, D;
Glade Bender, J;
Gururangan, S;
... Fürst-Recktenwald, S; + view all
(2019)
Integrated analysis of long-term growth and bone development in pediatric and adolescent patients receiving bevacizumab.
Pediatric Blood and Cancer
, 66
(2)
, Article e27487. 10.1002/pbc.27487.
|
|
Müller, PL;
Treis, T;
Alsaedi, A;
Webster, AR;
Khaw, P;
Michaelides, M;
Wickham, L;
... Egan, C; + view all
(2021)
Foveal structure and visual function in nanophthalmos and posterior microphthalmos.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318717.
(In press).
|
|
|
Mulligan, Kathleen;
Hirani, Shashivadan P;
Harris, Sally;
Taylor, Jo;
Wedderburn, Lucy R;
Newman, Stanton;
(2022)
The Effects of a Web-Based Tool for Parents of Children With Juvenile Idiopathic Arthritis: Randomized Controlled Trial.
Journal of Medical Internet Research
, 24
(5)
, Article e29787. 10.2196/29787.
|
|
Mullin, J;
Wolfe, J;
Bluebond-Langner, M;
Craig, F;
(2019)
Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents.
American Journal of Medical Genetics Part A
, 179
(6)
pp. 903-907.
10.1002/ajmg.a.61149.
|
|
|
Munot, P;
McCrea, N;
Torelli, S;
Manzur, A;
Sewry, C;
Chambers, D;
Feng, L;
... Muntoni, F; + view all
(2022)
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathology and Applied Neurobiology
, 48
(2)
, Article e12771. 10.1111/nan.12771.
|
|
Munroe, PB;
Addison, S;
Abrams, DJ;
Sebire, NJ;
Cartwright, J;
Donaldson, I;
Cohen, MM;
... Thayyil, S; + view all
(2018)
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Circulation: Cardiovascular Genetics
, 11
(1)
, Article e001817. 10.1161/CIRCGEN.117.001817.
|
|
Muntoni, Francesco;
Guglieri, Michela;
Mah, Jean K;
Wagner, Kathryn R;
Brandsema, John F;
Butterfield, Russell J;
McDonald, Craig M;
... Mercuri, Eugenio; + view all
(2022)
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.
PLoS One
, 17
(8)
, Article e0272858. 10.1371/journal.pone.0272858.
|
|
Muntoni, Francesco;
Signorovitch, James;
Sajeev, Gautam;
Goemans, Nathalie;
Wong, Brenda;
Tian, Cuixia;
Mercuri, Eugenio;
... North Star Clinical Network, PRO-DMD-01 Study, The Association F; + view all
(2022)
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls.
Neuromuscular Disorders
10.1016/j.nmd.2022.02.009.
(In press).
|
|
|
Muntoni, Francesco;
Signorovitch, James;
Sajeev, Gautam;
Lane, Henry;
Jenkins, Madeline;
Dieye, Ibrahima;
Ward, Susan J;
... Aartsma-Rus, Annemieke; + view all
(2023)
DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials.
Neurology
, 100
(15)
e1540-e1554.
10.1212/WNL.0000000000201626.
|
|
Muntoni, F;
Bertini, E;
Comi, G;
Kirschner, J;
Lusakowska, A;
Mercuri, E;
Scoto, M;
... Fuerst-Recktenwald, S; + view all
(2020)
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial.
Neuromuscular Disorders
, 30
(12)
pp. 959-969.
10.1016/j.nmd.2020.10.008.
|
|
|
Muntoni, F;
Desguerre, I;
Guglieri, M;
Osorio, AN;
Kirschner, J;
Tulinius, M;
Buccella, F;
... Mercuri, E; + view all
(2019)
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.
Journal of Comparative Effectiveness Research
10.2217/cer-2019-0086.
(In press).
|
|
Muntoni, F;
Domingos, J;
Manzur, AY;
Mayhew, A;
Guglieri, M;
UK NorthStar Network, .;
Sajeev, G;
... Ward, SJ; + view all
(2019)
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.
PLoS One
, 14
(9)
, Article e0221097. 10.1371/journal.pone.0221097.
|
|
|
Murthy, AS;
Kinsler, V;
(2018)
White scarlike lesions in a female infant with bilious emesis and sixth nerve palsy.
Pediatric Dermatology
, 35
(2)
pp. 242-243.
10.1111/pde.13403.
|
|
Musleh, L;
Privitera, L;
Paraboschi, I;
Polymeropoulos, A;
Mushtaq, I;
Giuliani, S;
(2022)
Long-term active problems in patients with cloacal exstrophy: a systematic review.
Journal of Pediatric Surgery
, 57
(3)
pp. 339-347.
10.1016/j.jpedsurg.2021.08.020.
|
|
Musotto, Giulio;
Monteleone, Alessandra;
Vella, Danila;
Di Leonardo, Sofia;
Viola, Alessia;
Pitarresi, Giuseppe;
Zuccarello, Bernardo;
... Burriesci, Gaetano; + view all
(2022)
The Role of Patient-Specific Morphological Features of the Left Atrial Appendage on the Thromboembolic Risk Under Atrial Fibrillation.
Frontiers in Cardiovascular Medicine
, 9
, Article 894187. 10.3389/fcvm.2022.894187.
|
|
Musotto, Giulio;
Monteleone, Alessandra;
Vella, Danila;
Zuccarello, Bernardo;
Cannova, Ruggero;
Cook, Andrew;
Bosi, Giorgia Maria;
(2024)
Fluid-structure interaction analysis of the thromboembolic risk in the left atrial appendage under atrial fibrillation: effect of hemodynamics and morphological features.
Computer Methods and Programs in Biomedicine
, 246
, Article 108056. 10.1016/j.cmpb.2024.108056.
|
|
Muthiah, MN;
Kalitzeos, A;
Oprych, K;
Singh, N;
Georgiou, M;
Wright, GA;
Robson, AG;
... Michaelides, M; + view all
(2021)
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318034.
(In press).
|
|
|
Muthiah, S;
Polubothu, S;
Husain, A;
Oliphant, T;
Kinsler, VA;
Rajan, N;
(2020)
A mosaic variant in MAP2K1 is associated with giant naevus spilus-type congenital melanocytic naevus and melanoma development.
British Journal Of Dermatology
10.1111/bjd.19118.
(In press).
|
|
|
Myers, CE;
Houldcroft, CJ;
Roy, S;
Margetts, BK;
Best, T;
Venturini, C;
Guerra-Assuncao, JA;
... Breuer, J; + view all
(2021)
Using Whole Genome Sequences to Investigate Adenovirus Outbreaks in a Hematopoietic Stem Cell Transplant Unit.
Frontiers in Microbiology
, 12
, Article 667790. 10.3389/fmicb.2021.667790.
|
|
|
Myers, KA;
Lightfoot, P;
Patil, SG;
Cross, JH;
Scheffer, IE;
(2018)
Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study.
Developmental Medicine and Child Neurology
, 60
(6)
pp. 574-578.
10.1111/dmcn.13704.
|
|
Myers, KA;
Marini, C;
Carvill, GL;
McTague, A;
Panetta, J;
Stutterd, C;
Stanley, T;
... Scheffer, IE; + view all
(2021)
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Neurology Genetics
, 7
(2)
e579-e579.
10.1212/nxg.0000000000000579.
|
|
N
|
Nabbout, Rima;
Kuchenbuch, Mathieu;
Tinuper, Paolo;
Cross, J Helen;
Wirrell, Elaine;
(2022)
3D figure of epilepsy syndromes.
Epilepsia Open
10.1002/epi4.12665.
(In press).
|
|
Naci, H;
Salcher-Konrad, M;
Mcguire, A;
Berger, F;
Kuehne, T;
Goubergrits, L;
Muthurangu, V;
... Kelm, M; + view all
(2019)
Impact of predictive medicine on therapeutic decision making: a randomized controlled trial in congenital heart disease.
npj Digital Medicine
, 2
, Article 17. 10.1038/s41746-019-0085-1.
|
|
|
Najm, Imad;
Lal, Dennis;
Alonso Vanegas, Mario;
Cendes, Fernando;
Lopes-Cendes, Iscia;
Palmini, Andre;
Paglioli, Eliseu;
... Blümcke, Ingmar; + view all
(2022)
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.
Epilepsia
10.1111/epi.17301.
(In press).
|
|
Nakata, K;
Williams, R;
Kinoshita, Y;
Koshinaga, T;
Moroz, V;
Al-Saadi, R;
Vujanic, G;
... Pritchard-Jones, K; + view all
(2021)
Comparative analysis of the clinical characteristics and outcomes of patients with Wilms tumor in the United Kingdom and Japan.
Pediatric Blood & Cancer
, Article e29143. 10.1002/pbc.29143.
(In press).
|
|
|
Nanthapisal, S;
Eleftheriou, D;
Gilmour, K;
Leone, V;
Ramnath, R;
Omoyinmi, E;
Hong, Y;
... Brogan, PA; + view all
(2018)
Cutaneous vasculitis and recurrent infection caused by deficiency in complement factor I.
Frontiers in Immunology
, 9
, Article 735. 10.3389/fimmu.2018.00735.
|
|
|
Natera-de Benito, Daniel;
Jurgens, Julie A;
Yeung, Alison;
Zaharieva, Irina T;
Manzur, Adnan;
DiTroia, Stephanie P;
Di Gioia, Silvio Alessandro;
... Muntoni, Francesco; + view all
(2022)
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Human Mutation
, 43
(4)
pp. 487-498.
10.1002/humu.24333.
|
|
Neary-Zajiczek, L;
Essmann, C;
Rau, A;
Bano, S;
Clancy, N;
Jansen, M;
Heptinstall, L;
... Stoyanov, D; + view all
(2021)
Stain-free identification of tissue pathology using a generative adversarial network to infer nanomechanical signatures.
Nanoscale Advances
, 3
(22)
pp. 6403-6414.
10.1039/d1na00527h.
|
|
Neesgaard, B;
Mocroft, A;
Zangerle, R;
Wit, F;
Lampe, F;
Günthard, HF;
Necsoi, C;
... RESPOND study group; + view all
(2020)
Virologic and immunologic outcomes of treatment with integrase inhibitors in a real-world setting: The RESPOND cohort consortium.
PLoS One
, 15
(12)
, Article e0243625. 10.1371/journal.pone.0243625.
|
|
|
Negretti, Guy S;
Quhill, Hibba;
Duncan, Catriona;
Chowdhury, Tanzina;
Stoker, Ian;
Reddy, M Ashwin;
Sagoo, Mandeep S;
(2022)
Ruthenium plaque radiotherapy in the current era of retinoblastoma treatment.
Ophthalmic Genetics
, 43
(6)
pp. 756-761.
10.1080/13816810.2022.2141795.
|
|
Nemani, T;
Steel, D;
Kaliakatsos, M;
DeVile, C;
Ververi, A;
Scott, R;
Getov, S;
... Munot, P; + view all
(2020)
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Journal of the Peripheral Nervous System
, 25
(2)
pp. 117-124.
10.1111/jns.12368.
|
|
Nery, F;
De Vita, E;
Clark, CA;
Gordon, I;
Thomas, DL;
(2018)
Robust kidney perfusion mapping in pediatric chronic kidney disease using single-shot 3D-GRASE ASL with optimized retrospective motion correction.
Magnetic Resonance in Medicine
10.1002/mrm.27614.
(In press).
|
|
|
Nethisinghe, S;
Kesavan, M;
Ging, H;
Labrum, R;
Polke, JM;
Islam, S;
Garcia-Moreno, H;
... Giunti, P; + view all
(2021)
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
International Journal of Molecular Sciences
, 22
(14)
, Article 7507. 10.3390/ijms22147507.
|
|
|
Nethisinghe, S;
Lim, WN;
Ging, H;
Zeitlberger, A;
Abeti, R;
Pemble, S;
Sweeney, MG;
... Giunti, P; + view all
(2018)
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Frontiers in Cellular Neuroscience
, 12
, Article 429. 10.3389/fncel.2018.00429.
|
|
|
Ng, Joanne;
Barral, Serena;
Waddington, Simon N;
Kurian, Manju A;
(2023)
Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.
Cells
, 12
(13)
, Article 1737. 10.3390/cells12131737.
|
|
Ng, Joanne;
Barral, Serena;
Waddington, Simon N;
Kurian, Manju A;
(2023)
Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Movement Disorders
10.1002/mds.29416.
(In press).
|
|
|
Ng, J;
Barral, S;
Barrigon, CDLF;
Lignani, G;
Erdem, FA;
Wallings, R;
Privolizzi, R;
... Kurian, MA; + view all
(2021)
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Science Translational Medicine
, 13
(594)
, Article eaaw1564. 10.1126/scitranslmed.aaw1564.
|
|
|
Ng, J;
Cortès-Saladelafont, E;
Abela, L;
Termsarasab, P;
Mankad, K;
Sudhakar, S;
Gorman, KM;
... Kurian, MA; + view all
(2020)
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia.
Movement Disorders
10.1002/mds.28063.
(In press).
|
|
|
Ng, KW;
Faulkner, N;
Cornish, GH;
Rosa, A;
Harvey, R;
Hussain, S;
Ulferts, R;
... Kassiotis, G; + view all
(2020)
Preexisting and de novo humoral immunity to SARS-CoV-2 in humans.
Science
, Article eabe1107. 10.1126/science.abe1107.
(In press).
|
|
|
Ngwenya, N;
Kenten, C;
Jones, L;
Gibson, F;
Pearce, S;
Flatley, M;
Hough, R;
... Whelan, J; + view all
(2017)
Experiences and Preferences for End-of-Life Care for Young Adults with Cancer and Their Informal Carers: A Narrative Synthesis.
Journal of Adolescent and Young Adult Oncology
, 6
(2)
pp. 200-212.
10.1089/jayao.2016.0055.
|
|
|
Nicholson, Bethany;
Goodman, Rupert;
Day, James;
Worth, Austen;
Carpenter, Ben;
Sandford, Kit;
Morris, Emma C;
... Campbell, Mari; + view all
(2022)
Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity.
Journal of Clinical Immunology
10.1007/s10875-022-01286-6.
(In press).
|
|
Niemi, MEK;
Karjalainen, J;
Liao, RG;
Neale, BM;
Daly, M;
Ganna, A;
Pathak, GA;
... Donohue, C; + view all
(2021)
Mapping the human genetic architecture of COVID-19.
Nature
, 600
pp. 472-477.
10.1038/s41586-021-03767-x.
|
|
|
Nightingale, Ruth;
McHugh, Gretl A;
Swallow, Veronica;
Kirk, Sue;
(2022)
Shifting responsibilities: A qualitative study of how young people assume responsibility from their parents for self-management of their chronic kidney disease.
Health Expectations
, 25
, Article 4.
|
|
Nissenbaum, C;
Davies, G;
Horsley, A;
Davies, JC;
(2020)
Monitoring early stage lung disease in cystic fibrosis.
Current Opinion in Pulmonary Medicine
, 26
(6)
pp. 671-678.
10.1097/MCP.0000000000000732.
|
|
Noimark, SM;
Colchester, RJ;
Poduval, RK;
Maneas, E;
Alles, EJ;
Zhao, T;
Zhang, EZ;
... Desjardins, AE; + view all
(2018)
Polydimethylsiloxane (PDMS) composites for optical ultrasound generation and multi-modality imaging.
Advanced Functional Materials
, 28
(9)
, Article 1704919. 10.1002/adfm.201704919.
|
|
Norrish, G;
Cleary, A;
Field, E;
Cervi, E;
Boleti, O;
Ziółkowska, L;
Olivotto, I;
... Kaski, JP; + view all
(2022)
Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.
Journal of the American College of Cardiology
, 79
(20)
pp. 1986-1997.
10.1016/j.jacc.2022.03.347.
|
|
Norrish, G;
Qu, C;
Field, E;
Cervi, E;
Khraiche, D;
Klaassen, S;
Ojala, TH;
... Kaski, JP; + view all
(2021)
External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.
European Journal of Preventive Cardiology
10.1093/eurjpc/zwab181.
(In press).
|
|
|
Norrish, Gabrielle;
Protonotarios, Alexandros;
Stec, Maria;
Boleti, Olga;
Field, Ella;
Cervi, Elena;
Elliott, Perry M;
(2023)
Performance of the PRIMaCY sudden death risk prediction model for childhood hypertrophic cardiomyopathy: implications for implantable cardioverter-defibrillator decision-making.
EP Europace
, 25
(11)
, Article euad330. 10.1093/europace/euad330.
|
|
Norrish, G;
Ding, T;
Field, E;
McLeod, K;
Ilina, M;
Stuart, G;
Bhole, V;
... Kaski, JP; + view all
(2019)
A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy.
EP Europace
10.1093/europace/euz118.
(In press).
|
|
|
Norrish, G;
Ding, T;
Field, E;
Ziólkowska, L;
Olivotto, I;
Limongelli, G;
Anastasakis, A;
... Kaski, JP; + view all
(2019)
Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids).
JAMA Cardiology
, 4
(9)
pp. 918-927.
10.1001/jamacardio.2019.2861.
|
|
Norrish, G;
Elliott, PM;
(2018)
Cardiomyopathies in children: Mitochondrial and storage disease.
Progress in Pediatric Cardiology
, 51
pp. 16-23.
10.1016/j.ppedcard.2018.08.009.
|
|
Norrish, G;
Field, E;
Mcleod, K;
Ilina, M;
Stuart, G;
Bhole, V;
Uzun, O;
... Kaski, JP; + view all
(2018)
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom.
European Heart Journal
10.1093/eurheartj/ehy798.
(In press).
|
 |
|
Norrish, G;
Forshaw, N;
Woo, C;
Avanis, MC;
Field, E;
Cervi, E;
Iguchi, A;
(2018)
Outcomes following general anaesthesia in children with hypertrophic cardiomyopathy.
Archives of Disease in Childhood
10.1136/archdischild-2018-315366.
|
|
|
Norrish, G;
Jager, J;
Field, E;
Quinn, E;
Fell, H;
Lord, E;
Cicerchia, MN;
... Kaski, JP; + view all
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.
Circulation
10.1161/CIRCULATIONAHA.118.038846.
(In press).
|
|
|
Norrish, G;
Topriceanu, C;
Qu, C;
Field, E;
Walsh, H;
Ziółkowska, L;
Olivotto, I;
... Kaski, JP; + view all
(2021)
The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy.
European Journal of Preventive Cardiolog
10.1093/eurjpc/zwab046.
(In press).
|
|
|
Northam, GB;
Adler, S;
Eschmann, KCJ;
Chong, WK;
Cowan, FM;
Baldeweg, T;
(2018)
Developmental conduction aphasia after neonatal stroke.
Annals of Neurology
, 83
(4)
pp. 664-675.
10.1002/ana.25218.
|
|
Northam, GB;
Morgan, AT;
Fitzsimmons, S;
Baldeweg, T;
Liegeois, F;
(2019)
Corticobulbar Tract Injury, Oromotor Impairment and Language Plasticity in Adolescents Born Preterm.
Frontiers in Human Neuroscience
, 13
, Article 45. 10.3389/fnhum.2019.00045.
|
|
|
Nosadini, M;
Thomas, T;
Eyre, M;
Anlar, B;
Armangue, T;
Benseler, SM;
Cellucci, T;
... Dale, RC; + view all
(2021)
International Consensus Recommendations for the Treatment of Pediatric NMDAR Antibody Encephalitis.
Neurol Neuroimmunol Neuroinflamm
, 8
(5)
10.1212/NXI.0000000000001052.
|
|
|
Novak, J;
Zarinabad, N;
Rose, H;
Arvanitis, T;
MacPherson, L;
Pinkey, B;
Oates, A;
... Peet, A; + view all
(2021)
Classification of paediatric brain tumours by diffusion weighted imaging and machine learning.
Scientific Reports
, 11
, Article 2987. 10.1038/s41598-021-82214-3.
|
|
|
Novo Matos, J;
Garcia-Canadilla, P;
Simcock, IC;
Hutchinson, JC;
Dobromylskyj, M;
Guy, A;
Arthurs, OJ;
... Luis Fuentes, V; + view all
(2020)
Micro-computed tomography (micro-CT) for the assessment of myocardial disarray, fibrosis and ventricular mass in a feline model of hypertrophic cardiomyopathy.
Scientific Reports
, 10
, Article 20169. 10.1038/s41598-020-76809-5.
|
|
|
Nowak, Franciszek;
Yung, Ka-Wai;
Sivaraj, Jayaram;
De Coppi, Paolo;
Stoyanov, Danail;
Loukogeorgakis, Stavros;
Mazomenos, Evangelos B;
(2024)
An investigation into augmentation and preprocessing for optimising X-ray classification in limited datasets: a case study on necrotising enterocolitis.
International Journal of Computer Assisted Radiology and Surgery
10.1007/s11548-024-03107-0.
(In press).
|
|
O
|
O' Sullivan, E;
van de Lande, LS;
El Ghoul, K;
Koudstaal, MJ;
Schievano, S;
Khonsari, RH;
Dunaway, DJ;
(2022)
Growth patterns and shape development of the paediatric mandible – A 3D statistical model.
Bone Reports
, 16
, Article 101528. 10.1016/j.bonr.2022.101528.
|
|
O'Callaghan, C;
Rutman, A;
Williams, G;
Kulkarni, N;
Hayes, J;
Hirst, RA;
(2018)
Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia.
Respiratory Research
, 19
, Article 125. 10.1186/s12931-018-0782-3.
|
|
|
O'Connor, David;
Espejo Valle-Inclán, Jose;
Conde, Lucia;
Bloye, Gianna;
Rahman, Sunniyat;
Costa, Joana R;
Bartram, Jack;
... Mansour, Marc R; + view all
(2024)
Non-coding mutations drive persistence of a founder pre-leukemic clone which initiates late relapse in T-ALL.
Blood
, 143
(10)
pp. 933-937.
10.1182/blood.2023021906.
|
|
O'Connor, David;
Joy, Melvin;
Enshaei, Amir;
Kirkwood, Amy A;
Kearns, Pamela R;
Samarasinghe, Sujith;
Moppett, John P;
... Vora, Ajay; + view all
(2023)
Cranial radiotherapy has minimal benefit in children with central nervous system involvement in T-ALL.
Blood Advances
, 7
(23)
7231-7234..
10.1182/bloodadvances.2023011267.
|
|
O'Connor, Graeme;
Edel, Lisa;
Raquq, Sarah;
Bowerman, Melissa;
Szmurlo, Agnieszka;
Simpson, Zoe;
Hardy, Isobel;
... Baranello, Giovanni; + view all
(2023)
Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study.
Nutrition in Clinical Practice
, 38
(4)
pp. 871-880.
10.1002/ncp.10940.
|
|
O'Connor, E;
Vandrovcova, J;
Bugiardini, E;
Chelban, V;
Manole, A;
Davagnanam, I;
Wiethoff, S;
... Wood, NW; + view all
(2018)
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2017-317581.
|
|
|
O'Reilly, H;
Eltze, C;
Bennett, K;
Verhaert, K;
Webb, R;
Merrett, A;
Scott, RC;
... de Haan, M; + view all
(2018)
Cognitive outcomes following epilepsy in infancy: A longitudinal community-based study.
Epilepsia
, 59
(12)
pp. 2240-2248.
10.1111/epi.14589.
|
|
O'Reilly, MA;
Govender, D;
Kirkwood, AA;
Vora, A;
Samarasinghe, S;
Khwaja, A;
Grandage, V;
... O'Connor, D; + view all
(2019)
The incidence of invasive fungal infections in children, adolescents and young adults with acute lymphoblastic leukaemia/lymphoma treated with the UKALL2011 protocol: a multicentre retrospective study.
[Letter].
British Journal of Haematology
, 186
(2)
pp. 327-329.
10.1111/bjh.15798.
|
|
Ohl, K;
Nickel, H;
Moncrieffe, H;
Klemm, P;
Scheufen, A;
Foell, D;
Wixler, V;
... Tenbrock, K; + view all
(2018)
The transcription factor CREM drives an inflammatory phenotype of T cells in oligoarticular juvenile idiopathic arthritis.
Pediatric Rheumatology
, 16
, Article 39. 10.1186/s12969-018-0253-x.
|
|
|
Oldroyd, Alexander GS;
Lilleker, James B;
Amin, Tania;
Aragon, Octavio;
Bechman, Katie;
Cuthbert, Verna;
Galloway, James;
... British Society for Rheumatology Standards, Audit and Guidelines, .; + view all
(2022)
British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy.
Rheumatology
, 61
(5)
pp. 1760-1768.
10.1093/rheumatology/keac115.
|
|
Oliver, TRW;
Jackson, TJ;
Ogunbiyi, O;
Sebire, N;
Slater, O;
Jorgensen, M;
Behjati, S;
(2020)
Comment on: "Tumour-agnostic drugs in paediatric cancers", Chisholm et al., BJC 2020.
British Journal of Cancer
10.1038/s41416-020-01103-0.
|
|
|
Ollé Hurtado, M;
Wolbert, J;
Fisher, J;
Flutter, B;
Stafford, S;
Barton, J;
Jain, N;
... Anderson, J; + view all
(2019)
Tumor infiltrating lymphocytes expanded from pediatric neuroblastoma display heterogeneity of phenotype and function.
PLoS One
, 14
(8)
, Article e0216373. 10.1371/journal.pone.0216373.
|
|
|
Omairi, S;
Hau, K-L;
Collins-Hooper, H;
Scott, C;
Vaiyapuri, S;
Torelli, S;
Montanaro, F;
... Patel, K; + view all
(2019)
Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres.
Scientific Reports
, 9
, Article 2770. 10.1038/s41598-019-39532-4.
|
|
|
Omoyinmi, E;
Mohamoud, I;
Gilmour, K;
Brogan, PA;
Eleftheriou, D;
(2018)
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3.
Frontiers in Immunology
, 9
, Article 2524. 10.3389/fimmu.2018.02524.
|
|
|
Omrani, O;
O'Connor, J;
Hartley, J;
James, G;
(2018)
Effect of introduction of a standardised peri-operative protocol on CSF shunt infection rate: a single-centre cohort study of 809 procedures.
Child's Nervous System
, 34
(12)
pp. 2407-2414.
10.1007/s00381-018-3953-0.
|
|
|
Oostendorp, LJM;
Rajapakse, D;
Kelly, P;
Crocker, J;
Dinsdale, A;
Fraser, L;
Bluebond-Langner, M;
(2018)
Documentation of breakthrough pain in narrative clinical records of children with life-limiting conditions: Feasibility of a retrospective review.
Journal of Child Health Care
10.1177/1367493518807312.
(In press).
|
|
|
Opladen, T;
López-Laso, E;
Cortès-Saladelafont, E;
Pearson, TS;
Sivri, HS;
Yildiz, Y;
Assmann, B;
... International Working Group on Neurotransmitter related Disorder, .; + view all
(2020)
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH₄) deficiencies.
Orphanet Journal of Rare Diseases
, 15
(1)
, Article 126. 10.1186/s13023-020-01379-8.
|
|
|
Oporto Espuelas, Macarena;
Burridge, Saskia;
Kirkwood, Amy A;
Bonney, Denise;
Watts, Kelly;
Shenton, Geoff;
Jalowiec, Katarzyna A;
... Ghorashian, Sara; + view all
(2024)
Intention-to-treat outcomes utilising a stringent event definition in children and young people treated with tisagenlecleucel for r/r ALL through a national access scheme.
Blood Cancer Journal
, 14
(1)
, Article 66. 10.1038/s41408-024-01038-2.
|
|
Orf, K;
Rogosic, S;
Dexter, D;
Ancliff, P;
Badle, S;
Brierley, J;
Cheng, D;
... Bartram, J; + view all
(2020)
Remdesivir during induction chemotherapy for newly diagnosed paediatric acute lymphoblastic leukaemia with concomitant SARS-CoV-2 infection.
British Journal of Haematology
, 190
(5)
E274-E276.
10.1111/bjh.17014.
|
|
Orzechowska, I;
Sadique, MZ;
Thomas, K;
Davis, P;
Morris, KP;
Mouncey, PR;
Peters, MJ;
... Harrison, DA; + view all
(2020)
First-line support for assistance in breathing in children: statistical and health economic analysis plan for the FIRST-ABC trial.
Trials
, 21
, Article 903. 10.1186/s13063-020-04818-w.
|
|
|
Oskoui, Maryam;
Day, John W;
Deconinck, Nicolas;
Mazzone, Elena S;
Nascimento, Andres;
Saito, Kayoko;
Vuillerot, Carole;
... SUNFISH Working Group; + view all
(2023)
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Journal of Neurology
10.1007/s00415-023-11560-1.
(In press).
|
|
Ostrozovicova, Miriama;
Jech, Robert;
Steel, Dora;
Pavelekova, Petra;
Han, Vladimir;
Gdovinova, Zuzana;
Lichtner, Peter;
... Skorvanek, Matej; + view all
(2021)
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Movement Disorders
, 36
(8)
, Article 28647. 10.1002/mds.28647.
|
|
Ottaviano, G;
Achini-Gutzwiller, F;
Kalwak, K;
Lanino, E;
Faraci, M;
Rao, K;
Chiesa, R;
... Lucchini, G; + view all
(2021)
Impact of in Vivo Lymphodepletion on Outcome in Children with Nonmalignant Disorders Receiving Peripheral Blood Stem Cell Transplantation.
Transplantation and Cellular Therapy
, 27
(12)
1020.e1-1020.e5.
10.1016/j.jtct.2021.08.015.
|
|
Ottaviano, G;
Baird, S;
Bonney, D;
Connor, P;
Cummins, M;
Evans, P;
Gibson, B;
... Vora, A; + view all
(2021)
The role of immunotherapy in relapse/refractory precursor-B acute lymphoblastic leukaemia: real-life UK/Ireland experience in children and young adults.
British Journal of Haematology
, 192
(2)
e42-e44.
10.1111/bjh.17198.
|
|
Ottaviano, G;
Chiesa, R;
Feuchtinger, T;
Vickers, MA;
Dickinson, A;
Gennery, AR;
Veys, P;
(2019)
Adoptive T Cell Therapy Strategies for Viral Infections in Patients Receiving Haematopoietic Stem Cell Transplantation.
Cells
, 8
(1)
, Article 47. 10.3390/cells8010047.
|
|
|
Ottaviano, G;
Lucchini, G;
Breuer, J;
Furtado-Silva, JM;
Lazareva, A;
Ciocarlie, O;
Elfeky, R;
... Chiesa, R; + view all
(2020)
Delaying haematopoietic stem cell transplantation in children with viral respiratory infections reduces transplant-related mortality.
British Journal of Haematology
, 188
(4)
pp. 560-569.
10.1111/bjh.16216.
|
|
Oulton, Kate;
Gibson, Faith;
Kenten, Charlotte;
Russell, Jessica;
Carr, Lucinda;
Hassiotis, Angela;
Kelly, Paula;
... Wray, Jo; + view all
(2023)
Being a child with intellectual disabilities in hospital: The need for an individualised approach to care.
Journal of Applied Research in Intellectual Disabilities
10.1111/jar.13153.
(In press).
|
|
|
Oulton, K;
Gibson, F;
Carr, L;
Hassiotis, A;
Jewitt, C;
Kenten, C;
Russell, J;
... Wray, J; + view all
(2018)
Mapping staff perspectives towards the delivery of hospital care for children and young people with and without learning disabilities in England: a mixed methods national study.
BMC Health Services Research
, 18
, Article 203. 10.1186/s12913-018-2970-8.
|
|
|
Oulton, K;
Wray, J;
Hassiotis, A;
Kenten, C;
Russell, J;
Tuffrey-Wijne, I;
Whiting, M;
(2019)
Learning disability nurse provision in children's hospitals: hospital staff perceptions of whether it makes a difference.
BMC Pediatrics
, 19
, Article 192. 10.1186/s12887-019-1547-y.
|
|
|
Owen, E;
Williams, JE;
Davies, G;
Wallis, C;
Grant, RL;
Fewtrell, MS;
(2021)
Growth, Body Composition, and Lung Function in Prepubertal Children with Cystic Fibrosis Diagnosed by Newborn Screening.
Nutrition in Clinical Practice
, 36
(6)
pp. 1240-1246.
10.1002/ncp.10604.
|
|
Owen, N;
Toms, M;
Young, RM;
Eintracht, J;
Sarkar, H;
Brooks, BP;
Moosajee, M;
... Zarowiecki, M; + view all
(2022)
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
Genetics in Medicine
10.1016/j.gim.2021.12.014.
(In press).
|
|
|
Owen, Nicholas;
Toms, Maria;
Tian, Yuan;
Toualbi, Lyes;
Richardson, Rose;
Young, Rodrigo;
Tracey-White, Dhani;
... Moosajee, Mariya; + view all
(2023)
Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.
The Journal of Pathology
, 259
pp. 441-454.
10.1002/path.6056.
|
|
Owen, J;
Beck, J;
Campbell, T;
Adamson, G;
Gorham, M;
Thompson, A;
Smithson, S;
... Mead, S; + view all
(2014)
Predictive testing for inherited prion disease: report of 22 years experience.
European Journal of Human Genetics
, 22
(12)
pp. 1351-1356.
10.1038/ejhg.2014.42.
|
|
Owen, N;
Moosajee, M;
(2019)
RNA-sequencing in ophthalmology research: considerations for experimental design and analysis.
Therapeutic Advances in Ophthalmology
, 11
pp. 1-23.
10.1177/2515841419835460.
|
|
Ozen, S;
Marks, SD;
Brogan, P;
Groot, N;
De Graeff, N;
Avcin, T;
Bader-Meunier, B;
... Beresford, MW; + view all
(2019)
European consensus-based recommendations for diagnosis and treatment of immunoglobulin A vasculitis—the SHARE initiative.
Rheumatology
, 58
(9)
pp. 1607-1616.
10.1093/rheumatology/kez041.
|
P
|
Pagel, Christina;
Wilde, Harrison;
Tomlinson, Christopher;
Mateen, Bilal;
Brown, Katherine;
(2023)
A Methodological Framework for Assessing the Benefit of SARS-CoV-2 Vaccination following Previous Infection: Case Study of Five- to Eleven-Year-Olds.
Vaccines
, 11
(5)
, Article 988. 10.3390/vaccines11050988.
|
|
|
Pagnamenta, AT;
Kaiyrzhanov, R;
Zou, Y;
Da'as, SI;
Maroofian, R;
Donkervoort, S;
Dominik, N;
... Houlden, H; + view all
(2021)
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
10.1093/brain/awaa420.
(In press).
|
|
|
Pai, Aswin Anand;
Mohanan, Ezhilpavai;
Panetta, John C;
Kulkarni, Uday P;
Stallon Illangeswaran, RS;
Balakrishnan, Balaji;
Jayaraman, Agila;
... Balasubramanian, Poonkuzhali; + view all
(2024)
Treosulfan Exposure Predicts Thalassemia-Free Survival in Patients with Beta Thalassemia Major Undergoing Allogeneic Hematopoietic Cell Transplantation.
Clinical Pharmacology & Therapeutics
, 115
(1)
pp. 116-125.
10.1002/cpt.3078.
|
|
Pai, S-Y;
Thrasher, AJ;
(2020)
Gene therapy for X-linked severe combined immunodeficiency: historical outcomes and current status.
Journal of Allergy and Clinical Immunology
, 146
(2)
pp. 258-261.
10.1016/j.jaci.2020.05.055.
|
|
Pain, CE;
Beresford, MW;
Fortune, F;
Lai, ETC;
Murphy, R;
Taylor-Robinson, D;
Brogan, PA;
(2021)
Behçet's syndrome in children and young people in the United Kingdom & Republic of Ireland: a prospective epidemiological study.
Rheumatology
, 60
(10)
pp. 4728-4736.
10.1093/rheumatology/keab084.
|
|
Pairo-Castineira, E;
Clohisey, S;
Klaric, L;
Bretherick, AD;
Rawlik, K;
Pasko, D;
Walker, S;
... Baillie, JK; + view all
(2021)
Genetic mechanisms of critical illness in COVID-19.
Nature
, 591
pp. 92-98.
10.1038/s41586-020-03065-y.
|
|
Pajaziti, Endrit;
Montalt-Tordera, Javier;
Capelli, Claudio;
Sivera, Raphaël;
Sauvage, Emilie;
Quail, Michael;
Schievano, Silvia;
(2023)
Shape-driven deep neural networks for fast acquisition of aortic 3D pressure and velocity flow fields.
PLoS Computational Biology
, 19
(4)
, Article e1011055. 10.1371/journal.pcbi.1011055.
(In press).
|
|
Pajno, R;
Pacillo, L;
Recupero, S;
Cicalese, MP;
Ferrua, F;
Barzaghi, F;
Ricci, S;
... Aiuti, A; + view all
(2020)
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Journal of Clinical Immunology
, 40
pp. 610-618.
10.1007/s10875-020-00777-8.
|
|
|
Palikuqi, B;
Duc-Huy, TN;
Li, G;
Schreiner, R;
Pellegata, AF;
Liu, Y;
Redmond, D;
... Rafii, S; + view all
(2020)
Adaptable haemodynamic endothelial cells for organogenesis and tumorigenesis.
Nature
, 585
(7825)
pp. 426-432.
10.1038/s41586-020-2712-z.
|
|
Pallini, G;
Tsochatzis, EA;
(2021)
NAFLD: Diagnostic Algorithms for Regulating Patient Fluxes.
Current Pharmaceutical Design
, 27
(27)
10.2174/1381612827666210127120748.
|
|
Pan, S;
Yu, H;
Surti, A;
Cheng, I;
Marks, SD;
Brogan, PA;
Eleftheriou, D;
(2019)
Pharmacodynamics of rituximab on B lymphocytes in paediatric patients with autoimmune diseases.
British Journal of Clinical Pharmacology
, 85
(8)
pp. 1790-1797.
10.1111/bcp.13970.
|
|
|
Panca, M;
Christie, D;
Cole, TJ;
Costa, S;
Gregson, J;
Holt, R;
Hudson, LD;
... Morris, S; + view all
(2018)
Cost-effectiveness of a community-delivered multicomponent intervention compared with enhanced standard care of obese adolescents: cost-utility analysis alongside a randomised controlled trial (the HELP trial).
BMJ Open
, 8
(2)
, Article e018640. 10.1136/bmjopen-2017-018640.
|
|
|
Panchal, Neelam;
Houghton, Benjamin Christopher;
Vassalou, Elina;
Thrasher, Adrian J;
Booth, Claire;
(2022)
Allosteric Inhibition of SHP2 rescues functional T-cell abnormalities in SAP deficiency.
Journal of Allergy and Clinical Immunology
, 150
(6)
1507-1516.e7.
10.1016/j.jaci.2022.06.021.
|
|
Panchal, N;
Booth, C;
Cannons, JL;
Schwartzberg, PL;
(2018)
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.
Frontiers in Immunology
, 9
, Article 666. 10.3389/fimmu.2018.00666.
|
|
|
Panchal, N;
Houghton, B;
Diez, B;
Ghosh, S;
Ricciardelli, I;
Thrasher, AJ;
Gaspar, HB;
(2018)
Transfer of gene corrected T cells corrects humoral and cytotoxic defects in X-linked lymphoproliferative disease (XLP1).
Journal of Allergy and Clinical Immunology
, 142
(1)
235-245.e6.
10.1016/j.jaci.2018.02.053.
|
|
|
Paolilo, RB;
Hacohen, Y;
Yazbeck, E;
Armangue, T;
Bruijstens, A;
Lechner, C;
Apostolos-Pereira, SL;
... Deiva, K; + view all
(2020)
Treatment and outcome of aquaporin-4 antibody-positive NMOSD: A multinational pediatric study.
Neurology: Neuroimmunology & NeuroInflammation
, 7
(5)
pp. 1-12.
10.1212/NXI.0000000000000837.
|
|
|
Papadopoulou, Charalampia;
Chew, Christine;
Wilkinson, Meredyth G Ll;
McCann, Liza;
Wedderburn, Lucy R;
(2023)
Juvenile idiopathic inflammatory myositis: an update on pathophysiology and clinical care.
Nature Reviews Rheumatology
, 19
pp. 343-362.
10.1038/s41584-023-00967-9.
|
|
Papadopoulou, C;
Al Obaidi, M;
Moraitis, E;
Compeyrot-Lacassagne, S;
Eleftheriou, D;
Brogan, P;
(2020)
Management of severe hyperinflammation in the COVID-19 era: the role of the rheumatologist.
Rheumatology
10.1093/rheumatology/keaa652.
(In press).
|
|
|
Papadopoulou, C;
Hong, Y;
Krol, P;
Al Obaidi, M;
Pilkington, C;
Wedderburn, LR;
Brogan, PA;
(2021)
The Vasculopathy of Juvenile Dermatomyositis: endothelial injury, hypercoagulability, and increased arterial stiffness.
Arthritis Rheumatology
10.1002/art.41639.
(In press).
|
|
|
Papadopoulou, C;
Omoyinmi, E;
Standing, A;
Pain, CE;
Booth, C;
D'Arco, F;
Gilmour, K;
... Brogan, PA; + view all
(2019)
Monogenic mimics of Behçet's disease in the young.
Rheumatology
, 58
(7)
pp. 1227-1238.
10.1093/rheumatology/key445.
|
|
Papandreou, A;
Danti, FR;
Spaull, R;
Leuzzi, V;
Mctague, A;
Kurian, MA;
(2020)
The expanding spectrum of movement disorders in genetic epilepsies.
Developmental Medicine & Child Neurology
, 62
(2)
pp. 178-191.
10.1111/dmcn.14407.
|
|
Papandreou, A;
Rahman, S;
Fratter, C;
Ng, J;
Meyer, E;
Carr, LJ;
Champion, M;
... Kurian, MA; + view all
(2018)
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Journal of Inherited Metabolic Disease
, 41
(6)
pp. 1275-1283.
10.1007/s10545-018-0227-7.
|
|
|
Papapietro, O;
Chandra, A;
Eletto, D;
Inglott, S;
Plagnol, V;
Curtis, J;
Maes, M;
... Nejentsev, S; + view all
(2020)
Topoisomerase 2β mutation impairs early B-cell development.
Blood
, 135
(17)
pp. 1497-1501.
10.1182/blood.2019003299.
|
|
Paraboschi, Irene;
Privitera, Laura;
Loukogeorgakis, Stavros;
Giuliani, Stefano;
(2022)
Indocyanine Green-Based Fluorescence-Guided Surgery in a Male Infant with Anorectal Malformation.
European Journal of Pediatric Surgery Reports
, 10
(1)
e122-e125.
10.1055/s-0042-1750029.
|
|
Paraboschi, I;
De Coppi, P;
Stoyanov, D;
Anderson, J;
Giuliani, S;
(2021)
Fluorescence imaging in pediatric surgery: State-of-the-art and future perspectives.
Journal of Pediatric Surgery
, 56
(4)
pp. 655-662.
10.1016/j.jpedsurg.2020.08.004.
|
|
Paraboschi, I;
Turnock, S;
Kramer-Marek, G;
Musleh, L;
Barisa, M;
Anderson, J;
Giuliani, S;
(2021)
Near-infrared photoimmunoTherapy (NIR-PIT) for the local control of solid cancers: challenges and potentials for human applications.
Critical Reviews in Oncology Hematology
p. 103325.
10.1016/j.critrevonc.2021.103325.
|
|
|
Parida, A;
Abdel-Mannan, O;
Mankad, K;
Foster, K;
Ramdas, S;
Ram, D;
Eleftheriou, D;
... Wassmer, E; + view all
(2021)
Isolated central nervous system familial hemophagocytic lymphohistiocytosis (fHLH) presenting as a mimic of demyelination in children.
Multiple Sclerosis Journal
10.1177/13524585211053565.
(In press).
|
|
Parikh, S;
Karaa, A;
Goldstein, A;
Bertini, ES;
Chinnery, PF;
Christodoulou, J;
Cohen, BH;
... Rahman, S; + view all
(2019)
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Journal of Medical Genetics
, 56
(3)
pp. 123-130.
10.1136/jmedgenet-2018-105800.
|
|
|
Park, Joohyun;
Tucci, Arianna;
Cipriani, Valentina;
Demidov, German;
Rocca, Clarissa;
Senderek, Jan;
Butryn, Michaela;
... Hengel, Holger; + view all
(2022)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genetics in Medicine
, 24
(10)
pp. 2079-2090.
10.1016/j.gim.2022.07.006.
|
|
Passarelli, C;
Selvatici, R;
Carrieri, A;
Di Raimo, FR;
Falzarano, MS;
Fortunato, F;
Rossi, R;
... Ferlini, A; + view all
(2020)
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Frontiers in Genetics
, 11
, Article 605. 10.3389/fgene.2020.00605.
|
|
|
Patel, A;
Anderson, G;
Galea, G;
Balys, M;
Sowden, JC;
(2020)
A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma.
Development
, 147
(24)
, Article dev193649. 10.1242/dev.193649.
|
|
Patel, A;
Hayward, JD;
Tailor, V;
Nyanhete, R;
Ahlfors, H;
Gabriel, C;
Jannini, TB;
... Sowden, JC; + view all
(2019)
The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Ophthalmology
, 126
(6)
pp. 888-907.
10.1016/j.ophtha.2018.12.050.
|
|
Patel, DE;
Cumberland, PM;
Walters, BC;
Abbott, J;
Brookes, J;
Edmunds, B;
Khaw, PT;
... OPTIC Study Group; + view all
(2021)
Study of Optimal Perimetric Testing In Children (OPTIC): developing consensus and setting research priorities for perimetry in the management of children with glaucoma.
Eye
10.1038/s41433-021-01584-0.
(In press).
|
|
|
Patel, DE;
Cumberland, PM;
Walters, BC;
Cortina-Borja, M;
Rahi, JS;
OPTIC study group;
(2019)
Study of Optimal Perimetric Testing in Children (OPTIC): evaluation of kinetic approaches in childhood neuro-ophthalmic disease.
British Journal of Ophthalmology
, 103
(8)
pp. 1085-1091.
10.1136/bjophthalmol-2018-312591.
|
|
|
Patel, DE;
Cumberland, PM;
Walters, BC;
Russell-Eggitt, I;
Brookes, J;
Papadopoulos, M;
Khaw, PT;
... Optimal Perimetric Testing in Children (OPTIC) study group, .; + view all
(2018)
Comparison of Quality and Output of Different Optimal Perimetric Testing Approaches in Children With Glaucoma.
JAMA Ophthalmology
, 136
(2)
pp. 155-161.
10.1001/jamaophthalmol.2017.5898.
|
|
Patel, JA;
Shen, L;
Hall, SM;
Benyahia, C;
Norel, X;
McAnulty, RJ;
Moledina, S;
... Clapp, LH; + view all
(2018)
Prostanoid EP₂ Receptors Are Up-Regulated in Human Pulmonary Arterial Hypertension: A Key Anti-Proliferative Target for Treprostinil in Smooth Muscle Cells.
International Journal of Molecular Sciences
, 19
(8)
, Article 2372. 10.3390/ijms19082372.
|
|
|
Patel, PA;
Gibson, C;
Minhas, KS;
Stuart, S;
De Coppi, P;
Roebuck, DJ;
(2019)
Pancreatic pseudocyst drainage in children by image-guided cystogastrostomy and stent insertion.
Pediatric Radiology
10.1007/s00247-019-04471-9.
(In press).
|
|
|
Patel, PA;
Minhas, K;
Ang, J;
Stuart, S;
De Coppi, P;
Gnannt, R;
(2019)
Non-vascular interventional radiology in the paediatric alimentary tract.
European Journal of Radiology
, 112
pp. 72-81.
10.1016/j.ejrad.2018.12.012.
|
|
|
Patel, PA;
Stuart, S;
Robertson, F;
Rennie, A;
De Coppi, P;
Roebuck, DJ;
(2018)
Arterial Recanalization for Access for Arterial Intervention in Children: Techniques and Outcomes.
Journal of Vascular and Interventional Radiology
, 29
(10)
pp. 1410-1414.
10.1016/j.jvir.2018.06.001.
|
|
Pavel, AM;
Rennie, JM;
De Vries, LS;
Blennow, M;
Foran, A;
Shah, DK;
Pressler, RM;
... Boylan, GB; + view all
(2021)
Neonatal Seizure Management – Is the Timing of Treatment Critical?
The Journal of Pediatrics
10.1016/j.jpeds.2021.09.058.
(In press).
|
|
|
Pavel, AM;
Rennie, JM;
De Vries, LS;
Mathieson, SR;
Livingstone, V;
Finder, M;
Foran, A;
... ANSeR Consortium; + view all
(2024)
Temporal evolution of electrographic seizures in newborn infants with hypoxic-ischaemic encephalopathy requiring therapeutic hypothermia: a secondary analysis of the ANSeR studies.
The Lancet Child & Adolescent Health
, 8
(3)
pp. 214-224.
10.1016/S2352-4642(23)00296-1.
|
|
Pavel, Andreea M;
Mathieson, Sean R;
Livingstone, Vicki;
O’Toole, John M;
Pressler, Ronit M;
de Vries, Linda S;
Rennie, Janet M;
... Boylan, Geraldine B; + view all
(2023)
Heart rate variability analysis for the prediction of EEG grade in infants with hypoxic ischaemic encephalopathy within the first 12 h of birth.
Frontiers in Pediatrics
, 10
, Article 1016211. 10.3389/fped.2022.1016211.
|
|
Pavel, AM;
Rennie, JM;
de Vries, LS;
Blennow, M;
Foran, A;
Shah, DK;
Pressler, RM;
... Boylan, GB; + view all
(2020)
A machine-learning algorithm for neonatal seizure recognition: a multicentre, randomised, controlled trial.
The Lancet Child & Adolescent Health
, 4
(10)
pp. 740-749.
10.1016/S2352-4642(20)30239-X.
|
|
|
Pearson, TS;
Gilbert, L;
Opladen, T;
Garcia-Cazorla, A;
Mastrangelo, M;
Leuzzi, V;
Tay, SKH;
... Flint, L; + view all
(2020)
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Journal of Inherited Metabolic Disease
10.1002/jimd.12247.
(In press).
|
|
Peckham, Hannah;
Webb, Kate;
Rosser, Elizabeth C;
Butler, Gary;
Ciurtin, Coziana;
(2022)
Gender-Diverse Inclusion in Immunological Research: Benefits to Science and Health.
Frontiers in Medicine
, 9
, Article 909789. 10.3389/fmed.2022.909789.
|
|
|
Peckham, H;
de Gruijter, NM;
Raine, C;
Radziszewska, A;
Ciurtin, C;
Wedderburn, LR;
Rosser, EC;
... Deakin, CT; + view all
(2020)
Male sex identified by global COVID-19 meta-analysis as a risk factor for death and ITU admission.
Nature Communications
, 11
, Article 6317. 10.1038/s41467-020-19741-6.
|
|
|
Peggs, Karl S;
Albon, Sarah J;
Oporto Espuelas, Macarena;
Irving, Catherine;
Richardson, Rachel;
Casanovas-Company, Joan;
Wallace, Rebecca;
... Amrolia, Persis J; + view all
(2022)
Immunotherapy with CD25/CD71-allodepleted T cells to improve T-cell reconstitution after matched unrelated donor hematopoietic stem cell transplant: a randomized trial.
Cytotherapy
10.1016/j.jcyt.2022.08.010.
(In press).
|
|
Pellegata, AF;
Tedeschi, AM;
De Coppi, P;
(2018)
Whole Organ Tissue Vascularization: Engineering the Tree to Develop the Fruits.
Frontiers in Bioengineering and Biotechnology
, 6
(56)
10.3389/fbioe.2018.00056.
|
|
|
Peltola, ME;
Leitinger, M;
Halford, JJ;
Vinayan, KP;
Kobayashi, K;
Pressler, RM;
Mindruta, I;
... Beniczky, S; + view all
(2023)
Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy.
Epilepsia
, 64
(3)
pp. 602-618.
10.1111/epi.17448.
|
|
Penner, J;
Abdel-Mannan, O;
Grant, K;
Maillard, S;
Kucera, F;
Hassell, J;
Eyre, M;
... GOSH PIMS-TS MDT Group; + view all
(2021)
6-month multidisciplinary follow-up and outcomes of patients with paediatric inflammatory multisystem syndrome (PIMS-TS) at a UK tertiary paediatric hospital: a retrospective cohort study.
The Lancet Child & Adolescent Health
, 5
(7)
pp. 473-482.
10.1016/S2352-4642(21)00138-3.
|
|
Penner, Justin;
Hassell, Jane;
Brown, Julianne R;
Mankad, Kshitij;
Storey, Nathaniel;
Atkinson, Laura;
Ranganathan, Nisha;
... Morfopoulou, Sofia; + view all
(2023)
Translating metagenomics into clinical practice for complex paediatric neurological presentations.
Journal of Infection
, 87
(5)
pp. 451-458.
10.1016/j.jinf.2023.08.002.
|
|
Pensabene, L;
Salvatore, S;
D'Auria, E;
Parisi, F;
Concolino, D;
Borrelli, O;
Thapar, N;
... Saps, M; + view all
(2018)
Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children?
Nutrients
, 10
(11)
, Article 1716. 10.3390/nu10111716.
|
|
|
Pensabene, L;
Salvatore, S;
Turco, R;
Tarsitano, F;
Concolino, D;
Baldassarre, ME;
Borrelli, O;
... Saps, M; + view all
(2019)
Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge.
Jornal de Pediatria
, 95
pp. 642-656.
10.1016/j.jped.2019.03.004.
|
|
|
Peppa, Maria;
De Stavola, Bianca L;
Loukogeorgakis, Stavros;
Zylbersztejn, Ania;
Gilbert, Ruth;
De Coppi, Paolo;
(2022)
Congenital diaphragmatic hernia subtypes: Comparing birth prevalence, occurrence by maternal age, and mortality in a national birth cohort.
Paediatric and Perinatal Epidemiology
10.1111/ppe.12939.
(In press).
|
|
Pera, MC;
Coratti, G;
Bovis, F;
Pane, M;
Pasternak, A;
Montes, J;
Sansone, VA;
... iSMAC group, ,; + view all
(2021)
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
Annals of Clinical and Translational Neurology
, 8
(8)
pp. 1622-1634.
10.1002/acn3.51411.
|
|
|
Pera, MC;
Coratti, G;
Mazzone, ES;
Montes, J;
Scoto, M;
De Sanctis, R;
Main, M;
... iSMAC Consortium Group, .; + view all
(2019)
Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes.
Muscle Nerve
, 59
(4)
pp. 426-430.
10.1002/mus.26419.
|
|
Pereira, VJ;
Tuomainen, J;
Hay, N;
Mars, M;
Suchak, A;
Sell, DA;
(2020)
Identifying Predictors of Acquired Velopharyngeal Insufficiency in Cleft Lip and Palate Following Maxillary Osteotomy Using Multiple Regression Analyses.
Journal of Craniofacial Surgery
, 31
(8)
pp. 2260-2266.
10.1097/SCS.0000000000006775.
|
|
Pereira, BI;
Devine, OP;
Vukmanovic-Stejic, M;
Chambers, ES;
Subramanian, P;
Patel, N;
Virasami, A;
... Akbar, AN; + view all
(2019)
Senescent cells evade immune clearance via HLA-E-mediated NK and CD8^{+} T cell inhibition.
Nature Communications
, 10
(1)
, Article 2387. 10.1038/s41467-019-10335-5.
|
|
Pereira, VJ;
Tuomainen, J;
Hay, N;
Mars, M;
Suchak, A;
Sell, DA;
(2020)
Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Instrumental Outcomes of Velopharyngeal Function.
The Cleft Palate-Craniofacial Journal
, 57
(11)
pp. 1320-1331.
10.1177/1055665620947626.
|
|
|
Perin, S;
McCann, CJ;
De Coppi, P;
Thapar, N;
(2018)
Isolation and characterisation of mouse intestinal mesoangioblasts.
Pediatric Surgery International
10.1007/s00383-018-4373-7.
|
|
|
Perocheau, D;
Cunningham, S;
Lee, J;
Antinao Diaz, J;
Waddington, SN;
Gilmour, K;
Eaglestone, S;
... Baruteau, J; + view all
(2019)
Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort.
Human Gene Therapy
, 30
(1)
pp. 79-87.
10.1089/hum.2018.098.
|
|
Peros, Thomas;
Ray, Samiran;
Peters, Mark J;
(2023)
Authors Reply to "False reassurance about prompt reduction of hypertension in Paediatric Intensive Care".
Anaesthesia, Critical Care & Pain Medicine
, 42
(3)
, Article 101205. 10.1016/j.accpm.2023.101205.
|
|
Peros, Thomas;
Ricciardi, Federico;
Booth, John;
Ray, Samiran;
Peters, Mark J;
(2022)
Evaluation of blood pressure trajectories versus outcome in critically ill children with initial hypertension on admission to Paediatric Intensive Care.
Anaesthesia Critical Care & Pain Medicine
, 41
(6)
, Article 101149. 10.1016/j.accpm.2022.101149.
|
|
Perotti, Daniela;
Williams, Richard D;
Wegert, Jenny;
Brzezinski, Jack;
Maschietto, Mariana;
Ciceri, Sara;
Gisselsson, David;
... Pritchard-Jones, Kathy; + view all
(2024)
Hallmark discoveries in the biology of Wilms tumour.
Nature Reviews Urology
, 21
pp. 158-180.
10.1038/s41585-023-00824-0.
|
|
Perretta-Tejedor, N;
Jafree, DJ;
Long, DA;
(2020)
Endothelial-epithelial communication in polycystic kidney disease: Role of vascular endothelial growth factor signalling.
Cellular Signalling
, 72
, Article 109624. 10.1016/j.cellsig.2020.109624.
|
|
Perry, Luke;
Stimpson, Georgia;
Singh, Leeha;
Morrow, Jasper M;
Shah, Sachit;
Baranello, Giovanni;
Muntoni, Francesco;
(2023)
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
Ann Clin Transl Neurol
10.1002/acn3.51816.
|
|
|
Perucca, Emilio;
French, Jacqueline A;
Aljandeel, Ghaieb;
Balestrini, Simona;
Braga, Patricia;
Burneo, Jorge G;
Felli, Augustina Charway;
... Kapur, Jaideep; + view all
(2024)
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
Epilepsia
10.1111/epi.17877.
(In press).
|
|
Peter, Michelle;
Hammond, Jennifer;
Sanderson, Saskia C;
Gurasashvili, Jana;
Hunter, Amy;
Searle, Beverly;
Patch, Christine;
... Lewis, Celine; + view all
(2023)
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project.
European Journal of Human Genetics
10.1038/s41431-023-01470-1.
(In press).
|
|
|
Peter, Michelle;
Hammond, Jennifer;
Sanderson, Saskia C;
Gurasashvili, Jana;
Hunter, Amy;
Searle, Beverly;
Patch, Christine;
... Lewis, Celine; + view all
(2022)
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study.
European Journal of Human Genetics
10.1038/s41431-022-01065-2.
|
|
|
Peters, Mark J;
Gould, Doug W;
Ray, Samiran;
Thomas, Karen;
Chang, Irene;
Orzol, Marzena;
O'Neill, Lauran;
... Oxy-PICU Investigators of the Paediatric Critical Care Society S; + view all
(2023)
Conservative versus liberal oxygenation targets in critically ill children (Oxy-PICU): a UK multicentre, open, parallel-group, randomised clinical trial.
Lancet
10.1016/S0140-6736(23)01968-2.
|
|
Peters, Mark J;
Ramnarayan, Padmanabhan;
Scholefield, Barnaby R;
Tume, Lyvonne N;
Tasker, Robert C;
United Kingdom Paediatric Critical Care Society Study Group (PCC;
(2022)
The United Kingdom Paediatric Critical Care Society Study Group: The 20-Year Journey Toward Pragmatic, Randomized Clinical Trials.
Pediatric Critical Care Medicine
, 23
(12)
pp. 1067-1075.
10.1097/PCC.0000000000003099.
|
|
Peters, MJ;
(2021)
Linking Hyperoxia and Harm: Consequence or Merely Subsequence?
Pediatric Critical Care Medicine
, 22
(5)
pp. 501-503.
10.1097/PCC.0000000000002709.
|
|
Peters, MJ;
Shipley, R;
(2020)
Clinical Classification of Cold and Warm Shock: Is There a Signal in the Noise?
Pediatric Critical Care Medicine
, 21
(12)
pp. 1085-1087.
10.1097/PCC.0000000000002536.
|
|
Peters, Verena;
Baumgartner, Matthias;
Froese, Sean;
Morava, Eva;
Patterson, Marc;
Zschocke, Johannes;
Rahman, Shamima;
(2023)
Risk and potential of ChatGPT in scientific publishing.
Journal of Inherited Metabolic Diseases
, 46
(6)
pp. 1005-1006.
10.1002/jimd.12666.
|
|
Peters, C;
Nicholas, AK;
Schoenmakers, E;
Lyons, G;
Langham, S;
Serra, EG;
Sebire, NJ;
... Schoenmakers, N; + view all
(2019)
DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom.
Thyroid
, 29
(6)
pp. 790-801.
10.1089/thy.2018.0587.
|
|
Peters, MJ;
(2021)
Fluid resuscitation in diabetic ketoacidosis and the BPSED guidelines: what we still don't know.
Archives of Disease in Childhood - Education and Practice
10.1136/archdischild-2020-320078.
(In press).
|
|
|
Peters, MJ;
Agbeko, R;
Davis, P;
Klein, N;
Zenasi, Z;
Jones, A;
Mackerness, C;
... SCARF study investigators and the Pediatric Intensive Care Socie; + view all
(2018)
Randomized Study of Early Continuous Positive Airways Pressure in Acute Respiratory Failure in Children With Impaired Immunity (SCARF) ISRCTN82853500.
Pediatric Critical Care Medicine
, 19
(10)
pp. 939-948.
10.1097/PCC.0000000000001683.
|
|
Peters, MJ;
Jones, GA;
Eaton, S;
Wiley, D;
Ray, S;
(2018)
Risks and benefits of oxygen therapy.
Journal of Inherited Metabolic Disease
, 41
(5)
pp. 757-759.
10.1007/s10545-018-0208-x.
|
|
Peters, MJ;
Jones, GAL;
Wiley, D;
Wulff, J;
Ramnarayan, P;
Ray, S;
Inwald, D;
... Oxy-PICU Investigators for the Paediatric Intensive Care Society, .; + view all
(2018)
Conservative versus liberal oxygenation targets in critically ill children: the randomised multiple-centre pilot Oxy-PICU trial.
Intensive Care Medicine
, 44
(8)
pp. 1240-1248.
10.1007/s00134-018-5232-7.
|
|
Peters, MJ;
Khan, I;
Woolfall, K;
Deja, E;
Mouncey, PR;
Wulff, J;
Mason, A;
... Rowan, KM; + view all
(2019)
Different temperature thresholds for antipyretic intervention in critically ill children with fever due to infection: the FEVER feasibility RCT.
Health Technology Assessment
, 23
(5)
pp. 1-148.
10.3310/hta23050.
|
|
|
Peters, MJ;
Macharia, W;
Molyneux, E;
(2021)
A COASTal view: where prior beliefs and uncertainty collide.
Intensive Care Medicine
10.1007/s00134-021-06406-1.
(In press).
|
|
Peters, MJ;
Williams, HJ;
(2019)
Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU.
[Editorial comment].
Pediatric Critical Care Medicine
, 20
(11)
pp. 1087-1088.
10.1097/PCC.0000000000002091.
|
|
Peters, MJ;
Woolfall, K;
Khan, I;
Deja, E;
Mouncey, PR;
Wulff, J;
Mason, A;
... FEVER Investigators on behalf of the Paediatric Intensive Care S, .; + view all
(2019)
Permissive versus restrictive temperature thresholds in critically ill children with fever and infection: a multicentre randomized clinical pilot trial.
Critical Care
, 23
(1)
, Article 69. 10.1186/s13054-019-2354-4.
|
|
|
Petriti, B;
Williams, PA;
Lascaratos, G;
Chau, K-Y;
Garway-Heath, DF;
(2021)
Neuroprotection in Glaucoma: NAD(+)/NADH Redox State as a Potential Biomarker and Therapeutic Target.
Cells
, 10
(6)
, Article 1402. 10.3390/cells10061402.
|
|
|
Petroff, D;
Blank, V;
Newsome, PN;
Shalimar, MD;
Voican, CS;
Thiele, M;
de Lédinghen, V;
... Karlas, T; + view all
(2021)
Assessment of hepatic steatosis by controlled attenuation parameter using the M and XL probes: an individual patient data meta-analysis.
The Lancet Gastroenterology & Hepatology
, 6
(3)
pp. 185-198.
10.1016/S2468-1253(20)30357-5.
|
|
Petrushkin, Harry;
Solebo, Ameenat Lola;
(2023)
Imaging inflammation in early-onset sarcoidosis: granulomatous anterior uveitis in a 7-year-old girl.
The Lancet
, 401
(10392)
p. 1963.
10.1016/s0140-6736(23)00550-0.
|
|
Pfister, SM;
Reyes-Múgica, M;
Chan, JKC;
Hasle, H;
Lazar, AJ;
Rossi, S;
Ferrari, A;
... Alaggio, R; + view all
(2021)
A Summary of the Inaugural WHO Classification of Pediatric Tumors: Transitioning from the Optical into the Molecular Era.
Cancer Discovery
10.1158/2159-8290.CD-21-1094.
(In press).
|
|
|
Phadke, R;
Hedberg-Oldfors, C;
Scalco, RS;
Lowe, DM;
Ashworth, M;
Novelli, M;
Vara, R;
... Murphy, E; + view all
(2020)
RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature.
Journal of Inherited Metabolic Disease
, 43
(5)
pp. 1002-1013.
10.1002/jimd.12234.
|
|
Phee, LM;
Kloprogge, F;
Morris, R;
Barrett, J;
Wareham, DW;
Standing, JF;
(2019)
Pharmacokinetic-pharmacodynamic modelling to investigate in vitro synergy between colistin and fusidic acid against MDR Acinetobacter baumannii.
Journal of Antimicrobial Chemotherapy
, 74
(4)
, Article dky524. 10.1093/jac/dky524.
|
|
|
Philippin, H;
Matayan, E;
Knoll, KM;
Macha, E;
Mbishi, S;
Makupa, A;
Matsinhe, C;
... Burton, MJ; + view all
(2021)
Selective laser trabeculoplasty versus 0·5% timolol eye drops for the treatment of glaucoma in Tanzania: a randomised controlled trial.
Lancet Global Health
, 9
(11)
e1589-e1599.
10.1016/S2214-109X(21)00348-X.
|
|
|
Picariello, S;
Cerbone, M;
D’arco, F;
Gan, HW;
O’hare, P;
Aquilina, K;
Opocher, E;
... Spoudeas, HA; + view all
(2022)
A 40-Year Cohort Study of Evolving Hypothalamic Dysfunction in Infants and Young Children (<3 years) with Optic Pathway Gliomas.
Cancers
, 14
(3)
, Article 747. 10.3390/cancers14030747.
|
|
|
Piccardo, A;
Albert, NL;
Borgwardt, L;
Fahey, FH;
Hargrave, D;
Galldiks, N;
Jehanno, N;
... Zucchetta, P; + view all
(2022)
Joint EANM/SIOPE/RAPNO practice guidelines/SNMMI procedure standards for imaging of paediatric gliomas using PET with radiolabelled amino acids and [¹⁸F]FDG: version 1.0.
European Journal of Nuclear Medicine and Molecular Imaging
10.1007/s00259-022-05817-6.
(In press).
|
|
Picker, Sarah MacKenzie;
Parker, George;
Gissen, Paul;
(2023)
Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.
International Journal of Molecular Sciences
, 24
(17)
, Article 13545. 10.3390/ijms241713545.
|
|
Pickles, JC;
Mankad, K;
Aizpurua, M;
Paine, SM;
Bridges, LR;
Carceller, F;
Szychot, E;
... Jacques, TS; + view all
(2021)
A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC).
Neuropathology and Applied Neurobiology
, 47
(3)
pp. 464-467.
10.1111/nan.12680.
|
|
Pickles, JC;
Hawkins, C;
Pietsch, T;
Jacques, TS;
(2018)
CNS embryonal tumours: WHO 2016 and beyond.
Neuropathology and Applied Neurobiology
, 44
(2)
pp. 151-162.
10.1111/nan.12443.
|
|
|
Pickles, JC;
Stone, TJ;
Jacques, TS;
(2020)
Methylation-based algorithms for diagnosis: experience from neuro-oncology.
The Journal of Pathology
, 250
(5)
pp. 510-517.
10.1002/path.5397.
|
|
Pini, Veronica;
Mariot, Virginie;
Dumonceaux, Julie;
Counsell, John;
O'Neill, Helen C;
Farmer, Sarah;
Conti, Francesco;
(2022)
Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.
Scientific Reports
, 12
(1)
, Article 3756. 10.1038/s41598-022-07671-w.
|
|
|
Pinto E Vairo, F;
Pichurin, PN;
Fervenza, FC;
Nasr, SH;
Mills, K;
Schmitz, CT;
Klee, EW;
(2020)
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
BMC Nephrology
, 21
(1)
, Article 341. 10.1186/s12882-020-02012-3.
|
|
|
Pinton, Luca;
Khedr, Moustafa;
Lionello, Valentina M;
Sarcar, Shilpita;
Maffioletti, Sara M;
Dastidar, Sumitava;
Negroni, Elisa;
... Tedesco, Francesco Saverio; + view all
(2023)
3D human induced pluripotent stem cell-derived bioengineered skeletal muscles for tissue, disease and therapy modeling.
Nature Protocols
, 18
pp. 1337-1376.
10.1038/s41596-022-00790-8.
|
|
Piper, RJ;
Tangwiriyasakul, C;
Shamshiri, EA;
Centeno, M;
He, X;
Richardson, MP;
Tisdall, MM;
(2021)
Functional Connectivity of the Anterior Nucleus of the Thalamus in Pediatric Focal Epilepsy.
Frontiers in Neurology
, 12
10.3389/fneur.2021.670881.
|
|
|
Piper, Rory J;
Dasgupta, Debayan;
Eriksson, Maria H;
Ripart, Mathilde;
Moosa, Almira;
Chari, Aswin;
Seunarine, Kiran K;
... Baldeweg, Torsten; + view all
(2023)
Extent of piriform cortex resection in children with temporal lobe epilepsy.
Annals of Clinical and Translational Neurology
10.1002/acn3.51852.
(In press).
|
|
Piper, Rory J;
Richardson, R Mark;
Worrell, Gregory;
Carmichael, David W;
Baldeweg, Torsten;
Litt, Brian;
Denison, Timothy;
(2022)
Towards network-guided neuromodulation for epilepsy.
Brain
, Article awac234. 10.1093/brain/awac234.
(In press).
|
|
Piper, CJM;
Rosser, EC;
Oleinika, K;
Nistala, K;
Krausgruber, T;
Rendeiro, AF;
Banos, A;
... Mauri, C; + view all
(2019)
Aryl Hydrocarbon Receptor Contributes to the Transcriptional Program of IL-10-Producing Regulatory B Cells.
Cell Reports
, 29
(7)
1878-1892.e7.
10.1016/j.celrep.2019.10.018.
|
|
|
Piper, CJM;
Wilkinson, MGL;
Deakin, CT;
Otto, GW;
Dowle, S;
Duurland, CL;
Adams, S;
... Marques, R; + view all
(2018)
CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.
Frontiers in Immunology
, 9
, Article 1372. 10.3389/fimmu.2018.01372.
|
|
|
Pipis, M;
Feely, SME;
Polke, JM;
Skorupinska, M;
Perez, L;
Shy, RR;
Laura, M;
... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all
(2021)
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
10.1093/brain/awaa323.
(In press).
|
|
|
Piras, G;
Montiel-Equihua, C;
Chan, Y-KA;
Wantuch, S;
Stuckey, D;
Burke, D;
Prunty, H;
... Gaspar, HB; + view all
(2020)
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Molecular Therapy - Methods and Clinical Development
, 18
pp. 558-570.
10.1016/j.omtm.2020.07.001.
|
|
|
Pirazzini, C;
Azevedo, T;
Baldelli, L;
Bartoletti-Stella, A;
Calandra-Buonaura, G;
Molin, AD;
Dimitri, GM;
... PROPAG-AGEING Consortium; + view all
(2020)
A Geroscience approach for Parkinson's Disease: conceptual framework and design of PROPAG-AGEING project.
Mechanisms of Ageing and Development
10.1016/j.mad.2020.111426.
(In press).
|
|
|
Pitceathly, RDS;
Keshavan, N;
Rahman, J;
Rahman, S;
(2020)
Moving Towards Clinical Trials for Mitochondrial Diseases.
Journal of Inherited Metabolic Disease
10.1002/jimd.12281.
(In press).
|
|
|
Pizzamiglio, C;
Lahiri, N;
Nirmalananthan, N;
Sood, B;
Somalanka, S;
Ostrowski, P;
Phadke, R;
... Quinlivan, R; + view all
(2020)
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Neuromuscular Disorders
, 30
(7)
pp. 566-571.
10.1016/j.nmd.2020.05.004.
|
|
Pluijmers, B;
van de Lande, LS;
Caron, CJJM;
Wolvius, EB;
Dunaway, DJ;
Padwa, BL;
Koudstaal, MJ;
(2018)
Part 2: Is the maxillary canting and its surgical correction in patients with CFM correlated to the mandibular deformity?
Journal of Cranio-Maxillofacial Surgery
, 46
(9)
pp. 1436-1440.
10.1016/j.jcms.2018.05.044.
|
|
Pluijmers, BI;
Caron, CJJM;
van de Lande, LS;
Schaal, S;
Mathijssen, IM;
Wolvius, EB;
Bulstrode, N;
... Dunaway, DJ; + view all
(2019)
Surgical Correction of Craniofacial Microsomia: Evaluation of Interventions in 565 Patients at Three Major Craniofacial Units.
Plastic and Reconstructive Surgery
, 143
(5)
pp. 1467-1476.
10.1097/PRS.0000000000005554.
|
|
Plumb, L;
Casula, A;
Magadi, W;
Braddon, F;
Lewis, M;
Marks, SD;
Shenoy, M;
... Maxwell, H; + view all
(2018)
UK Renal Registry 20th Annual Report:
Chapter 11 Clinical, Haematological and
Biochemical Parameters in Patients on
Renal Replacement Therapy in Paediatric
Centres in the UK in 2016: National and
Centre-specific Analyses.
Nephron
, 139
(suppl1)
pp. 273-286.
10.1159/000490969.
|
|
|
Plumb, L;
Wong, E;
Casula, A;
Braddon, F;
Lewis, M;
Marks, SD;
Shenoy, M;
... Maxwell, H; + view all
(2018)
Demography of the UK Paediatric Renal Replacement Therapy Population in 2016.
Nephron
, 139
(suppl1)
pp. 105-116.
10.1159/000490962.
|
|
|
Plumptre, I;
Stuart, G;
Cerullo, A;
Kinsler, VA;
(2018)
Sedation for screening MRI in patients with congenital melanocytic naevi under the age of one is a successful, safe and economical first-line approach.
[Letter].
British Journal of Dermatology
10.1111/bjd.17263.
(In press).
|
|
|
Polanco, A;
Al-Saadi, R;
Tugnait, S;
Scobie, N;
Pritchard-Jones, K;
(2021)
Setting international standards for patient and parent involvement and engagement in childhood, adolescent and young adult cancer research: A report from a European Collaborative Workshop.
Cancer Reports
, Article e1523. 10.1002/cnr2.1523.
(In press).
|
|
Polubothu, S;
Abdin, D;
Barysch, M;
Thomas, A;
Bulstrode, N;
Evans, R;
Solman, L;
... Kinsler, VA; + view all
(2020)
Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia.
British Journal of Dermatology
, 183
(6)
pp. 1128-1130.
10.1111/bjd.19339.
|
|
Polubothu, Satyamaanasa;
Bender, Nicole;
Muthiah, Siobhan;
Zecchin, Davide;
Demetriou, Charalambos;
Martin, Sara Barberan;
Malhotra, Sony;
... Kinsler, Veronica A; + view all
(2022)
PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma.
Journal of Investigative Dermatology
10.1016/j.jid.2022.09.661.
(In press).
|
|
Polubothu, S;
Glover, M;
Holder, S;
Kinsler, V;
(2018)
Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis.
[Letter].
British Journal of Dermatology
, 179
(5)
pp. 1214-1215.
10.1111/bjd.16999.
|
|
|
Polubothu, S;
Kinsler, VA;
(2020)
Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study.
British Journal of Dermatology
, 182
(3)
pp. 721-728.
10.1111/bjd.18149.
|
|
Polubothu, S;
McGuire, N;
Al-Olabi, L;
Baird, W;
Bulstrode, N;
Chalker, J;
Josifova, D;
... Kinsler, VA; + view all
(2019)
Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.
British Journal of Dermatology
10.1111/bjd.18106.
(In press).
|
|
|
Polubothu, S;
Zecchin, D;
Al-Olabi, L;
Lionarons, DA;
Harland, M;
Horswell, S;
Thomas, AC;
... Kinsler, VA; + view all
(2021)
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genetics in Medicine
10.1038/s41436-021-01204-y.
(In press).
|
|
|
Pomeroy, E;
Stock, JT;
Wells, JCK;
(2021)
Population history and ecology, in addition to climate, influence human stature and body proportions.
Scientific Reports
, 11
, Article 274. 10.1038/s41598-020-79501-w.
|
|
|
Poole, OV;
Everett, CM;
Gandhi, S;
Marino, S;
Bugiardini, E;
Woodward, C;
Lam, A;
... Pitceathly, RDS; + view all
(2019)
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Mitochondrion
, 47
pp. 294-297.
10.1016/j.mito.2019.02.004.
|
|
Poole, OV;
Horga, A;
Hardy, SA;
Bugiardini, E;
Woodward, CE;
Hargreaves, IP;
Merve, A;
... Pitceathly, RDS; + view all
(2020)
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Neurology Genetics
, 6
(2)
, Article e413. 10.1212/nxg.0000000000000413.
(In press).
|
|
|
Poole, OV;
Uchiyama, T;
Skorupinska, I;
Skorupinska, M;
Germain, L;
Kozyra, D;
Holmes, S;
... Pitceathly, RDS; + view all
(2019)
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
European Journal of Neurology
, 26
(8)
pp. 1111-1120.
10.1111/ene.13952.
|
|
Pope, S;
Artuch, R;
Heales, S;
Rahman, S;
(2019)
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Journal of Inherited Metabolic Disease
, 42
(4)
pp. 655-672.
10.1002/jimd.12092.
|
|
Posada-Quintero, HF;
Manjur, SM;
Hossain, MB;
Marmolejo-Ramos, F;
Lee, IO;
Skuse, DH;
Thompson, DA;
(2023)
Autism spectrum disorder detection using variable frequency complex demodulation of the electroretinogram.
Research in Autism Spectrum Disorders
, 109
, Article 102258. 10.1016/j.rasd.2023.102258.
|
|
Poulter, JA;
Gravett, MSC;
Taylor, RL;
Fujinami, K;
De Zaeytijd, J;
Bellingham, J;
Rehman, AU;
... Inglehearn, CF; + view all
(2020)
New variants and in silico analyses in GRK1 associated Oguchi disease.
Human Mutation
10.1002/humu.24140.
(In press).
|
|
|
Preece, R;
Pavesi, A;
Gkazi, SA;
Stegmann, KA;
Georgiadis, C;
Tan, ZM;
Joey Aw, JY;
... Qasim, W; + view all
(2020)
CRISPR mediated base conversion allows discriminatory depletion of endogenous T cell receptors for enhanced synthetic immunity.
Molecular Therapy: Methods & Clinical Development
10.1016/j.omtm.2020.09.002.
(In press).
|
|
|
Prendergast, SC;
Strobl, A-C;
Cross, W;
Pillay, N;
Strauss, SJ;
Ye, H;
Lindsay, D;
... Amary, F; + view all
(2020)
Sarcoma and the 100,000 Genomes Project: our experience and changes to practice.
The Journal of Pathology: Clinical Research
10.1002/cjp2.174.
(In press).
|
|
|
Pressler, RM;
Cilio, MR;
Mizrahi, EM;
Moshé, SL;
Nunes, ML;
Plouin, P;
Vanhatalo, S;
... Zuberi, SM; + view all
(2021)
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Epilepsia
, 62
(3)
pp. 615-628.
10.1111/epi.16815.
|
|
Pressler, Ronit M;
Abend, Nicholas S;
Auvin, Stéphan;
Boylan, Geraldine;
Brigo, Francesco;
Cilio, Maria Roberta;
De Vries, Linda S;
... Hartmann, Hans; + view all
(2023)
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations—Special report from the ILAE Task Force on Neonatal Seizures.
Epilepsia
pp. 1-21.
10.1111/epi.17745.
(In press).
|
|
Pressler, Ronit M;
Boylan, Geraldine B;
(2022)
Translational neonatal seizure research - a reality check.
Epilepsia
, 63
(7)
pp. 1874-1879.
10.1111/epi.17276.
|
|
Pressler, RM;
(2019)
Neugeborenenanfälle.
Zeitschrift fur Epileptologie
, 32
(2)
pp. 98-106.
10.1007/s10309-018-0244-4.
|
|
|
Prete, FP;
Abdel-Aziz, T;
Morkane, C;
Brain, C;
Kurzawinski, TR;
MEN2 in Children UK Collaborative Group;
(2018)
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2.
British Journal of Surgery
, 105
(10)
pp. 1319-1327.
10.1002/bjs.10856.
|
|
|
Previtali, SC;
Gidaro, T;
Díaz-Manera, J;
Zambon, A;
Carnesecchi, S;
Roux-Lombard, P;
Spitali, P;
... Muntoni, F; + view all
(2020)
Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.
Pharmacological Research
, 159
, Article 104999. 10.1016/j.phrs.2020.104999.
|
|
|
Price, EA;
Patel, R;
Scheimberg, I;
Karaa, EK;
Sagoo, MS;
Reddy, MA;
Onadim, Z;
(2021)
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification.
Ophthalmic Genetics
, 42
(5)
pp. 604-611.
10.1080/13816810.2021.1923038.
|
|
Price-Kuehne, Fiona;
Omoyinmi, Ebun;
Younes, Maha;
Edwards, Matthew;
Eleftheriou, Despina;
Brogan, Paul;
(2023)
Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis.
Frontiers in Pediatrics
, 11
, Article 1205255. 10.3389/fped.2023.1205255.
|
|
Privitera, L;
Paraboschi, I;
Cross, K;
Giuliani, S;
(2021)
Above and Beyond Robotic Surgery and 3D Modelling in Paediatric Cancer Surgery.
Frontiers in Pediatrics
, 9
, Article 777840. 10.3389/fped.2021.777840.
|
|
|
Privitera, Laura;
Musleh, Layla;
Paraboschi, Irene;
Ogunlade, Olumide;
Ogunbiyi, Olumide;
Hutchinson, J Ciaran;
Sebire, Neil;
... Giuliani, Stefano; + view all
(2023)
Dynamic Changes in Microvascular Density Can Predict Viable and Non-Viable Areas in High-Risk Neuroblastoma.
Cancers
, 15
(3)
, Article 917. 10.3390/cancers15030917.
|
|
Privitera, Laura;
Paraboschi, Irene;
Dixit, Divyansh;
Arthurs, Owen J;
Giuliani, Stefano;
(2022)
Image-guided surgery and novel intraoperative devices for enhanced visualisation in general and paediatric surgery: a review.
Innovative Surgical Sciences
10.1515/iss-2021-0028.
(In press).
|
|
|
Privitera, Laura;
Waterhouse, Dale J;
Preziosi, Alessandra;
Paraboschi, Irene;
Ogunlade, Olumide;
Da Pieve, Chiara;
Barisa, Marta;
... Giuliani, Stefano; + view all
(2023)
Short-wave infrared imaging enables high-contrast fluorescence-guided surgery in neuroblastoma.
Cancer Research
OF1-OF13.
10.1158/0008-5472.CAN-22-2918.
|
|
|
Privitera, L;
Hales, PW;
Musleh, L;
Morris, E;
Sizer, N;
Barone, G;
Humphries, P;
... Giuliani, S; + view all
(2020)
Comparison Between Diffusion-Weighted MRI and I-123-mIBG Uptake in Primary High-Risk Neuroblastoma.
Journal of Magnetic Resonance Imaging
10.1002/jmri.27458.
|
|
|
Protonotarios, A;
Brodehl, A;
Asimaki, A;
Jager, J;
Quinn, E;
Stanasiuk, C;
Ratnavadivel, S;
... Lopes, LR; + view all
(2021)
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Canadian Journal of Cardiology
, 37
(6)
pp. 857-866.
10.1016/j.cjca.2020.11.017.
|
|
Protonotarios, A;
Wicks, E;
Ashworth, M;
Stephenson, E;
Guttmann, O;
Savvatis, K;
Sekhri, N;
... Elliott, P; + view all
(2019)
Prevalence of ¹⁸F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy.
International Journal of Cardiology
, 284
pp. 99-104.
10.1016/j.ijcard.2018.10.083.
|
|
Proud, CM;
Mercuri, E;
Finkel, RS;
Kirschner, J;
De Vivo, DC;
Muntoni, F;
Saito, K;
... Servais, L; + view all
(2023)
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Annals of Clinical and Translational Neurology
10.1002/acn3.51889.
(In press).
|
|
Provaggi, E;
Capelli, C;
Leong, J;
Kalaskar, D;
(2018)
A UK-based pilot study of current surgical practice and implant preferences in lumbar fusion surgery.
Medicine
, 97
(26)
, Article e11169. 10.1097/MD.0000000000011169.
|
|
Provaggi, E;
Capelli, C;
Rahmani, B;
Burriesci, G;
Kalaskar, D;
(2019)
3D printing assisted finite element analysis for optimising the manufacturing parameters of a lumbar fusion cage.
Materials & Design
, 163
, Article 107540. 10.1016/j.matdes.2018.107540.
|
|
|
Pujar, SS;
Martinos, MM;
Cortina-Borja, M;
Chong, WKK;
De Haan, M;
Gillberg, C;
Neville, BG;
... Chin, RF; + view all
(2018)
Long-term prognosis after childhood convulsive status epilepticus: a prospective cohort study.
The Lancet Child and Adolescent Health
, 2
(2)
pp. 103-111.
10.1016/S2352-4642(17)30174-8.
|
|
Q
|
Qiu, Yichen;
O’Neill, Nathanael;
Maffei, Benito;
Zourray, Clara;
Almacellas-Barbanoj, Amanda;
Carpenter, Jenna C;
Jones, Steffan P;
... Lignani, Gabriele; + view all
(2022)
On-demand cell-autonomous gene therapy for brain circuit disorders.
Science
, 378
(6619)
pp. 523-532.
10.1126/science.abq6656.
|
|
Quail, MA;
Muthurangu, V;
(2020)
Letter by Quail and Muthurangu Regarding Article, "Doppler-Derived Arterial Load Indices Better Reflect Left Ventricular Afterload Than Systolic Blood Pressure in Coarctation of Aorta".
Circulation: Cardiovascular Imaging
, 13
(4)
, Article e010643. 10.1161/CIRCIMAGING.120.010643.
|
|
Quail, MA;
Segers, P;
Steeden, JA;
Muthurangu, V;
(2019)
The aorta after coarctation repair - effects of calibre and curvature on arterial haemodynamics.
Journal of Cardiovascular Magnetic Resonance
, 21
, Article 22. 10.1186/s12968-019-0534-7.
|
R
|
Radziszewska, Anna;
Moulder, Zachary;
Jury, Elizabeth C;
Ciurtin, Coziana;
(2022)
CD8+ T Cell Phenotype and Function in Childhood and Adult-Onset Connective Tissue Disease.
International Journal of Molecular Sciences
, 23
(19)
, Article 11431. 10.3390/ijms231911431.
|
|
Rahman, Shamima;
Baumgartner, Matthias;
Morava, Eva;
Patterson, Marc;
Peters, Verena;
Zschocke, Johannes;
(2022)
Quo vadis now: Beyond genomics to an era of personalised medicine.
Journal of Inherited Metabolic Disease
, 45
(2)
pp. 129-131.
10.1002/jimd.12487.
|
|
Rahman, J;
Rahman, S;
(2018)
Mitochondrial medicine in the omics era.
The Lancet
, 391
(10139)
pp. 2560-2574.
10.1016/S0140-6736(18)30727-X.
|
|
Rahman, N;
Petrushkin, H;
Solebo, AL;
(2020)
Paediatric autoimmune and autoinflammatory conditions associated with uveitis.
Therapeutic Advances in Ophthalmology
, 12
pp. 1-14.
10.1177/2515841420966451.
|
|
|
Rahman, S;
(2018)
Mitochondrial diseases and status epilepticus.
Epilepsia
, 59
(S2)
pp. 70-77.
10.1111/epi.14485.
|
|
Rahman, S;
Copeland, WC;
(2018)
POLG-related disorders and their neurological manifestations.
[Review].
Nature Reviews Neurology
, 15
pp. 40-52.
10.1038/s41582-018-0101-0.
|
|
Rai, Rajeev;
Steinberg, Zohar;
Romito, Marianna;
Zinghirino, Federica;
Hu, Yi-Ting;
White, Nathan;
Naseem, Asma;
... Cavazza, Alessia; + view all
(2024)
CRISPR/Cas9-based disease modelling and functional correction of Interleukin 7 Receptor alpha Severe Combined Immunodeficiency in T-lymphocytes and hematopoietic stem cells.
Human Gene Therapy
10.1089/hum.2023.100.
(In press).
|
|
Rai, R;
Romito, M;
Rivers, E;
Turchiano, G;
Blattner, G;
Vetharoy, W;
Ladon, D;
... Cavazza, A; + view all
(2020)
Targeted gene correction of human hematopoietic stem cells for the treatment of Wiskott - Aldrich Syndrome.
Nature Communications
, 11
(1)
, Article 4034. 10.1038/s41467-020-17626-2.
|
|
|
Raina, R;
Lam, S;
Raheja, H;
Krishnappa, V;
Hothi, D;
Davenport, A;
Chand, D;
... Warady, B; + view all
(2019)
Pediatric Intradialytic Hypotension: Recommendations From the Pediatric Continuous Renal Replacement Therapy (PCRRT) Workgroup.
Pediatric Nephrology
, 34
(5)
pp. 925-941.
10.1007/s00467-018-4190-1.
|
|
Raman, S;
Chentouf, L;
DeVile, C;
Peters, MJ;
Rahman, S;
(2018)
Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders.
PLoS One
, 13
(7)
, Article e0199756. 10.1371/journal.pone.0199756.
|
|
|
Raman, S;
Ray, S;
Peters, MJ;
(2019)
Widening Evidence-Base of Risk With Hyperoxia.
[Letter].
Pediatric Critical Care Medicine
, 20
(1)
p. 99.
10.1097/PCC.0000000000001770.
|
|
Ramanan, A;
Dick, AD;
Jones, AP;
Hughes, DA;
McKay, A;
Rosala-Halas, A;
Williamson, PR;
... Beresford, MW; + view all
(2019)
Adalimumab in combination with methotrexate for refractory uveitis associated with juvenile idiopathic arthritis: a RCT.
Health Technology Assessment
, 23
(15)
10.3310/hta23150.
|
|
|
Ramanayake, S;
Moulding, DA;
Tanaka, Y;
Singh, A;
Bangham, CRM;
(2022)
Dynamics and consequences of the HTLV-1 proviral plus-strand burst.
PLOS Pathogens
, 18
(11)
, Article e1010774. 10.1371/journal.ppat.1010774.
|
|
Ramantani, Georgia;
Cserpan, Dorottya;
Tisdall, Martin;
Otte, Willem M;
Dorfmüller, Georg;
Cross, J Helen;
van Schooneveld, Monique;
... Braun, Kees PJ; + view all
(2024)
Determinants of Functional Outcome after Pediatric Hemispherotomy.
Annals of Neurology
, 95
(2)
pp. 377-387.
10.1002/ana.26830.
|
|
Ramdat Misier, KRR;
Breakey, RWF;
van de Lande, LS;
Biffi, B;
Knoops, PGM;
Schievano, S;
Caron, CJJM;
... Borghi, A; + view all
(2021)
Correlation between head shape and volumetric changes following spring-assisted posterior vault expansion.
Journal of Cranio-Maxillofacial Surgery
10.1016/j.jcms.2021.05.004.
(In press).
|
|
Ramdat Misier, KRR;
Breakey, RWF;
Caron, CJJM;
Schievano, S;
Dunaway, DJ;
Koudstaal, MJ;
Jeelani, ONU;
(2020)
Correlation of Intracranial Volume With Head Surface Volume in Patients With Multisutural Craniosynostosis.
Journal of Craniofacial Surgery
, 31
(5)
pp. 1445-1448.
10.1097/SCS.0000000000006372.
|
|
Ramnarayan, Padmanabhan;
Peters, Mark J;
(2022)
Commentary on the First-Line Support for Assistance in Breathing in Children Trials on Noninvasive Respiratory Support: Taking a Closer Look.
Pediatric Critical Care Medicine
, 23
(12)
pp. 1084-1088.
10.1097/PCC.0000000000003096.
|
|
Ramnarayan, Padmanabhan;
Richards-Belle, Alvin;
Drikite, Laura;
Saull, Michelle;
Orzechowska, Izabella;
Darnell, Robert;
Sadique, Zia;
... Rowan, Kathryn M; + view all
(2022)
Effect of High-Flow Nasal Cannula Therapy vs Continuous Positive Airway Pressure Following Extubation on Liberation From Respiratory Support in Critically III Children A Randomized Clinical Trial.
JAMA: Journal of the American Medical Association
10.1001/jama.2022.3367.
|
|
Ramnarayan, Padmanabhan;
Richards-Belle, Alvin;
Drikite, Laura;
Saull, Michelle;
Orzechowska, Izabella;
Darnell, Robert;
Sadique, Zia;
... FIRST-ABC Step-Up RCT Investigators and the Paediatric Critical; + view all
(2022)
Effect of High-Flow Nasal Cannula Therapy vs Continuous Positive Airway Pressure Therapy on Liberation From Respiratory Support in Acutely Ill Children Admitted to Pediatric Critical Care Units: A Randomized Clinical Trial.
Journal of the American Medical Association
, 328
(2)
pp. 162-172.
10.1001/jama.2022.9615.
|
|
Ramnarayan, P;
Evans, R;
Draper, ES;
Seaton, SE;
Wray, J;
Morris, S;
Pagel, C;
(2019)
Differences in access to Emergency Paediatric Intensive Care and care during Transport (DEPICT): study protocol for a mixed methods study.
BMJ Open
, 9
(7)
, Article e028000. 10.1136/bmjopen-2018-028000.
|
|
|
Ramnarayan, P;
Lister, P;
Dominguez, T;
Habibi, P;
Edmonds, N;
Canter, RR;
Wulff, J;
... United Kingdom Paediatric Intensive Care Society Study Group (PI; + view all
(2018)
FIRST-line support for Assistance in Breathing in Children (FIRST-ABC): a multicentre pilot randomised controlled trial of high-flow nasal cannula therapy versus continuous positive airway pressure in paediatric critical care.
Critical Care
, 22
(1)
, Article 144. 10.1186/s13054-018-2080-3.
|
|
|
Ramsey, Danielle;
Ramdharry, Gita;
Scoto, Mariacristina;
Muntoni, Francesco;
Wallace, Amanda;
SMA REACH UK, network;
(2022)
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement.
PLoS One
, 17
(12)
, Article e0278996. 10.1371/journal.pone.0278996.
|
|
Randhawa, JK;
Kim, ME;
Polski, A;
Reid, MW;
Mascarenhas, K;
Brown, B;
Fabian, ID;
... Berry, JL; + view all
(2021)
The effects of breastfeeding on retinoblastoma development: Results from an international multicenter retinoblastoma survey.
Cancers
, 13
(19)
, Article 4773. 10.3390/cancers13194773.
|
|
|
Rashed, AN;
Jackson, C;
Gastine, S;
Hsia, Y;
Bielicki, J;
Standing, JF;
Tomlin, S;
(2019)
Pediatric pharmacokinetics of the antibiotics in the access and watch groups of the 2019 WHO model list of essential medicines for children: a systematic review.
Expert Review of Clinical Pharmacology
, 12
(12)
pp. 1099-1106.
10.1080/17512433.2019.1693257.
|
|
Rashidi, Hassan;
Leong, Yeh Chwan;
Venner, Kerrie;
Pramod, Hema;
Fei, Qi-Zhen;
Jones, Owen JR;
Moulding, Dale;
(2022)
Generation of 3D retinal tissue from human pluripotent stem cells using a directed small molecule-based serum-free microwell platform.
Scientific Reports
, 12
, Article 6646. 10.1038/s41598-022-10540-1.
|
|
Ravenscroft, G;
Zaharieva, I;
Bortolotti, CA;
Lambrughi, M;
Pignataro, M;
Borsari, M;
Sewry, CA;
... Muntoni, F; + view all
(2018)
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Human Molecular Genetics
, 27
(24)
pp. 4263-4272.
10.1093/hmg/ddy320.
|
|
Rawlinson, S;
Asadi, F;
Saraqi, H;
Childs, B;
Ciric, L;
Cloutman-Green, E;
(2020)
Does size matter? The impact of a small but targeted cleaning training intervention within a paediatric ward.
Infection Prevention in Practice
, 2
(4)
, Article 100083. 10.1016/j.infpip.2020.100083.
|
|
|
Rawlinson, S;
Ciric, L;
Cloutman-Green, E;
(2020)
COVID-19 pandemic – let's not forget surfaces.
Journal of Hospital Infection
, 105
(4)
pp. 790-791.
10.1016/j.jhin.2020.05.022.
|
|
Ray, STJ;
Abdel-Mannan, O;
Sa, M;
Fuller, C;
Wood, GK;
Pysden, K;
Yoong, M;
... CoroNerve study group; + view all
(2021)
Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.
The Lancet Child & Adolescent Health
10.1016/S2352-4642(21)00193-0.
(In press).
|
|
|
Raywood, E;
Douglas, H;
Kapoor, K;
Filipow, N;
Murray, N;
O'Connor, R;
Stott, L;
... Main, E; + view all
(2020)
Protocol for Project Fizzyo, an analytic longitudinal observational cohort study of physiotherapy for children and young people with cystic fibrosis, with interrupted time-series design.
BMJ Open
, 10
(10)
, Article e039587. 10.1136/bmjopen-2020-039587.
|
|
|
Razavi, C;
Walker, SM;
Moonesinghe, SR;
Stricker, PA;
Pediatric Perioperative Outcomes Group;
(2020)
Pediatric perioperative outcomes: protocol for a systematic literature review and identification of a core outcome set for infants, children, and young people requiring anesthesia and surgery.
Pediatric Anaesthesia
, 30
(4)
pp. 392-400.
10.1111/pan.13825.
|
|
Readman, JB;
Acman, M;
Hamawandi, A;
Chiu, Cheng-Hsun;
Sharland, M;
Lindsay, JA;
Standing, JF;
(2023)
Cefotaxime/sulbactam plus gentamicin as a potential carbapenem- and amikacin-sparing first-line combination for neonatal sepsis in high ESBL prevalence settings.
Journal of Antimicrobial Chemotherapy
10.1093/jac/dkad177.
(In press).
|
|
|
Realini, T;
Gazzard, G;
Latina, M;
Kass, M;
(2021)
Low-energy Selective Laser Trabeculoplasty Repeated Annually: Rationale for the COAST Trial.
Journal of Glaucoma
, 30
(7)
pp. 545-551.
10.1097/IJG.0000000000001788.
|
|
Record, Christopher J;
Skorupinska, Mariola;
Laura, Matilde;
Rossor, Alexander M;
Pareyson, Davide;
Pisciotta, Chiara;
Feely, Shawna ME;
... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all
(2023)
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
, Article awad187. 10.1093/brain/awad187.
(In press).
|
|
Reddy, MA;
Butt, M;
Hinds, A-M;
Duncan, C;
Price, EA;
Sagoo, MS;
Onadim, Z;
(2021)
Prognostic Information for Known Genetic Carriers of RB1 Pathogenic Variants (Germline and Mosaic).
Ophthalmology Retina
, 5
(4)
pp. 381-387.
10.1016/j.oret.2020.08.010.
|
|
Rees, Philippa;
Callan, Caitriona;
Chadda, Karan;
Vaal, Meriel;
Diviney, James;
Sabti, Shahad;
Harnden, Fergus;
... Sutcliffe, Alastair; + view all
(2023)
School-age outcomes of children after perinatal brain injury: a systematic review and meta-analysis.
BMJ Paediatrics Open
, 7
(1)
, Article e001810. 10.1136/bmjpo-2022-001810.
|
|
|
Rees, Philippa;
Callan, Caitriona;
Chadda, Karan R;
Diviney, James;
Harnden, Fergus;
Gardiner, Julian;
Battersby, Cheryl;
... Sutcliffe, Alastair; + view all
(2023)
Childhood outcomes after low-grade intraventricular haemorrhage: A systematic review and meta-analysis.
Developmental Medicine & Child Neurology
10.1111/dmcn.15713.
(In press).
|
|
Rees, Philippa;
Callan, Caitriona;
Chadda, Karan R;
Vaal, Meriel;
Diviney, James;
Sabti, Shahad;
Harnden, Fergus;
... Sutcliffe, Alastair; + view all
(2022)
Preterm Brain Injury and Neurodevelopmental Outcomes: A Meta-analysis.
Pediatrics
, 150
(6)
, Article e2022057442. 10.1542/peds.2022-057442.
|
|
Rees, L;
(2019)
Assessment of dialysis adequacy: beyond urea kinetic measurements.
Pediatric Nephrology
, 34
(1)
pp. 61-69.
10.1007/s00467-018-3914-6.
|
|
|
Rees, M;
Nikoopour, R;
Fukuzawa, A;
Kho, AL;
Fernandez-Garcia, MA;
Wraige, E;
Bodi, I;
... Gautel, M; + view all
(2021)
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathologia
10.1007/s00401-020-02257-0.
(In press).
|
|
|
Reid, Kimberley M;
Steel, Dora;
Nair, Sanjana;
Bhate, Sanjay;
Biassoni, Lorenzo;
Sudhakar, Sniya;
Heys, Michelle;
... Kurian, Manju A; + view all
(2023)
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Cells
, 12
(7)
, Article 1046. 10.3390/cells12071046.
|
|
Reid, KM;
Spaull, R;
Salian, S;
Barwick, K;
Meyer, E;
Zhen, J;
Hirata, H;
... Kurian, MA; + view all
(2022)
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Movement Disorders
10.1002/mds.29147.
(In press).
|
|
|
Reid, C;
Arthurs, OJ;
Calder, AD;
Sebire, NJ;
Shelmerdine, SC;
(2020)
The significance of internal calcifications on perinatal post-mortem radiographs.
Clinical Radiology
, 75
, Article 561. 10.1016/j.crad.2020.03.007.
|
|
Reilly, C;
Muggeridge, A;
Cross, JH;
(2021)
The perceived impact of COVID-19 and associated restrictions on young people with epilepsy in the UK: Young people and caregiver survey.
Seizure
, 85
pp. 111-114.
10.1016/j.seizure.2020.12.024.
|
|
Reilly, C;
Atkinson, P;
Memon, A;
Jones, C;
Dabydeen, L;
Cross, JH;
Das, KB;
... Scott, RC; + view all
(2019)
Autism, ADHD and parent-reported behavioural difficulties in young children with epilepsy.
Seizure
, 71
pp. 233-239.
10.1016/j.seizure.2019.08.003.
|
|
Reilly, C;
Atkinson, P;
Memon, A;
Jones, C;
Dabydeen, L;
Das, KB;
Cross, JH;
... Scott, RC; + view all
(2018)
Parenting stress and perceived stigma in mothers of young children with epilepsy: A case-control study.
Epilepsy & Behavior
, 89
pp. 112-117.
10.1016/j.yebeh.2018.10.016.
|
|
Reilly, C;
Baldeweg, T;
Stewart, N;
Wadhwani, S;
Jones, C;
Helen Cross, J;
Heyman, I;
(2019)
Do behavior and emotions improve after pediatric epilepsy surgery? A systematic review.
Epilepsia
, 60
(5)
pp. 885-897.
10.1111/epi.14737.
|
|
Reilly, C;
Grant, M;
Bennett, S;
Murphy, T;
Heyman, I;
(2019)
Review: Physical exercise in Tourette syndrome – a systematic review.
Child and Adolescent Mental Health
, 24
(1)
pp. 3-11.
10.1111/camh.12263.
|
|
Reith, MEA;
Kortagere, S;
Wiers, CE;
Sun, H;
Kurian, MA;
Galli, A;
Volkow, ND;
(2021)
The dopamine transporter gene SLC6A3: multidisease risks.
Molecular Psychiatry
10.1038/s41380-021-01341-5.
|
|
|
Relton, EL;
Roth, NJ;
Yasa, S;
Kaleem, A;
Hermey, G;
Minnis, CJ;
Mole, SE;
... Locker, N; + view all
(2023)
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.
Journal of Biological Chemistry
, 299
(5)
, Article 104649. 10.1016/j.jbc.2023.104649.
|
|
|
Renkema, RW;
Caron, CJJM;
Pauws, E;
Wolvius, EB;
Schipper, JAM;
Rooijers, W;
Dunaway, DJ;
... Koudstaal, MJ; + view all
(2019)
Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients.
International Journal of Oral and Maxillofacial Surgery
, 48
(9)
pp. 1169-1176.
10.1016/j.ijom.2019.01.031.
|
|
Reynolds, Regina H;
Wagen, Aaron Z;
Lona-Durazo, Frida;
Scholz, Sonja W;
Shoai, Maryam;
Hardy, John;
Gagliano Taliun, Sarah A;
(2023)
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.
npj Parkinson's Disease
, 9
, Article 70. 10.1038/s41531-023-00504-1.
|
|
|
Rhodes, CJ;
Batai, K;
Bleda, M;
Haimel, M;
Southgate, L;
Germain, M;
Pauciulo, MW;
... Winslow, C; + view all
(2019)
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
The Lancet Respiratory Medicine
, 7
(3)
pp. 227-238.
10.1016/S2213-2600(18)30409-0.
|
|
|
Riachi, Melissa;
Polubothu, Satyamaanasa;
Stadnik, Paulina;
Hughes, Connor;
Martin, Sara Barberan;
Charman, Carolyn R;
Cheng, Iek Leng;
... Kinsler, Veronica A; + view all
(2021)
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
[Letter].
Journal of Investigative Dermatology
, 141
(12)
2979-2983.e1.
10.1016/j.jid.2021.02.765.
|
|
|
Riachi, M;
Yilmaz, S;
Kurnaz, E;
Aycan, Z;
Çetinkaya, S;
Tranebjærg, L;
Rendtorff, ND;
... Hussain, K; + view all
(2019)
Functional Assessment of Variants Associated with Wolfram Syndrome.
Human Molecular Genetics
, 28
(22)
pp. 3815-3824.
10.1093/hmg/ddz212.
|
|
Rice, G;
Park, S;
Gavazzi, F;
Adang, LA;
Ayuk, LA;
Van Eyck, L;
Seabra, L;
... Crow, YJ; + view all
(2020)
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Human Mutation
10.1002/humu.23975.
(In press).
|
|
|
Richards-Belle, A;
Davis, P;
Drikite, L;
Feltbower, R;
Grieve, R;
Harrison, DA;
Lester, J;
... Ramnarayan, P; + view all
(2020)
FIRST-line support for assistance in breathing in children (FIRST-ABC): a master protocol of two randomised trials to evaluate the non-inferiority of high-flow nasal cannula (HFNC) versus continuous positive airway pressure (CPAP) for non-invasive respiratory support in paediatric critical care.
BMJ Open
, 10
(8)
, Article e038002. 10.1136/bmjopen-2020-038002.
(In press).
|
|
|
Richardson, S;
Hill, RM;
Kui, C;
Lindsey, JC;
Grabovksa, Y;
Keeling, C;
Pease, L;
... Clifford, SC; + view all
(2022)
Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse.
Neuro-Oncology
, 24
(1)
pp. 153-165.
10.1093/neuonc/noab178.
|
|
Richardson, R;
Owen, N;
Toms, M;
Young, RM;
Tracey-White, D;
Moosajee, M;
(2019)
Transcriptome profiling of zebrafish optic fissure fusion.
Scientific Reports
, 9
(1)
, Article 1541. 10.1038/s41598-018-38379-5.
|
|
|
Rickard, H;
Watkin, S;
Baldwin, N;
De Souza, A;
Ciric, L;
Cloutman-Green, E;
(2023)
Antimicrobial resistance as a super wicked problem: how do we engage the public to be part of the solution.
Infection Prevention in Practice
, 5
(4)
, Article 100314. 10.1016/j.infpip.2023.100314.
|
|
Rickart, AJ;
van de Lande, LS;
O'Sullivan, E;
Ong, J;
Gill, DS;
Evans, RD;
Schievano, S;
(2021)
Maxillary Changes Following Facial Bipartition – A Three-Dimensional Quantification.
Journal of Craniofacial Surgery
, 32
(6)
pp. 2053-2057.
10.1097/SCS.0000000000007632.
|
|
Rickart, Alexander J;
van de Lande, Lara S;
O' Sullivan, Eimear;
Bloch, Kevin;
Arnaud, Eric;
Schievano, Silvia;
Jeelani, Noor Ul Owase;
... Dunaway, David J; + view all
(2023)
Comparison of Internal and External Distraction in Frontofacial Monobloc Advancement: A Three-Dimensional Quantification.
Plastic and Reconstructive Surgery
, 152
(3)
, Article e010331. 10.1097/PRS.0000000000010331.
|
|
Rickart, AJ;
Drummond-Hay, V;
Suchak, A;
Sadiq, Z;
Sebire, NJ;
Slater, O;
Mills, C;
(2019)
Melanotic neuroectodermal tumour of infancy: Refining the surgical approach.
International Journal of Oral and Maxillofacial Surgery
, 48
(10)
pp. 1307-1312.
10.1016/j.ijom.2019.02.011.
|
|
Ricotti, Valeria;
Kadirvelu, Balasundaram;
Selby, Victoria;
Festenstein, Richard;
Mercuri, Eugenio;
Voit, Thomas;
Faisal, A Aldo;
(2023)
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy.
Nature Medicine
, 29
(1)
pp. 95-103.
10.1038/s41591-022-02045-1.
|
|
Ricotti, V;
Selby, V;
Ridout, D;
Domingos, J;
Decostre, V;
Mayhew, A;
Eagle, M;
... Muntoni, F; + view all
(2019)
Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.
Neuromuscular Disorders
, 29
(4)
pp. 261-268.
10.1016/j.nmd.2019.02.002.
|
|
Riedhammer, KM;
Schmaderer, C;
Heemann, U;
Bockenhauer, D;
(2021)
Tubulopathies.
Der Nephrologe
, 16
(6)
pp. 397-410.
10.1007/s11560-021-00547-6.
|
|
Rietveld, A;
Wienke, J;
Visser, E;
Vree Egberts, W;
Schlumberger, W;
van Engelen, B;
van Royen-Kerkhof, A;
... Juvenile Dermatomyositis Research Group; + view all
(2021)
Anti‐cN‐1A autoantibodies are absent in juvenile dermatomyositis.
Arthritis & Rheumatology
, 73
(7)
pp. 1329-1333.
10.1002/art.41660.
|
|
|
Riley, Mollie;
Arigliani, Michele;
Davies, Gwyneth;
Aurora, Paul;
(2024)
Looking beyond LCI: Multiple breath washout phase III slope derived indices and their application in chronic respiratory disease in children.
Pediatric Pulmonology
10.1002/ppul.27177.
(In press).
|
|
Rio-Machin, A;
Vulliamy, T;
Hug, N;
Walne, A;
Tawana, K;
Cardoso, S;
Ellison, A;
... Dokal, I; + view all
(2020)
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nature Communications
, 11
, Article 1044. 10.1038/s41467-020-14829-5.
|
|
|
Ritzmann, TA;
Rogers, HA;
Paine, SML;
Storer, LCD;
Jacques, TS;
Chapman, RJ;
Ellison, D;
... Grundy, RG; + view all
(2020)
A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups.
Pediatric Blood & Cancer
, Article e28426. 10.1002/pbc.28426.
(In press).
|
|
|
Rivers, E;
Rai, R;
Lӧtscher, J;
Hollinshead, M;
Markelj, G;
Thaventheran, J;
Worth, AJ;
... Thrasher, AJ; + view all
(2020)
Wiskott Aldrich syndrome protein regulates non-selective autophagy and mitochondrial homeostasis in human myeloid cells.
eLife
, 9
, Article e55547. 10.7554/eLife.55547.
(In press).
|
|
|
Rivers, E;
Worth, A;
Thrasher, AJ;
Burns, SO;
(2019)
How I manage patients with Wiskott Aldrich syndrome.
British Journal of Haematology
, 185
(4)
pp. 647-655.
10.1111/bjh.15831.
|
|
Rivers, E;
Worth, A;
Thrasher, AJ;
Burns, SO;
(2018)
Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience.
[Letter].
The Journal of Allergy and Clinical Immunology: In Practice
10.1016/j.jaip.2018.07.009.
(In press).
|
|
Roach, Anna;
Bennett, Sophie;
Heyman, Isobel;
Coughtrey, Anna;
Stokes, Isabella;
Ndoci, Xhorxhina;
Balakrishnan, Sonia;
... Shafran, Roz; + view all
(2024)
Clinical effectiveness of drop-in mental health services at paediatric hospitals: A non-randomised multi-site study for children and young people and their families – study protocol.
PLoS ONE
, 19
(5)
, Article e0302878. 10.1371/journal.pone.0302878.
|
|
|
Robertson, AO;
Tadić, V;
Horvat-Gitsels, LA;
Cortina-Borja, M;
Rahi, JS;
Child Vision PROMs group;
(2021)
Differences in Self-Rated Versus Parent Proxy–Rated Vision-Related Quality of Life and Functional Vision of Visually Impaired Children.
American Journal of Ophthalmology
, 230
pp. 167-177.
10.1016/j.ajo.2021.05.017.
|
|
Robertson, A;
Tadić, V;
Cortina-Borja, M;
Rahi, J;
(2020)
Feasibility of using patient-reported outcome measures with visually impaired children/young people attending Paediatric Ophthalmology clinics.
Archives of Disease in Childhood
10.1136/archdischild-2020-318991.
(In press).
|
|
Robertson, AO;
Horvat-Gitsels, LA;
Cortina-Borja, M;
Rahi, JS;
(2021)
Distribution and associations of vision-related quality of life and functional vision of children with visual impairment.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318473.
(In press).
|
|
Robertson, AO;
Tadić, V;
Cortina-Borja, M;
Rahi, JS;
Child Vision PROMs group;
(2020)
A patient-reported outcome measure of functional vision for children and young people aged 8 to 18 years with visual impairment.
American Journal of Ophthalmology
, 219
pp. 141-153.
10.1016/j.ajo.2020.04.021.
|
|
Robertson, AO;
Tadić, V;
Rahi, JS;
(2021)
This is me: A qualitative investigation of young people's experience of growing up with visual impairment.
PLoS One
, 16
(7)
, Article e0254009. 10.1371/journal.pone.0254009.
|
|
|
Robertson, AO;
Tadić, V;
Rahi, JS;
(2020)
Attitudes, experiences, and preferences of ophthalmic professionals regarding routine use of patient-reported outcome measures in clinical practice.
PLoS One
, 15
(12)
, Article e0243563. 10.1371/journal.pone.0243563.
|
|
|
Robertson, AO;
Tadić, V;
Rahi, JS;
(2017)
Transition from paediatric to adult ophthalmology services: what matters most to young people with visual impairment.
Eye
10.1038/eye.2017.203.
(In press).
|
|
|
Robson, EA;
Dixon, L;
Causon, L;
Dawes, W;
Benenati, M;
Fassad, M;
Hirst, RA;
... O'Callaghan, C; + view all
(2020)
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.
Neurology: Genetics
, 6
(4)
, Article e482. 10.1212/NXG.0000000000000482.
|
|
|
Roche, S;
Lara-Pompa, NE;
Macdonald, S;
Fawbert, K;
Valente, J;
Williams, JE;
Hill, S;
... Fewtrell, MS; + view all
(2019)
Bioelectric impedance vector analysis (BIVA) in hospitalised children; predictors and associations with clinical outcomes.
European Journal of Clinical Nutrition
, 73
pp. 1431-1440.
10.1038/s41430-019-0436-7.
|
|
Rodriguez, Daniel;
Calmon, Raphael;
Aliaga, Esther Sanchez;
Warren, Daniel;
Warmuth-Metz, Monika;
Jones, Chris;
Mackay, Alan;
... Jaspan, Timothy; + view all
(2022)
MRI and Molecular Characterization of Pediatric High-Grade Midline Thalamic Gliomas: The HERBY Phase II Trial.
Radiology
, 304
(1)
pp. 174-182.
10.1148/radiol.211464.
|
|
Rodriguez, D;
Chambers, T;
Warmuth-Metz, M;
Aliaga, ES;
Warren, D;
Calmon, R;
Hargrave, D;
... Jaspan, T; + view all
(2019)
Evaluation of the Implementation of the Response Assessment in Neuro-Oncology Criteria in the HERBY Trial of Pediatric Patients with Newly Diagnosed High-Grade Gliomas.
In: Coecke, Bob and Kissinger, Aleks, (eds.)
(pp. pp. 568-575).
|
|
|
Rodriguez-Florez, N;
Borghi, A;
Yauwan, DD;
Heuntinck, P;
Bruse, JL;
Tenhagen, M;
Göktekin, ÖK;
... James, G; + view all
(2020)
Three-Dimensional Calvarial Growth in Spring-Assisted Cranioplasty for Correction of Sagittal Synostosis.
Journal of Craniofacial Surgery
, 31
(7)
pp. 2084-2087.
10.1097/SCS.0000000000006863.
|
|
Rodriguez-Florez, N;
Florez-Tapia, A;
Jeelani, NUO;
Schievano, S;
Dunaway, DJ;
Hayward, RD;
(2018)
Investigating the cause of late deformity following fronto-orbital remodelling for metopic synostosis using 3D CT imaging.
Journal of Cranio-Maxillofacial Surgery
, 47
(1)
pp. 170-178.
10.1016/j.jcms.2018.11.008.
|
|
Rodriguez-Martinez, Ana Catalina;
Higgins, Bethany Elora;
Tailor-Hamblin, Vijay;
Malka, Samantha;
Cheloni, Riccardo;
Collins, Alexander Mark;
Bladen, John;
... Moosajee, Mariya; + view all
(2023)
Foveal Hypoplasia in CRB1-Related Retinopathies.
International Journal of Molecular Sciences
, 24
(18)
, Article 13932. 10.3390/ijms241813932.
|
|
Roelofs, KA;
Fabian, ID;
Arora, AK;
Cohen, VML;
Sagoo, MS;
(2021)
Long-term Outcomes of Small Pigmented Choroidal Melanoma Treated with Primary Photodynamic Therapy.
Ophthalmology Retina
, 5
(5)
pp. 468-478.
10.1016/j.oret.2020.08.019.
|
|
Rogers, HJ;
Verhagen, MV;
Shelmerdine, SC;
Clark, CA;
Hales, PW;
(2019)
An alternative approach to contrast-enhanced imaging: diffusion-weighted imaging and T1-weighted imaging identifies and quantifies necrosis in Wilms tumour.
European Radiology
, 29
(8)
pp. 4141-4149.
10.1007/s00330-018-5907-z.
|
|
Rogers, HJ;
Verhagen, MV;
Clark, CA;
Hales, PW;
(2020)
Comparison of models of diffusion in Wilms' tumours and normal contralateral renal tissue.
Magnetic Resonance Materials in Physics, Biology and Medicine
10.1007/s10334-020-00862-4.
(In press).
|
|
|
Rogers, L;
Pagel, C;
Sullivan, I;
Mustafa, M;
Tsang, V;
Utley, M;
Franklin, R;
(2018)
Interventional treatments and risk factors in patients born with hypoplastic left heart syndrome in England and Wales from 2000 to 2015.
Heart
10.1136/heartjnl-2017-312448.
|
|
Rogers, L;
Ray, S;
Johnson, M;
Feinstein, Y;
Dominguez, TE;
Peters, MJ;
Hoskote, A;
(2019)
The Inadequate Oxygen Delivery Index and Low Cardiac Output Syndrome Score As predictors of Adverse Events Associated With Low Cardiac Output Syndrome Early After Cardiac Bypass.
Pediatric Critical Care Medicine
, 20
(8)
pp. 737-743.
10.1097/PCC.0000000000001960.
|
|
Rogerson, C;
Gissen, P;
(2018)
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
Biochimica et Biophysica Acta - Molecular Basis of Disease
, 1864
(5(A))
pp. 1609-1621.
10.1016/j.bbadis.2018.01.028.
|
|
|
Rohrer, B;
Parsons, N;
Annamalai, B;
Nicholson, C;
Obert, E;
Jones, BW;
Dick, AD;
(2021)
Peptide-based immunotherapy against oxidized elastin ameliorates pathology in mouse model of smoke-induced ocular injury.
Experimental Eye Research
, 212
, Article 108755. 10.1016/j.exer.2021.108755.
|
|
Roposch, A;
Protopapa, E;
Malaga-Shaw, O;
Gelfer, Y;
Humphries, P;
Ridout, D;
Wedge, JH;
(2020)
Predicting developmental dysplasia of the hip in at-risk newborns.
BMC Musculoskeletal Disorders
, 21
, Article 442. 10.1186/s12891-020-03454-4.
|
|
|
Roposch, A;
Warsame, K;
Chater, A;
Green, J;
Hunter, R;
Wood, J;
Freemantle, N;
(2020)
Study protocol for evaluation of aid to diagnosis for developmental dysplasia of the hip in general practice: controlled trial randomised by practice.
BMJ Open
, 10
(12)
, Article e041837. 10.1136/bmjopen-2020-041837.
|
|
|
Rosch, RE;
Auksztulewicz, R;
Leung, PD;
Friston, KJ;
Baldeweg, T;
(2019)
Selective Prefrontal Disinhibition in a Roving Auditory Oddball Paradigm Under N-Methyl-D-Aspartate Receptor Blockade.
Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
, 4
(2)
pp. 140-150.
10.1016/j.bpsc.2018.07.003.
|
|
Rosen, R;
Vandenplas, Y;
Singendonk, M;
Cabana, M;
Di Lorenzo, C;
Gottrand, F;
Gupta, S;
... Tabbers, M; + view all
(2018)
Pediatric Gastroesophageal Reflux Clinical Practice Guidelines: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition.
Journal of Pediatric Gastroenterology and Nutrition
, 66
(3)
pp. 516-554.
10.1097/MPG.0000000000001889.
|
|
Rosenthal, Diana Margot;
Schoenthaler, Antoinette;
Heys, Michelle;
Ucci, Marcella;
Hayward, Andrew;
Teakle, Ashlee;
Lakhanpaul, Monica;
(2023)
How Does Living in Temporary Accommodation and the COVID-19 Pandemic Impact under 5s’ Healthcare Access and Health Outcomes? A Qualitative Study of Key Professionals in a Socially and Ethnically Diverse and Deprived Area of London.
International Journal of Environmental Research and Public Health
, 20
(2)
, Article 1300. 10.3390/ijerph20021300.
|
|
Rosenthal, Diana Margot;
Ucci, Marcella;
Heys, Michelle;
Schoenthaler, Antoinette;
Lakhanpaul, Monica;
Hayward, Andrew;
Lewis, Celine;
(2022)
A Citizen Science Approach to Identifying Indoor Environmental Barriers to Optimal Health for Under 5s Experiencing Homelessness in Temporary Accommodation.
International Journal of Environmental Research and Public Health
, 19
(7)
, Article 3976. 10.3390/ijerph19073976.
|
|
Ross, T;
Tanna, R;
Lilaonitkul, W;
Mehta, N;
(2024)
Deep Learning for Automated Image Segmentation of the Middle Ear: A Scoping Review.
Otolaryngology - Head and Neck Surgery
10.1002/ohn.758.
(In press).
|
|
|
Ross, S;
Cheung, M;
Lau, C-I;
Sebire, N;
Burch, M;
Kilbride, P;
Fuller, B;
... Crompton, T; + view all
(2018)
Transplanted human thymus slices induce and support T‐cell development in mice after cryopreservation.
European Journal of Immunology
, 48
(4)
pp. 716-719.
10.1002/eji.201747193.
|
|
|
Rosser, EC;
Mauri, C;
(2021)
The emerging field of regulatory B cell immunometabolism.
Cell Metabolism
, 33
(6)
pp. 1088-1097.
10.1016/j.cmet.2021.05.008.
|
|
Rosser, Elizabeth C;
de Gruijter, Nina M;
Matei, Diana E;
(2022)
Mini-Review: Gut-Microbiota and the Sex-Bias in Autoimmunity - Lessons Learnt From Animal Models.
Frontiers in Medicine
, 9
, Article 910561. 10.3389/fmed.2022.910561.
|
|
Rosser, EC;
Lom, H;
Bending, D;
Duurland, CL;
Bajaj-Elliott, M;
Wedderburn, LR;
(2018)
Brief Report: Innate lymphoid cells and T-cells contribute to the IL-17A signature detected in the synovial fluid of patients with Juvenile Idiopathic Arthritis.
Arthritis and Rheumatology
10.1002/art.40731.
(In press).
|
|
|
Rosser, EC;
Piper, CJM;
Matei, DE;
Blair, PA;
Rendeiro, AF;
Orford, M;
Alber, DG;
... Mauri, C; + view all
(2020)
Microbiota-Derived Metabolites Suppress Arthritis by Amplifying Aryl-Hydrocarbon Receptor Activation in Regulatory B Cells.
Cell Metabolism
10.1016/j.cmet.2020.03.003.
(In press).
|
|
|
Rossignoli, G;
Krämer, K;
Lugarà, E;
Alrashidi, H;
Pope, S;
De La Fuente Barrigon, C;
Barwick, K;
... Kurian, MA; + view all
(2021)
Aromatic L-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Brain
10.1093/brain/awab123.
(In press).
|
|
|
Rossor, AM;
Sleigh, JN;
Groves, M;
Muntoni, F;
Reilly, MM;
Hoogenraad, CC;
Schiavo, G;
(2020)
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Acta Neuropathol Commun
, 8
, Article 34. 10.1186/s40478-020-00909-6.
|
|
|
Rota, IA;
Handel, AE;
Maio, S;
Klein, F;
Dhalla, F;
Deadman, ME;
Cheuk, S;
... Holländer, GA; + view all
(2021)
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Science Advances
, 7
(49)
, Article eabj9247. 10.1126/sciadv.abj9247.
|
|
|
Roth, Charlotte;
Kilpinen, Helena;
Kurian, Manju A;
Barral, Serena;
(2023)
Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies.
Frontiers in Cell and Developmental Biology
, 11
, Article 1090046. 10.3389/fcell.2023.1090046.
|
|
Rothwell, Simon;
Amos, Christopher I;
Miller, Frederick W;
Rider, Lisa G;
Lundberg, Ingrid E;
Gregersen, Peter K;
Vencovsky, Jiri;
... Myositis Genetics Consortium, .; + view all
(2023)
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation.
Arthritis & Rheumatology
10.1002/art.42434.
(In press).
|
|
Roubertie, Agathe;
Opladen, Thomas;
Brennenstuhl, Heiko;
Kuseyri Hübschmann, Oya;
Flint, Lisa;
Willemsen, Michel A;
Leuzzi, Vincenzo;
... Pearson, Toni S; + view all
(2023)
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Journal of Inherited Metabolic Disease
10.1002/jimd.12649.
(In press).
|
|
Rowlands, C;
Thomas, HB;
Lord, J;
Wai, HA;
Arno, G;
Beaman, G;
Sergouniotis, P;
... Ellingford, JM; + view all
(2021)
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Scientific Reports
, 11
, Article 20607. 10.1038/s41598-021-99747-2.
|
|
|
Roy, Prakriti;
van Peer, Sophie E;
Dandis, Rana;
Duncan, Catriona;
de Aguirre-Neto, Joaquim Caetano;
Verschuur, Arnauld;
de Camargo, Beatriz;
... van den Heuvel-Eibrink, Marry M; + view all
(2023)
Impact of the COVID-19 pandemic on paediatric renal tumour presentation and management, a SIOP renal tumour study group study.
Cancer Medicine
10.1002/cam4.6358.
(In press).
|
|
Roy, S;
Hartley, J;
Dunn, H;
Williams, R;
Williams, CA;
Breuer, J;
(2019)
Whole-genome Sequencing Provides Data for Stratifying Infection Prevention and Control Management of Nosocomial Influenza A.
Clinical Infectious Diseases
10.1093/cid/ciz020.
(In press).
|
|
|
Rudebeck, SR;
Shavel-Jessop, S;
Varadkar, S;
Owen, T;
Cross, JH;
Vargha-Khadem, F;
Baldeweg, T;
(2018)
Pre- and postsurgical cognitive trajectories and quantitative MRI changes in Rasmussen syndrome.
Epilepsia
, 59
(6)
pp. 1210-1219.
10.1111/epi.14192.
|
|
Ruggiero, A;
Pascucci, GR;
Cotugno, N;
Domínguez-Rodríguez, S;
Rinaldi, S;
Tagarro, A;
Rojo, P;
... Palma, P; + view all
(2022)
Determinants of B-Cell Compartment Hyperactivation in European Adolescents Living With Perinatally Acquired HIV-1 After Over 10 Years of Suppressive Therapy.
Frontiers in immunology
, 13
, Article 860418. 10.3389/fimmu.2022.860418.
|
|
Ruggiero, F;
Badiali, G;
Bevini, M;
Marchetti, C;
Ong, J;
Bolognesi, F;
Schievano, S;
... Borghi, A; + view all
(2021)
Parametrizing the genioplasty: a biomechanical virtual study on soft tissue behavior.
International Journal of Computer Assisted Radiology and Surgery
10.1007/s11548-021-02489-9.
(In press).
|
|
|
Ruggiero, F;
Dunaway, D;
Budden, C;
Smith, L;
Jeelani, NUO;
Schievano, S;
Ong, J;
(2022)
Finite element method for the design of implants for temporal hollowing.
JPRAS Open
, 32
pp. 18-23.
10.1016/j.jpra.2021.12.001.
|
|
|
Ruiz Nishiki, Milagros;
Cabecinha, Melissa;
Knowles, Rachel;
Peters, Catherine;
Aitkenhead, Helen;
Ifederu, Adeboye;
Schoenmakers, Nadia;
... Hardelid, Pia; + view all
(2022)
Establishing risk factors and outcomes for congenital hypothyroidism with gland in situ using population-based data linkage methods: study protocol.
BMJ Paediatrics Open
, 6
(1)
, Article e001341. 10.1136/bmjpo-2021-001341.
(In press).
|
|
S
|
Sa, M;
Green, L;
Abdel-Mannan, O;
Chong, WK;
Jacques, T;
Clarke, A;
Childs, A-M;
... Hacohen, Y; + view all
(2019)
Is chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in children the same condition as in adults?
Developmental Medicine & Child Neurology
10.1111/dmcn.13997.
(In press).
|
|
Sa, M;
Hacohen, Y;
Alderson, L;
Chong, WKK;
Anderson, G;
Jacques, TS;
Neubauer, D;
... Kaliakatsos, M; + view all
(2018)
Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation.
European Journal of Paediatric Neurology
, 22
(5)
pp. 882-888.
10.1016/j.ejpn.2018.04.010.
|
|
Sa, M;
Singh, R;
Pujar, S;
D'Arco, F;
Desai, N;
Eltze, C;
Hughes, E;
... Valentin, A; + view all
(2019)
Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes.
European Journal of Paediatric Neurology
, 23
(5)
pp. 749-754.
10.1016/j.ejpn.2019.08.001.
|
|
Sa, M;
Thornton, R;
Chong, WKK;
Kaliakatsos, M;
Hacohen, Y;
(2019)
Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.
Multiple Sclerosis Journal
, 25
(1)
pp. 125-128.
10.1177/1352458518786074.
|
|
|
Sabah, SA;
Henckel, J;
Koutsouris, S;
Rajani, R;
Hothi, H;
Skinner, JA;
Hart, AJ;
(2016)
Are all metal-on-metal hip revision operations contributing to the National Joint Registry implant survival curves? : a study comparing the London Implant Retrieval Centre and National Joint Registry datasets.
Bone & Joint Journal
, 98-B
(1)
pp. 33-39.
10.1302/0301-620X.98B1.36431.
|
|
|
Sabanathan, S;
Abdel-Mannan, O;
Mankad, K;
Siddiqui, A;
Das, K;
Carr, L;
Eltze, C;
... Hacohen, Y; + view all
(2022)
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Annals of Clinical and Translational Neurology
10.1002/acn3.51494.
(In press).
|
|
|
Sabatello, M;
Chen, Y;
Sanderson, SC;
Chung, WK;
Appelbaum, PS;
(2019)
Increasing genomic literacy among adolescents.
Genetics in Medicine
, 21
pp. 994-1000.
10.1038/s41436-018-0275-2.
|
|
Sabbatini, Daniele;
Fusto, Aurora;
Vianello, Sara;
Villa, Matteo;
Janik, Joanna;
D'Angelo, Grazia;
Diella, Eleonora;
... Pegoraro, Elena; + view all
(2022)
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Journal of Neurology
, 269
pp. 4884-4894.
10.1007/s00415-022-11133-8.
|
|
Sacchi, A;
Grassi, G;
Bordoni, V;
Lorenzini, P;
Cimini, E;
Casetti, R;
Tartaglia, E;
... Agrati, C; + view all
(2020)
Early expansion of myeloid-derived suppressor cells inhibits SARS-CoV-2 specific T-cell response and may predict fatal COVID-19 outcome.
Cell Death & Disease
, 11
, Article 921. 10.1038/s41419-020-03125-1.
|
|
|
Sacco, A;
Ushakov, F;
Thompson, D;
Peebles, D;
Pandya, P;
De Coppi, P;
Wimalasundera, R;
... Deprest, J; + view all
(2019)
Fetal surgery for open spina bifida.
[Review].
The Obstetrician & Gynaecologist
, 21
(4)
pp. 271-282.
10.1111/tog.12603.
|
|
|
Saengkaew, T;
Patel, HR;
Banerjee, K;
Butler, G;
Dattani, MT;
McGuigan, M;
Storr, HL;
... Howard, SR; + view all
(2021)
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
European Journal of Endocrinology
, 185
(5)
pp. 617-627.
10.1530/EJE-21-0387.
|
|
|
Saffioti, F;
Hall, A;
de Krijger, M;
Verheij, J;
Hubscher, SG;
Maurice, J;
Tu, VL;
... Thorburn, D; + view all
(2021)
Collagen proportionate area correlates with histological stage and predicts clinical events in primary sclerosing cholangitis.
Liver International
, 41
(11)
pp. 2681-2692.
10.1111/liv.14979.
|
|
Saito, H;
Noda, H;
Philippe, G;
Bockenhauer, D;
Loke, KY;
Hiort, O;
Silve, C;
... Jueppner, H; + view all
(2018)
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
The Journal of Clinical Endocrinology & Metabolism
, 103
(7)
pp. 2660-2669.
10.1210/jc.2018-00332.
|
|
Saketkoo, Lesley Ann;
Valenzuela, Antonia;
Kim, Susan;
McCann, Liza J;
Lood, Christian;
Wahezi, Dawn M;
Werth, Victoria P;
... International Myositis Assessment and Clinical Studies Group; + view all
(2024)
Moving forward together: collaborative landscapes of research in idiopathic inflammatory myopathies and calcinosis.
Rheumatology
, 63
(5)
pp. 1189-1191.
10.1093/rheumatology/kead331.
|
|
Sakkalou, E;
O'Reilly, MA;
Sakki, H;
Springall, C;
de Haan, M;
Salt, AT;
Dale, NJ;
(2020)
Mother-infant interactions with infants with congenital visual impairment and associations with longitudinal outcomes in cognition and language.
Journal of Child Psychology and Psychiatry
10.1111/jcpp.13308.
(In press).
|
|
|
Sakkalou, E;
Sakki, H;
O'reilly, MA;
Salt, AT;
Dale, NJ;
(2018)
Parenting stress, anxiety, and depression in mothers with visually impaired infants: a cross‐sectional and longitudinal cohort analysis.
Developmental Medicine & Child Neurology
, 60
(3)
pp. 290-298.
10.1111/dmcn.13633.
|
|
Salim, Omar;
Chari, Aswin;
Ben Zvi, Ido;
Batchelor, Rachel;
Jones, Monika;
Baldeweg, Torsten;
Cross, J Helen;
(2024)
Patient, parent and carer perspectives surrounding expedited paediatric epilepsy surgery.
Epilepsy Research
, 200
, Article 107309. 10.1016/j.eplepsyres.2024.107309.
|
|
|
Salim, Omar;
Chari, Aswin;
Zvi, Ido Ben;
Batchelor, Rachel;
Baldeweg, Torsten;
Helen Cross, J;
Tisdall, Martin;
(2023)
Clinician views regarding early surgery for paediatric epilepsy.
Seizure: European Journal of Epilepsy
, 113
pp. 80-85.
10.1016/j.seizure.2023.11.011.
|
|
Salpietro, V;
Maroofian, R;
Zaki, MS;
Wangen, J;
Ciolfi, A;
Barresi, S;
Efthymiou, S;
... Scorrano, G; + view all
(2023)
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
American Journal of Human Genetics
10.1016/j.ajhg.2023.11.012.
(In press).
|
|
Salpietro, V;
Dixon, CL;
Guo, H;
Bello, OD;
Vandrovcova, J;
Efthymiou, S;
Maroofian, R;
... Houlden, H; + view all
(2019)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nature Communications
, 10
(1)
, Article 3094. 10.1038/s41467-019-10910-w.
|
|
|
Salpietro, V;
Malintan, NT;
Llano-Rivas, I;
Spaeth, CG;
Efthymiou, S;
Striano, P;
Vandrovcova, J;
... Houlden, H; + view all
(2019)
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
American Journal of Human Genetics
, 104
(4)
pp. 721-730.
10.1016/j.ajhg.2019.02.016.
|
|
|
Samia, Pauline;
Sahu, Jitendra Kumar;
Ali, Amza;
Caraballo, Roberto Horacio;
Chan, Josephine;
Coan, Ana Carolina;
Fortini, Pablo Sebastián;
... Cross, J Helen; + view all
(2023)
Telemedicine for Individuals with epilepsy: Recommendations from International League Against Epilepsy Telemedicine Task Force.
Seizure
, 106
pp. 85-91.
10.1016/j.seizure.2023.02.005.
|
|
Sanchez Clemente, Nuria;
Penner, Justin;
Breuer, Judith;
Ip, Winnie;
Booth, Claire;
(2022)
Case Report: A Severe Paediatric Presentation of COVID-19 in APDS2 Immunodeficiency.
Frontiers in Immunology
, 13
, Article 881259. 10.3389/fimmu.2022.881259.
|
|
Sanchis, P;
Ho, CY;
Liu, Y;
Beltran, L;
Ahmad, S;
Jacob, A;
Furmanik, M;
... Shanahan, CM; + view all
(2019)
Arterial "inflammaging" drives vascular calcification in children on dialysis.
Kidney International
, 95
(4)
pp. 958-972.
10.1016/j.kint.2018.12.014.
|
|
Sanderson, SC;
Lewis, C;
Hill, M;
Peter, M;
McEntagart, M;
Gale, D;
Morris, H;
... Chitty, LS; + view all
(2021)
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.
Genetics in Medicine
10.1016/j.gim.2021.08.010.
(In press).
|
|
|
Sanderson, SC;
Lewis, C;
Patch, C;
Hill, M;
Bitner-Glindzicz, M;
Chitty, LS;
(2018)
Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.
Genetics in Medecine
, 21
pp. 1083-1091.
10.1038/s41436-018-0310-3.
|
|
|
Sanderson, SC;
Loe, BS;
Freeman, M;
Gabriel, C;
Stevenson, DC;
Gibbons, C;
Chitty, L;
(2018)
Development of the Knowledge of Genome Sequencing (KOGS) questionnaire.
Patient Education and Counseling
, 101
(11)
pp. 1966-1972.
10.1016/j.pec.2018.07.011.
|
|
Sandgaard, Katrine Schou;
Gkouleli, Triantafylia;
Attenborough, Teresa;
Adams, Stuart;
Gibbons, Deena;
Holm, Mette;
Eisen, Sarah;
... Klein, Nigel; + view all
(2022)
The importance of taking ART appropriately in children and adolescents with HIV-1 to reach the highest capacity of immune function later in life.
Frontiers Immunology
, 13
, Article 860316. 10.3389/fimmu.2022.860316.
|
|
|
Sanson, M;
Vu Hong, A;
Massourides, E;
Bourg, N;
Suel, L;
Amor, F;
Corre, G;
... Israeli, D; + view all
(2020)
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy.
Scientific Reports
, 10
(1)
, Article 9139. 10.1038/s41598-020-66016-7.
|
|
|
Sardone, V;
Ellis, M;
Torelli, S;
Feng, L;
Chambers, D;
Eastwood, D;
Sewry, C;
... Muntoni, F; + view all
(2018)
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
PLoS One
, 13
(3)
, Article e0194540. 10.1371/journal.pone.0194540.
|
|
|
Sarkar, H;
Toms, M;
Moosajee, M;
(2021)
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
International journal of molecular sciences
, 22
(16)
, Article 8863. 10.3390/ijms22168863.
|
|
|
Sarkar, H;
Dubis, AM;
Downes, S;
Moosajee, M;
(2020)
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
Frontiers in Genetics
, 11
, Article 335. 10.3389/fgene.2020.00335.
|
|
|
Sarkar, H;
Méjécase, C;
Harding, P;
Eintracht, J;
Toualbi, L;
Cunha, DL;
Moosajee, M;
(2021)
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Stem Cell Research
, 54
, Article 102449. 10.1016/j.scr.2021.102449.
|
|
|
Sarkar, H;
Mitsios, A;
Smart, M;
Skinner, J;
Welch, A;
Kalatzis, V;
Coffey, P;
... Moosajee, M; + view all
(2019)
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
Human Molecular Genetics
, 28
(11)
pp. 1865-1871.
10.1093/hmg/ddz028.
|
|
Sarkar, H;
Moore, W;
Leroy, BP;
Moosajee, M;
(2018)
CUGC for congenital primary aphakia.
European Journal of Human Genetics
, 26
(8)
pp. 1234-1237.
10.1038/s41431-018-0171-x.
|
|
|
Sarkar, H;
Moosajee, M;
(2019)
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Experimental Eye Research
, 188
, Article 107793. 10.1016/j.exer.2019.107793.
|
|
Sarkozy, A;
Foley, AR;
Zambon, AA;
Bönnemann, CG;
Muntoni, F;
(2020)
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.
Frontiers in Molecular Neuroscience
, 13
, Article 123. 10.3389/fnmol.2020.00123.
|
|
|
Sassi, L;
Ajayi, O;
Campinoti, S;
Natarajan, D;
McQuitty, C;
Siena, RR;
Mantero, S;
... Urbani, L; + view all
(2021)
A Perfusion Bioreactor for Longitudinal Monitoring of Bioengineered Liver Constructs.
Nanomaterials
, 11
(2)
, Article 275. 10.3390/nano11020275.
|
|
|
Satish, P;
Kuusk, T;
Campain, N;
Abu-Ghanem, Y;
Neves, J;
Barod, R;
El-Sheikh, S;
... Bex, A; + view all
(2021)
The European Association of Urology COVID Intermediate-priority Group is Poorly Predictive of Pathological High Risk Among Patients with Renal Tumours.
European Urology
10.1016/j.eururo.2021.05.010.
(In press).
|
|
Savvidis, S;
Gerli, MFM;
Pellegrini, M;
Massimi, L;
Hagen, CK;
Endrizzi, M;
Atzeni, A;
... Olivo, A; + view all
(2022)
Monitoring tissue engineered constructs and protocols with laboratory based x-ray phase contrast tomography.
Acta Biomaterialia
, 141
pp. 190-199.
10.1016/j.actbio.2022.01.022.
|
|
Scaglioni, D;
Catapano, F;
Ellis, M;
Torelli, S;
Chambers, D;
Feng, L;
Beck, M;
... Muntoni, F; + view all
(2021)
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
Acta Neuropathologica Communications
, 9
(1)
, Article 7. 10.1186/s40478-020-01106-1.
|
|
|
Scaglioni, D;
Ellis, M;
Catapano, F;
Torelli, S;
Chambers, D;
Feng, L;
Sewry, C;
... Phadke, R; + view all
(2020)
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
Acta Neuropathologica Communications
, 8
, Article 53. 10.1186/s40478-020-00918-5.
|
|
|
Schaefer, F;
Mekahli, D;
Emma, F;
Gilbert, RD;
Bockenhauer, D;
Cadnapaphornchai, MA;
Shi, L;
... Shoaf, SE; + view all
Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trial.
European Journal of Pediatrics
10.1007/s00431-019-03384-x.
(In press).
|
|
|
Schejtman, A;
Vetharoy, W;
Choi, U;
Rivat, C;
Theobald, N;
Piras, G;
Leon-Rico, D;
... Santilli, G; + view all
(2021)
Preclinical Optimization and Safety Studies of a New Lentiviral Gene Therapy for p47phox-Deficient Chronic Granulomatous Disease.
Human Gene Therapy
, 32
(17-18)
pp. 949-958.
10.1089/hum.2020.276.
|
|
Schejtman, A;
Aragão-Filho, WC;
Clare, S;
Zinicola, M;
Weisser, M;
Burns, SO;
Booth, C;
... Santilli, G; + view all
(2020)
Lentiviral gene therapy rescues p47phox chronic granulomatous disease and the ability to fight Salmonella infection in mice.
Gene Therapy
10.1038/s41434-020-0164-6.
(In press).
|
|
|
Schiff, ER;
Tailor, VK;
Chan, HW;
Theodorou, M;
Webster, AR;
Moosajee, M;
(2021)
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
International Journal of Molecular Sciences
, 22
(3)
, Article 1130. 10.3390/ijms22031130.
|
|
|
Schiff, ER;
Varela, MD;
Robson, AG;
Pierpoint, K;
Ba-Abbad, R;
Nutan, S;
Zein, WM;
... Webster, AR; + view all
(2020)
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
10.1002/ajmg.c.31822.
(In press).
|
|
|
Schlapbach, Luregn J;
Peters, Mark J;
(2023)
Pragmatic trials for critical illness in neonates and children.
The Lancet Child and Adolescent Health
, 7
(2)
pp. 78-79.
10.1016/s2352-4642(22)00345-5.
|
|
Schlapbach, LJ;
Gelbart, B;
Festa, M;
Australian & New Zealand Intensive Care Society Paediatric Study, .;
Kanthimathinathan, HK;
Peters, MJ;
(2019)
Global paediatric critical care research: mind the gaps.
Intensive Care Medicine
, 45
pp. 753-754.
10.1007/s00134-019-05571-8.
|
|
Schlingmann, KP;
Bandulik, S;
Mammen, C;
Tarailo-Graovac, M;
Holm, R;
Baumann, M;
König, J;
... Konrad, M; + view all
(2018)
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
The American Journal of Human Genetics
, 103
(5)
pp. 808-816.
10.1016/j.ajhg.2018.10.004.
|
|
Schlingmann, KP;
Renigunta, A;
Hoorn, EJ;
Forst, A-L;
Renigunta, V;
Atanasov, V;
Mahendran, S;
... Konrad, M; + view all
(2021)
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Journal of the American Society of Nephrology
, 32
(5)
10.1681/ASN.2020111587.
|
|
Schoeler, N;
Orford, M;
Vivekananda, U;
Simpson, Z;
Van de Bor, B;
Smith, H;
Balestrini, S;
... K.Vita® Study Group; + view all
(2021)
K.Vita®: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy.
Brain Communications
, 3
(4)
, Article fcab160. 10.1093/braincomms/fcab160.
|
|
|
Schoeler, Natasha E;
Marston, Louise;
Lyons, Laura;
Halsall, Sally;
Jain, Ruchika;
Titre-Johnson, Siobhan;
Balogun, Maryam;
... KIWE study group; + view all
(2023)
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
The Lancet Neurology
, 22
(12)
pp. 1113-1124.
10.1016/S1474-4422(23)00370-8.
|
|
Schoeler, NE;
Leu, C;
Balestrini, S;
Mudge, JM;
Steward, CA;
Frankish, A;
Leung, M-A;
... Sisodiya, SM; + view all
(2018)
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.
Epilepsia
10.1111/epi.14516.
|
|
|
Schoeler, NE;
Simpson, Z;
Zhou, R;
Pujar, S;
Eltze, C;
Cross, JH;
(2021)
Dietary Management of Children With Super-Refractory Status Epilepticus: A Systematic Review and Experience in a Single UK Tertiary Centre.
Frontiers in Neurology
, 12
, Article 643105. 10.3389/fneur.2021.643105.
|
|
|
Schon, KR;
Horvath, R;
Wei, W;
Calabrese, C;
Tucci, A;
Ibañez, K;
Ratnaike, T;
... Genomics England Research Consortium; + view all
(2021)
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
BMJ
, 375
, Article e066288. 10.1136/bmj-2021-066288.
|
|
|
Schott, JW;
León-Rico, D;
Ferreira, CB;
Buckland, KF;
Santilli, G;
Armant, MA;
Schambach, A;
... Thrasher, AJ; + view all
(2019)
Enhancing Lentiviral and Alpharetroviral Transduction of Human Hematopoietic Stem Cells for Clinical Application.
Molecular Therapy - Methods and Clinical Development
, 14
pp. 134-147.
10.1016/j.omtm.2019.05.015.
|
|
|
Schrag, Anette Eleonore;
Martino, Davide;
Wang, Hanyuying;
Ambler, Gareth;
Benaroya-Milshtein, Noa;
Buttiglione, Maura;
Cardona, Francesco;
... European Multicentre Tics in Children Study (EMTICS); + view all
(2022)
Lack of Association of Group A Streptococcal Infections and Onset of Tics: European Multicenter Tics in Children Study.
Neurology
, 98
(11)
E1175-E1183.
10.1212/WNL.0000000000013298.
|
|
Schrag, A;
Martino, D;
Apter, A;
Ball, J;
Bartolini, E;
Benaroya-Milshtein, N;
Buttiglione, M;
... EMTICS Collaborative Group; + view all
(2019)
European Multicentre Tics in Children Studies (EMTICS): protocol for two cohort studies to assess risk factors for tic onset and exacerbation in children and adolescents.
European Child and Adolescent Psychiatry
, 28
(1)
pp. 91-109.
10.1007/s00787-018-1190-4.
|
|
|
Schreglmann, Sebastian R;
Burke, Derek;
Batla, Amit;
Kresojevic, Nikola;
Wood, Nicholas;
Heales, Simon;
Bhatia, Kailash P;
(2022)
Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.
Movement Disorders
, 37
(4)
, Article e28937. 10.1002/mds.28937.
|
|
Schreglmann, Sebastian R;
Goncalves, Tomas;
Grant-Peters, Melissa;
Kia, Demis A;
Soreq, Lilach;
Ryten, Mina;
Wood, Nicholas W;
... Tomita, Kazunori; + view all
(2023)
Age-related telomere attrition in the human putamen.
Aging Cell
, Article e13861. 10.1111/acel.13861.
(In press).
|
|
|
Schreiber, Tamar;
Solebo, Ameenat Lola;
(2023)
The Experience of Menarche for Young People With Sensory and Motor Impairments: A Systematic Review.
Journal of Adolescent Health
10.1016/j.jadohealth.2023.08.014.
(In press).
|
|
Schuetz, Catharina;
Gerke, Julia;
Ege, Markus Johannes;
Walter, Jolan Eszter;
Kusters, Maaike;
Worth, Austen JJ;
Kanakry, Jennifer A;
... Neven, Bénédicte; + view all
(2023)
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Blood
, 141
(7)
pp. 713-724.
10.1182/blood.2022017667.
|
|
Schulze, K;
Vargha-Khadem, F;
Mishkin, M;
(2017)
Phonological Working Memory and FOXP2.
Neuropsychologia
, 108
pp. 147-152.
10.1016/j.neuropsychologia.2017.11.027.
|
|
|
Schütz, K;
Alecsandru, D;
Grimbacher, B;
Haddock, J;
Bruining, A;
Driessen, G;
de Vries, E;
... Chest CT in Antibody Deficiency Group, .; + view all
(2019)
Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.
Journal of Clinical Immunology
, 39
pp. 45-54.
10.1007/s10875-018-0577-9.
|
|
Scoto, M;
Finkel, R;
Mercuri, E;
Muntoni, F;
(2018)
Genetic therapies for inherited neuromuscular disorders.
The Lancet Child & Adolescent Health
, 2
(8)
pp. 600-609.
10.1016/S2352-4642(18)30140-8.
|
|
Scully, M;
Rayment, R;
Clark, A;
Westwood, JP;
Cranfield, T;
Gooding, R;
Bagot, CN;
... BSH Committee; + view all
(2023)
A British Society for Haematology Guideline: Diagnosis and management of thrombotic thrombocytopenic purpura and thrombotic microangiopathies.
British Journal of Haematology
, 203
(4)
pp. 546-463.
10.1111/bjh.19026.
|
|
Seaton, SE;
Ramnarayan, P;
Pagel, C;
Davies, P;
Draper, ES;
DEPICT Study Team;
(2020)
Impact on 30-day survival of time taken by a critical care transport team to reach the bedside of critically ill children.
Intensive Care Medicine
, 46
pp. 1953-1955.
10.1007/s00134-020-06149-5.
|
|
Seaton, SE;
Draper, ES;
Pagel, C;
Rajah, F;
Wray, J;
Ramnarayan, P;
DEPICT Study Team;
(2021)
The effect of care provided by paediatric critical care transport teams on mortality of children transported to paediatric intensive care units in England and Wales: a retrospective cohort study.
BMC Pediatrics
, 21
, Article 217. 10.1186/s12887-021-02689-x.
|
|
|
Seaton, SE;
Ramnarayan, P;
Davies, P;
Hudson, E;
Morris, S;
Pagel, C;
Rajah, F;
... DEPICT Study Team, .; + view all
(2020)
Does time taken by paediatric critical care transport teams to reach the bedside of critically ill children affect survival? A retrospective cohort study from England and Wales.
BMC Pediatrics
, 20
(1)
, Article 301. 10.1186/s12887-020-02195-6.
|
|
|
Secinaro, A;
Milano, EG;
Ciancarella, P;
Trezzi, M;
Capelli, C;
Ciliberti, P;
Cetrano, E;
... Carotti, A; + view all
(2021)
Blood flow characteristics after aortic valve neocuspidization in paediatric patients: a comparison with the Ross procedure.
European Heart Journal: Cardiovascular Imaging
10.1093/ehjci/jeab009.
(In press).
|
|
|
Seidel, MG;
Kindle, G;
Gathmann, B;
Quinti, I;
Buckland, M;
Van Montfrans, J;
Scheible, R;
... ESID Registry Working Party and collaborators; + view all
(2019)
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
The Journal of Allergy and Clinical Immunology: In Practice
, 7
(6)
pp. 1763-1770.
10.1016/j.jaip.2019.02.004.
|
|
Seker Yilmaz, B;
Davison, J;
Jones, SA;
Baruteau, J;
(2021)
Novel therapies for mucopolysaccharidosis type III.
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 129-147.
10.1002/jimd.12316.
|
|
Seker Yilmaz, Berna;
Baruteau, Julien;
Arslan, Nur;
Aydin, Halil Ibrahim;
Barth, Magalie;
Bozaci, Ayse Ergul;
Brassier, Anais;
... Gissen, Paul; + view all
(2022)
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life
, 12
(11)
, Article 1721. 10.3390/life12111721.
|
|
Seker Yilmaz, Berna;
Baruteau, Julien;
Chakrapani, Anupam;
Champion, Michael;
Chronopoulou, Efstathia;
Claridge, Lee C;
Daly, Anne;
... Gissen, Paul; + view all
(2023)
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Molecular Genetics and Metabolism Reports
, 37
, Article 101020. 10.1016/j.ymgmr.2023.101020.
(In press).
|
|
|
Seker Yilmaz, Berna;
Gissen, Paul;
(2023)
Targeting the liver to treat the eye.
EMBO Molecular Medicine
, Article e17285. 10.15252/emmm.202217285.
|
|
Seker Yilmaz, Berna;
Gissen, Paul;
(2023)
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
Biomedicines
, 11
(8)
, Article 2227. 10.3390/biomedicines11082227.
|
|
Seker Yilmaz, B;
Baruteau, J;
Rahim, AA;
Gissen, P;
(2020)
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
International Journal of Molecular Sciences
, 21
(14)
, Article 5059. 10.3390/ijms21145059.
|
|
|
Self, JE;
Taylor, R;
Solebo, AL;
Biswas, S;
Parulekar, M;
Dev Borman, A;
Ashworth, J;
... Lloyd, IC; + view all
(2020)
Cataract management in children: a review of the literature and current practice across five large UK centres.
Eye
, 34
(12)
pp. 2197-2218.
10.1038/s41433-020-1115-6.
|
|
Senthil, S;
Thrasher, AJ;
Gilmour, KC;
Wright, T;
Wynn, RF;
(2022)
Wiskott Aldrich Syndrome-2 Caused by Novel Wiskott Aldrich Syndrome Protein–Interacting Protein (WIP) Deficiency Is Associated with Juvenile Myelomonocytic Leukaemia — a Case Report.
Journal of Clinical Immunology
, 43
pp. 82-84.
10.1007/s10875-022-01367-6.
|
|
Sergott, RC;
Amorelli, GM;
Baranello, G;
Barreau, E;
Beres, S;
Kane, S;
Mercuri, E;
... Marzoli, SB; + view all
(2021)
Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy.
Annals of Clinical and Translational Neurology
, 8
(1)
pp. 54-65.
10.1002/acn3.51239.
|
|
|
Seselgyte, R;
Bryant, D;
Demetriou, C;
Ishida, M;
Peskett, E;
Moreno, N;
Morrogh, D;
... Stanier, P; + view all
(2019)
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Journal of Dental Research
, 98
(6)
pp. 659-665.
10.1177/0022034519837245.
|
|
Shafran, R;
Bennett, S;
Coughtrey, A;
Welch, A;
Walji, F;
Cross, JH;
Heyman, I;
... Moss-Morris, R; + view all
(2020)
Optimising Evidence-Based Psychological Treatment for the Mental Health Needs of Children with Epilepsy: Principles and Methods.
Clinical Child and Family Psychology Review
10.1007/s10567-019-00310-3.
(In press).
|
|
|
Shah, Reya V;
Kipper, Karin;
Baker, Emma H;
Barker, Charlotte IS;
Oldfield, Isobel;
Philips, Barbara J;
Johnston, Atholl;
... Lonsdale, Dagan O; + view all
(2023)
Population Pharmacokinetic Study of Benzylpenicillin in Critically Unwell Adults.
Antibiotics
, 12
(4)
, Article 643. 10.3390/antibiotics12040643.
|
|
Shalabi, O;
Nazzal, Z;
Natsheh, M;
Iriqat, S;
Michaelides, M;
Ghanem, M;
Aslanian, A;
... AlTalbishi, A; + view all
(2021)
Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.
BMC Ophthalmology
, 21
, Article 289. 10.1186/s12886-021-02047-6.
|
|
|
Shangaris, P;
Loukogeorgakis, SP;
Blundell, MP;
Petra, E;
Shaw, SW;
Ramachandra, DL;
Maghsoudlou, P;
... David, AL; + view all
(2018)
Long-Term Hematopoietic Engraftment of Congenic Amniotic Fluid Stem Cells After in Utero Intraperitoneal Transplantation to Immune Competent Mice.
Stem Cells and Development
, 27
(8)
pp. 515-523.
10.1089/scd.2017.0116.
|
|
|
Shariq, OA;
Lines, KE;
English, KA;
Jafar-Mohammadi, B;
Prentice, P;
Casey, R;
Challis, BG;
... Thakker, RV; + view all
(2022)
Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.
Surgery
, 171
(1)
pp. 77-87.
10.1016/j.surg.2021.04.041.
|
|
Sharma, A;
Huang, S;
Li, Y;
Brooke, RJ;
Ahmed, I;
Allewelt, HB;
Amrolia, P;
... Triplett, BM; + view all
(2021)
Outcomes of pediatric patients with therapy-related myeloid neoplasms.
Bone Marrow Transplantation
, 56
pp. 2997-3007.
10.1038/s41409-021-01448-x.
|
|
Sharma, V;
Al Saikhan, L;
Park, C;
Hughes, A;
Gu, H;
Saeed, S;
Boguslavskyi, A;
... Masters, AT; + view all
(2020)
Report from the Annual Conference of the British Society of Echocardiography, October 2018, ACC Liverpool, Liverpool.
Echo Research and Practice
, 7
(4)
, Article M1. 10.1530/ERP-20-0037.
|
|
|
Sharma, S;
Ashton, E;
Iancu, D;
Arthus, M-F;
Hayes, W;
Van't Hoff, W;
Kleta, R;
... Bockenhauer, D; + view all
(2018)
Long-term outcome in inherited Nephrogenic Diabetes Insipidus.
CKJ: Clinical Kidney Journal
10.1093/ckj/sfy027.
|
|
|
Shaw, LP;
Doyle, RM;
Kavaliunaite, E;
Spencer, H;
Balloux, F;
Dixon, G;
Harris, KA;
(2019)
Children With Cystic Fibrosis Are Infected With Multiple Subpopulations of Mycobacterium abscessus With Different Antimicrobial Resistance Profiles.
Clinical Infectious Diseases
, 69
(10)
pp. 1678-1686.
10.1093/cid/ciz069.
|
|
Shaw, L;
Moore, D;
Nunns, M;
Thompson Coon, J;
Ford, T;
Berry, V;
Walker, E;
... Garside, R; + view all
(2019)
Experiences of interventions aiming to improve the mental health and well‐being of children and young people with a long‐term physical condition: A systematic review and meta‐ethnography.
Child: Care, Health and Development
, 45
(6)
pp. 832-849.
10.1111/cch.12708.
|
|
Shaw, SW;
Peng, S-Y;
Liang, C-C;
Lin, T-Y;
Cheng, P-J;
Hsieh, T-T;
Chuang, H-Y;
... David, AL; + view all
(2021)
Prenatal transplantation of human amniotic fluid stem cell could improve clinical outcome of type III spinal muscular atrophy in mice.
Scientific Reports
, 11
(1)
, Article 9158. 10.1038/s41598-021-88559-z.
|
|
|
Shawcross, A;
Murray, C;
Pike, KC;
Horsley, A;
(2019)
A novel method for infant multiple breath washout: first report in clinical practice.
Pediatric Pulmonology
, 54
(8)
pp. 1284-1290.
10.1002/ppul.24384.
|
|
Sheck, L;
Davies, WIL;
Moradi, P;
Robson, AG;
Kumaran, N;
Liasis, AC;
Webster, AR;
... Michaelides, M; + view all
(2018)
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Ophthalmology
, 125
(6)
pp. 894-903.
10.1016/j.ophtha.2017.12.013.
|
|
|
Shelmerdine, SC;
Arthurs, OJ;
Denniston, A;
Sebire, NJ;
(2021)
Review of study reporting guidelines for clinical studies using artificial intelligence in healthcare.
BMJ Health & Care Informatics
, 28
(1)
, Article e100385. 10.1136/bmjhci-2021-100385.
|
|
|
Shelmerdine, SC;
Hutchinson, JC;
Arthurs, OJ;
Sebire, NJ;
(2020)
Latest Developments in Post-Mortem Fetal Imaging.
Prenatal Diagnosis
, 40
(1)
pp. 28-37.
10.1002/pd.5562.
|
|
Shelmerdine, SC;
Sebire, NJ;
Arthurs, OJ;
(2021)
Three-dimensional versus two-dimensional postmortem ultrasound: feasibility in perinatal death investigation.
Pediatric Radiology
, 51
(7)
pp. 1259-1266.
10.1007/s00247-020-04934-4.
|
|
Shelmerdine, SC;
Sebire, NJ;
Calder, AD;
Arthurs, OJ;
(2021)
3D cinematic rendering of fetal skeletal dysplasias using postmortem computed tomography.
Ultrasound in Obstetrics & Gynecology
, 57
(4)
pp. 659-660.
10.1002/uog.23140.
|
|
Shelmerdine, Susan C;
White, Richard D;
Liu, Hantao;
Arthurs, Owen J;
Sebire, Neil J;
(2022)
Artificial intelligence for radiological paediatric fracture assessment: a systematic review.
Insights into Imaging
, 13
, Article 94. 10.1186/s13244-022-01234-3.
|
|
Shelmerdine, SC;
Arthurs, OJ;
Gilpin, I;
Norman, W;
Jones, R;
Taylor, AM;
Sebire, NJ;
(2019)
Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI?
Prenatal Diagnosis
, 39
(9)
pp. 818-829.
10.1002/pd.5448.
|
|
Shelmerdine, SC;
Ashworth, MT;
Calder, AD;
Muthialu, N;
Arthurs, OJ;
(2019)
Micro-CT of tracheal stenosis in trisomy 21.
Thorax
, 74
(4)
pp. 419-420.
10.1136/thoraxjnl-2018-212966.
|
|
|
Shelmerdine, SC;
Chung, KL;
Hutchinson, JC;
Elliott, C;
Sebire, NJ;
Arthurs, OJ;
(2019)
Feasibility of Postmortem Imaging Assessment of Brain: Liver Volume Ratios with Pathological Validation.
Fetal Diagnosis and Therapy
10.1159/000497158.
(In press).
|
|
|
Shelmerdine, SC;
Davendralingam, N;
Palm, L;
Minden, T;
Cary, N;
Sebire, NJ;
Arthurs, OJ;
(2019)
Diagnostic Accuracy of Postmortem CT of Children: A Retrospective Single-Center Study.
American Journal of Roentgenology
, 212
(6)
pp. 1335-1347.
10.2214/AJR.18.20534.
|
|
Shelmerdine, SC;
Di Paolo, PL;
Rieter, JFMM;
Malattia, C;
Tanturri de Horatio, L;
Rosendahl, K;
(2018)
A novel radiographic scoring system for growth abnormalities and structural change in children with juvenile idiopathic arthritis of the hip.
Pediatric Radiology
, 48
(8)
pp. 1086-1095.
10.1007/s00247-018-4136-6.
|
|
|
Shelmerdine, SC;
Di Paolo, PL;
Tanturri de Horatio, L;
Malattia, C;
Magni-Manzoni, S;
Rosendahl, K;
(2018)
Imaging of the hip in juvenile idiopathic arthritis.
Pediatric Radiology
, 48
(6)
pp. 811-817.
10.1007/s00247-017-4022-7.
|
|
Shelmerdine, SC;
Gerrard, CY;
Rao, P;
Lynch, M;
Kroll, J;
Martin, D;
Miller, E;
... Arthurs, OJ; + view all
(2019)
Joint European Society of Paediatric Radiology (ESPR) and International Society for Forensic Radiology and Imaging (ISFRI) guidelines: paediatric postmortem computed tomography imaging protocol.
Pediatric Radiology
10.1007/s00247-018-04340-x.
(In press).
|
|
|
Shelmerdine, SC;
Hickson, M;
Sebire, NJ;
Arthurs, OJ;
(2019)
Post-Mortem Magnetic Resonance Imaging Appearances of Feticide in Perinatal Deaths.
Fetal Diagnosis and Therapy
, 45
(4)
pp. 221-229.
10.1159/000488940.
|
|
Shelmerdine, SC;
Hutchinson, JC;
Al-Sarraj, S;
Cary, N;
Dawson, T;
Plessis, DD;
Ince, PG;
... International Society of Forensic Radiology and Imaging, .; + view all
(2018)
British Neuropathological Society and International Society of Forensic Radiology and Imaging expert consensus statement for post mortem neurological imaging.
Neuropathology and Applied Neurobiology
, 44
(7)
pp. 663-672.
10.1111/nan.12482.
|
|
Shelmerdine, SC;
Hutchinson, JC;
Kang, X;
Suich, JD;
Ashworth, M;
Cannie, MM;
Segers, V;
... Arthurs, OJ; + view all
(2018)
Novel usage of microfocus computed tomography (micro-CT) for visualisation of human embryonic development-Implications for future non-invasive post-mortem investigation.
Prenatal Diagnosis
, 38
(7)
pp. 538-542.
10.1002/pd.5281.
|
|
Shelmerdine, SC;
Hutchinson, JC;
Lewis, C;
Simcock, IC;
Sekar, T;
Sebire, NJ;
Arthurs, OJ;
(2021)
A pragmatic evidence-based approach to post-mortem perinatal imaging.
Insights Imaging
, 12
(1)
, Article 101. 10.1186/s13244-021-01042-1.
|
|
|
Shelmerdine, SC;
Hutchinson, JC;
Ward, L;
Sekar, T;
Ashworth, MT;
Levine, S;
Sebire, NJ;
(2020)
INTACT (INcision‐less TArgeted Core Tissue) biopsy procedure for perinatal autopsy: initial feasibility.
Ultrasound in Obstetrics & Gynecology
, 55
(5)
pp. 667-675.
10.1002/uog.20387.
|
|
|
Shelmerdine, SC;
Klein, W;
Arthurs, OJ;
(2019)
Neonatal Autopsy: A 21st Century Approach?
[Letter].
Neonatology
, 115
(3)
pp. 275-276.
10.1159/000495912.
|
|
Shelmerdine, SC;
Langan, D;
Hutchinson, JC;
Hickson, M;
Pawley, K;
Suich, J;
Palm, L;
... DRIFT Study Research group; + view all
(2018)
Chest radiographs versus CT for the detection of rib fractures in children (DRIFT): a diagnostic accuracy observational study.
The Lancet Child & Adolescent Health
, 2
(11)
pp. 802-811.
10.1016/S2352-4642(18)30274-8.
|
|
|
Shelmerdine, SC;
Langan, D;
Mandalia, U;
Sebire, NJ;
Arthurs, OJ;
(2019)
Maceration determines diagnostic yield of fetal and neonatal whole body post‐mortem ultrasound.
Prenatal Diagnosis
10.1002/pd.5615.
(In press).
|
|
|
Shelmerdine, SC;
Main, C;
Hutchinson, JC;
Langan, D;
Sebire, NJ;
Arthurs, OJ;
(2018)
The use of whole body diffusion-weighted post-mortem magnetic resonance imaging in timing of perinatal deaths.
International Journal of Legal Medicine
10.1007/s00414-018-1906-5.
|
|
|
Shelmerdine, SC;
Sebire, NJ;
Arthurs, OJ;
(2019)
Perinatal post mortem ultrasound (PMUS): a practical approach.
Insights Imaging
, 10
(1)
, Article 35. 10.1186/s13244-019-0723-9.
|
|
|
Shelmerdine, SC;
Sebire, NJ;
Arthurs, OJ;
(2019)
Perinatal post-mortem ultrasound (PMUS): radiological-pathological correlation.
Insights Imaging
, 10
, Article 81. 10.1186/s13244-019-0762-2.
|
|
|
Shelmerdine, SC;
Simcock, IC;
Ciaran Hutchinson, J;
Guy, A;
Ashworth, MT;
Sebire, NJ;
Arthurs, OJ;
(2020)
Post-mortem micro-CT for non-invasive autopsies: Experience in > 250 human fetuses.
American Journal of Obstetrics and Gynecology
10.1016/j.ajog.2020.07.019.
(In press).
|
|
|
Shelmerdine, SC;
Simcock, IC;
Hutchinson, JC;
Aughwane, R;
Melbourne, A;
Nikitichev, DI;
Ong, J-L;
... Arthurs, OJ; + view all
(2018)
3D printing from microfocus computed tomography (micro-CT) in human specimens: education and future implications.
British Journal of Radiology
, 91
(1088)
, Article 20180306. 10.1259/bjr.20180306.
|
|
Shelmerdine, SC;
Singh, M;
Norman, W;
Jones, R;
Sebire, NJ;
Arthurs, OJ;
(2019)
Automated data extraction and report analysis in computer-aided radiology audit: practice implications from post-mortem paediatric imaging.
Clinical Radiology
, 74
(9)
733.e11-733.e18.
10.1016/j.crad.2019.04.021.
|
|
Shelmerdine, SC;
Singh, M;
Simcock, I;
Calder, AD;
Ashworth, M;
Beleza, A;
Sebire, NJ;
(2019)
Characterization of Bardet–Biedl syndrome by postmortem microfocus computed tomography (micro‐CT).
[Letter].
Ultrasound in Obstetrics & Gynecology
, 53
(1)
pp. 132-134.
10.1002/uog.19190.
|
|
Shen, L;
Patel, JA;
Norel, X;
Moledina, S;
Whittle, BJ;
von Kessler, K;
Sista, P;
(2019)
Pharmacology of the single isomer, esuberaprost (beraprost-314d) on pulmonary vascular tone, IP receptors and human smooth muscle proliferation in pulmonary hypertension.
Biochemical Pharmacology
, 166
pp. 242-256.
10.1016/j.bcp.2019.05.026.
|
|
Sheriff, Ibrahim HN;
Karaa, Esin K;
Chowdhury, Tanzina;
Scheimberg, Irene;
Duncan, Catriona;
Reddy, M Ashwin;
Sagoo, Mandeep S;
(2022)
Systemic adjuvant chemotherapy for advanced malignant ocular medulloepithelioma.
Eye
10.1038/s41433-022-01936-4.
(In press).
|
|
|
Sherratt, F;
Allin, B;
Kirkham, J;
Walker, E;
Young, B;
Wood, W;
Beasant, L;
... Hall, N; + view all
(2020)
A core outcome set for uncomplicated acute appendicitis research in children and young people.
British Journal of Surgery
10.1002/bjs.11508.
(In press).
|
|
|
Shi, H;
Zhou, P;
Li, J;
Liu, C;
Wang, L;
(2021)
Functional Gradient Metallic Biomaterials: Techniques, Current Scenery, and Future Prospects in the Biomedical Field.
Frontiers in Bioengineering and Biotechnology
, 8
, Article 616845. 10.3389/fbioe.2020.616845.
|
|
|
Shields, AM;
Burns, SO;
Savic, S;
Richter, AG;
UK PIN COVID-19 Consortium, .;
(2021)
COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.
Journal of Allergy and Clinical Immunology
, 147
(3)
870-875.e1.
10.1016/j.jaci.2020.12.620.
|
|
|
Shigeta, Yusuke;
Saleh, Tarek;
Benedetti, Giada;
Caciolli, lorenzo;
Chang, Jinke;
Zambaiti, Elisa;
Lei, Wu;
... De Coppi, Paolo; + view all
(2023)
Stomach Engineering: Region-specific Characterization of the Decellularized Porcine Stomach.
Pediatric Surgery International
, 40
, Article 13. 10.1007/s00383-023-05591-y.
|
|
Shillitoe, B;
Bangs, C;
Guzman, D;
Gennery, AR;
Longhurst, HJ;
Slatter, M;
Edgar, DM;
... Buckland, M; + view all
(2018)
The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017.
Clinical and Experimental Immunology
, 192
(3)
pp. 284-291.
10.1111/cei.13125.
|
|
Shipa, Muhammad RA;
Heyer, Nicola;
Mansoor, Rashid;
Deakin, Claire T;
Madenidou, Anastasia-Vasiliki;
Bouraioui, Aicha;
Fisher, Corinne;
... Sen, Debajit; + view all
(2022)
Adalimumab or Etanercept as first line biologic therapy in Enthesitis related arthritis (ERA) - a drug-survival single centre study spanning 10 years.
Seminars in Arthritis and Rheumatism
, 55
, Article 152038. 10.1016/j.semarthrit.2022.152038.
|
|
Shirley, Meghan;
Arthurs, Owen;
Seunarine, K;
Cole, Tim;
Eaton, Simon;
Williams, J;
Clark, Chris;
(2022)
Implications of leg length for metabolic health and fitness.
Evolution Medicine and Public Health
, 10
(1)
pp. 316-324.
10.1093/emph/eoac023.
|
|
Shirley, MK;
Cole, TJ;
Arthurs, OJ;
Clark, CA;
Wells, JCK;
(2020)
Developmental origins of variability in pelvic dimensions: Evidence from nulliparous South Asian women in the United Kingdom.
American Journal of Human Biology
, 32
(2)
, Article e23340. 10.1002/ajhb.23340.
|
|
|
Shirley, M;
Arthurs, O;
Seunarine, K;
Cole, T;
Eaton, SJ;
Williams, J;
Clark, C;
(2019)
Metabolic rate of major organs and tissues in young adult South Asian women.
European Journal of Clinical Nutrition
, 73
pp. 1164-1171.
10.1038/s41430-018-0362-0.
|
|
Shivpuri, Abhay;
Turtsevich, Inga;
Solebo, Ameenat Lola;
Compeyrot-Lacassagne, Sandrine;
(2022)
Pediatric uveitis: Role of the pediatrician.
Frontiers in Pediatrics
, 10
, Article 874711. 10.3389/fped.2022.874711.
|
|
Shkurka, E;
Wray, J;
Peters, M;
Shannon, H;
(2021)
Chest Physiotherapy for Mechanically Ventilated Children: A Systematic Review.
Journal of Pediatric Intensive Care
10.1055/s-0041-1732448.
(In press).
|
|
Shoemark, A;
Rubbo, B;
Legendre, M;
Fassad, MR;
Haarman, EG;
Best, S;
Bon, ICM;
... Lucas, JS; + view all
(2021)
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
European Respiratory Journal
, 58
(2)
, Article 2002359. 10.1183/13993003.02359-2020.
|
|
Shoemark, A;
Burgoyne, T;
Kwan, R;
Dixon, M;
Patel, MP;
Rogers, AV;
Onoufriadis, A;
... Hogg, C; + view all
(2018)
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
European Respiratory Journal
, 51
(2)
, Article 1701809. 10.1183/13993003.01809-2017.
|
|
Shoop-Worrall, SJ;
Verstappen, SM;
McDonagh, JE;
Baildam, E;
Chieng, A;
Davidson, J;
Foster, H;
... Hyrich, KL; + view all
(2018)
Long‐Term Outcomes Following Achievement of Clinically Inactive Disease in Juvenile Idiopathic Arthritis.
Arthritis & Rheumatology
, 70
(9)
pp. 1519-1529.
10.1002/art.40519.
|
|
|
Shoop-Worrall, SJW;
Hyrich, KL;
Verstappen, SM;
Sergeant, JC;
Baildam, E;
Chieng, A;
Davidson, J;
... McDonagh, JE; + view all
(2020)
Comparing Proxy, Adolescent and Adult Assessments of Functional Ability in Adolescents with Juvenile Idiopathic Arthritis.
Arthritis Care and Research
, 72
(4)
pp. 517-524.
10.1002/acr.23877.
|
|
|
Shoop-Worrall, SJW;
Hyrich, KL;
Wedderburn, LR;
Thomson, W;
Geifman, N;
Baildam, E;
Barnes, M;
... Yarwood, A; + view all
(2020)
Patient-reported wellbeing and clinical disease measures over time captured by multivariate trajectories of disease activity in individuals with juvenile idiopathic arthritis in the UK: a multicentre prospective longitudinal study.
The Lancet Rheumatology
10.1016/s2665-9913(20)30269-1.
(In press).
|
|
|
Shoop-Worrall, SJW;
Wu, Q;
Davies, R;
Hyrich, KL;
Wedderburn, LR;
(2019)
Predicting disease outcomes in juvenile idiopathic arthritis: challenges, evidence, and new directions.
The Lancet Child & Adolescent Health
, 3
(10)
pp. 725-733.
10.1016/S2352-4642(19)30188-9.
|
|
Shrestha, A;
Picoy, J;
Torres, A;
Moore, DA;
Gilman, RH;
Coronel, J;
Grandjean, L;
(2021)
A case report of transmission and disease caused by Mycobacterium caprae and Mycobacterium bovis in Lima, Peru.
BMC Infectious Diseases
, 21
, Article 1265. 10.1186/s12879-021-06944-5.
|
|
|
Shroff, R;
Bayazit, A;
Stefanidis, CJ;
Askiti, V;
Azukaitis, K;
Canpolat, N;
Agbas, A;
... Schmitt, CP; + view all
(2018)
Effect of haemodiafiltration vs conventional haemodialysis on growth and cardiovascular outcomes in children - the HDF, heart and height (3H) study.
BMC Nephrology
, 19
, Article 199. 10.1186/s12882-018-0998-y.
|
|
|
Shroff, R;
Smith, C;
Ranchin, B;
Bayazit, AK;
Stefanidis, CJ;
Askiti, V;
Azukaitis, K;
... Schaefer, F; + view all
(2019)
Effects of Hemodiafiltration versus Conventional Hemodialysis in Children with ESKD: The HDF, Heart and Height Study.
Journal of the American Society of Nephrology
, 30
(4)
pp. 678-691.
10.1681/ASN.2018100990.
|
|
|
Sidlauskaite, E;
Le Gall, L;
Mariot, V;
Dumonceaux, J;
(2020)
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.
Journal of Personalized Medicine
, 10
(3)
, Article 73. 10.3390/jpm10030073.
|
|
|
Sidler, M;
Shah, P;
Ashworth, M;
De Coppi, P;
(2019)
Laparoscopic resection of pancreatic neck lesion with Roux-en-Y pancreatico-jejunostomy.
Journal of Pediatric Surgery Case Reports
, 40
pp. 71-75.
10.1016/j.epsc.2018.10.018.
|
|
|
Sidler, M;
Wong, Z;
Eaton, S;
Ahmad, N;
Ong, M;
Morsi, A;
Rees, C;
... De Coppi, P; + view all
(2020)
Insufflation in minimally invasive surgery: is there any advantage in staying low?
Journal of Pediatric Surgery
, 55
(7)
pp. 1356-1362.
10.1016/j.jpedsurg.2019.11.026.
|
|
Sievers, P;
Sill, M;
Schrimpf, D;
Stichel, D;
Reuss, DE;
Sturm, D;
Hench, J;
... Sahm, F; + view all
(2021)
A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.
Neuro-Oncology,
, 23
(1)
pp. 34-43.
10.1093/neuonc/noaa251.
|
|
Sievers, Philipp;
Sill, Martin;
Schrimpf, Daniel;
Abdullaev, Zied;
Donson, Andrew M;
Lake, Jessica A;
Friedel, Dennis;
... Jones, David TW; + view all
(2023)
Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature.
npj Precision Oncology
, 7
(1)
, Article 30. 10.1038/s41698-023-00372-1.
|
|
Sievers, Philipp;
Sill, Martin;
Schrimpf, Daniel;
Friedel, Dennis;
Sturm, Dominik;
Gardberg, Maria;
Kurian, Kathreena M;
... Sahm, Felix; + view all
(2022)
Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases.
Acta Neuropathologica
10.1007/s00401-022-02492-7.
(In press).
|
|
Silva, AHD;
Habermann, S;
Craven, CL;
Bhagawati, D;
O’Hare, P;
Jorgensen, M;
Dahl, C;
... Aquilina, K; + view all
(2023)
Atypical teratoid rhabdoid tumours (ATRTs)—a 21-year institutional experience.
Child's Nervous System
, 39
pp. 1509-1518.
10.1007/s00381-023-05828-0.
|
|
Silva, AP;
Almeida, ARM;
Cachucho, A;
Neto, JL;
Demeyer, S;
Ramos de Matos, M;
Hogan, T;
... Barata, JT; + view all
(2021)
Overexpression of wild type IL-7Rα promotes T-cell acute lymphoblastic leukemia/lymphoma.
Blood
, 138
(12)
pp. 1040-1052.
10.1182/blood.2019000553.
|
|
Silveira-Moriyama, L;
Kovac, S;
Kurian, MA;
Houlden, H;
Lees, AJ;
Walker, MC;
Roze, E;
... Warner, TT; + view all
(2018)
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Development Medicine and Child Neurology
, 60
(6)
pp. 559-565.
10.1111/dmcn.13744.
|
|
Silvennoinen, K;
Puvirajasinghe, C;
Hudgell, K;
Sidhu, MK;
Martins Custodio, H;
Genomics England Research Consortium, .;
Jones, WD;
... Sisodiya, SM; + view all
(2021)
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Epilepsia Open
10.1002/epi4.12525.
(In press).
|
|
|
Silwal, A;
Pitt, M;
Phadke, R;
Mankad, K;
Davison, JE;
Rossor, A;
DeVile, C;
... Munot, P; + view all
(2018)
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Neuromuscular Disorders
, 28
(9)
pp. 757-765.
10.1016/j.nmd.2018.06.001.
|
|
|
Silwal, A;
Sarkozy, A;
Scoto, M;
Ridout, D;
Schmidt, A;
Laverty, A;
Henriques, M;
... Muntoni, F; + view all
(2020)
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
Annals of Clinical and Translational Neurology
, 7
(11)
pp. 2288-2296.
10.1002/acn3.51218.
|
|
|
Simcock, IC;
Lamouroux, A;
Sebire, NJ;
Shelmerdine, SC;
Arthurs, OJ;
(2023)
Less-invasive autopsy for early pregnancy loss.
Prenatal Diagnosis
10.1002/pd.6361.
(In press).
|
|
|
Simcock, IC;
Shelmerdine, SC;
Hutchinson, JC;
Sebire, NJ;
Arthurs, OJ;
(2021)
Human fetal whole-body postmortem microfocus computed tomographic imaging.
Nature Protocols
, 16
(5)
pp. 2594-2614.
10.1038/s41596-021-00512-6.
|
|
Simcock, IC;
Hutchinson, JC;
Shelmerdine, SC;
Matos, JN;
Sebire, NJ;
Fuentes, VL;
Arthurs, OJ;
(2020)
Investigation of optimal sample preparation conditions with potassium triiodide and optimal imaging settings for microfocus computed tomography of excised cat hearts.
American Journal of Veterinary Research
, 81
(4)
pp. 326-333.
10.2460/ajvr.81.4.326.
|
|
Simcock, IC;
Shelmerdine, SC;
Langan, D;
Anna, G;
Sebire, NJ;
Arthurs, OJ;
(2021)
Micro-CT yields high image quality in human fetal post-mortem imaging despite maceration.
BMC Medical Imaging
, 21
(1)
, Article 128. 10.1186/s12880-021-00658-5.
|
|
|
Singh, Bhagteshwar;
Lant, Suzannah;
Cividini, Sofia;
Cattrall, Jonathan WS;
Goodwin, Lynsey C;
Benjamin, Laura;
Michael, Benedict D;
... Solomon, Tom; + view all
(2022)
Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis.
PLoS One
, 17
(6)
, Article e0263595. 10.1371/journal.pone.0263595.
|
|
Singh, G;
Sharma, M;
Krishnan, A;
Dua, T;
d'Aniello, F;
Manzoni, S;
Sander, JW;
(2020)
Models of community-based primary care for epilepsy in low- and middle-income countries.
Neurology
, 94
(4)
pp. 165-175.
10.1212/WNL.0000000000008839.
|
|
Singh, R;
Eaton, SJ;
Roebuck, D;
Barnacle, A;
Chippington, S;
Cross, K;
De Coppi, P;
(2018)
Surgical jejunostomy and radiological gastro-jejunostomy feeding in children: Risks, benefits and nutritional outcomes.
Pediatric Surgery International
, 34
(9)
pp. 951-956.
10.1007/s00383-018-4303-8.
|
|
|
Singhal, A;
(2019)
The Impact of Human Milk Feeding on Long-Term Risk of Obesity and Cardiovascular Disease.
Breastfeeding Medicine
, 14
, Article S1. 10.1089/bfm.2019.0037.
|
|
|
Siranosian, Jennifer;
Lewis, Celine;
Hill, Melissa;
Ormond, Kelly E;
(2023)
Exploring prenatal testing preferences among US pregnant individuals: A discrete choice experiment.
Journal of Genetic Counseling
10.1002/jgc4.1777.
(In press).
|
|
Siva, Naren;
Ward, Joseph Lloyd;
Goddings, Anne-Lise;
(2024)
Paediatric inpatient services for adolescents in England.
Archives of Disease in Childhood
, 109
(9)
pp. 777-778.
10.1136/archdischild-2024-327132.
|
|
Sivananthan, Siyamini;
Lee, Laura;
Anderson, Glenn;
Csanyi, Barbara;
Williams, Ruth;
Gissen, Paul;
(2023)
Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
Brain Sciences
, 13
(2)
, Article 209. 10.3390/brainsci13020209.
|
|
Sivaraj, Jayaram;
Loukogeorgakis, Stavros;
Costigan, Fiona;
Giuliani, Stefano;
Mullassery, Dhanya;
Blackburn, Simon;
Curry, Joe;
... De Coppi, Paolo; + view all
(2022)
Maintaining a minimally invasive surgical service during a pandemic.
Pediatric Surgery International
, 38
pp. 769-775.
10.1007/s00383-022-05107-0.
|
|
Sivathasan, S;
Mears, A;
Sebire, N;
Johal, N;
(2020)
Symptomatic scrotoliths in a child.
British Journal of Hospital Medicine
, 81
(3)
10.12968/hmed.2019.0394.
|
|
|
Six, E;
Guilloux, A;
Denis, A;
Lecoules, A;
Magnani, A;
Vilette, R;
Male, F;
... Bushman, F; + view all
(2020)
Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs.
Blood
, 135
(15)
pp. 1219-1231.
10.1182/blood.2019002350.
|
|
Skirrow, H;
Foley, K;
Bedford, H;
Lewis, C;
Whittaker, E;
Costelloe, C;
Saxena, S;
(2023)
Impact of pregnancy vaccine uptake and socio-demographic determinants on subsequent childhood Measles, Mumps and Rubella vaccine uptake: A UK birth cohort study.
Vaccine
10.1016/j.vaccine.2023.11.063.
(In press).
|
|
Skirrow, C;
Cross, JH;
Owens, R;
Weiss-Croft, L;
Martin-Sanfilippo, P;
Banks, T;
Shah, E;
... Baldeweg, T; + view all
(2019)
Determinants of IQ outcome after focal epilepsy surgery in childhood: A longitudinal case-control neuroimaging study.
Epilepsia
, 60
(5)
pp. 872-884.
10.1111/epi.14707.
|
|
Slatter, MA;
Rao, K;
Abd Hamid, IJ;
Nademi, Z;
Chiesa, R;
Elfeky, R;
Pearce, MS;
... Veys, P; + view all
(2018)
Treosulfan, Fludarabine Conditioning for HSCT in Children with Primary Immunodeficiency: UK Experience.
Biology of Blood and Marrow Transplantation
, 24
(3)
pp. 529-536.
10.1016/j.bbmt.2017.11.009.
|
|
Smith, E;
Sajida, R;
Ciurtin, C;
Armon, K;
Bailey, K;
Davidson, J;
Gardner, J;
... Hedrich, C; + view all
(2021)
Limited sensitivity and specificity of the ACR/EULAR-2019 classification criteria for SLE in JSLE?—observations from the UK JSLE Cohort Study.
Rheumatology
, 60
(11)
pp. 5271-5281.
10.1093/rheumatology/keab210.
|
|
Smith, EMD;
Aggarwal, A;
Ainsworth, J;
Al-Abadi, E;
Avcin, T;
Bortey, L;
Burnham, J;
... Beresford, MW; + view all
(2023)
PReS-endorsed International Childhood Lupus T2T Task Force definition of Childhood Lupus Low Disease Activity State (cLLDAS).
Clinical Immunology
, 250
, Article 109296. 10.1016/j.clim.2023.109296.
|
|
Smith, EMD;
Egbivwie, N;
Jorgensen, AL;
Ciurtin, C;
Al-Abadi, E;
Armon, K;
Bailey, K;
... Hedrich, CM; + view all
(2022)
Real world treatment of juvenile-onset systemic lupus erythematosus: Data from the UK JSLE cohort study.
Clinical Immunology
, 239
, Article 109028. 10.1016/j.clim.2022.109028.
|
|
Smith, Eve Mary Dorothy;
Aggarwal, Amita;
Ainsworth, Jenny;
Al-Abadi, Eslam;
Avcin, Tadej;
Bortey, Lynette;
Burnham, Jon;
... cSLE T2T, International Task Force; + view all
(2023)
Towards development of treat to target (T2T) in childhood-onset systemic lupus erythematosus: PReS-endorsed overarching principles and points-to-consider from an international task force.
Annals of the Rheumatic Diseases
10.1136/ard-2022-223328.
(In press).
|
|
Smith, E;
Al-Abadi, E;
Armon, K;
Bailey, K;
Ciurtin, C;
Davidson, J;
Gardner-Medwin, J;
... Hedrich, CM; + view all
(2019)
Outcomes following mycophenolate mofetil versus cyclophosphamide induction treatment for proliferative juvenile-onset lupus nephritis.
Lupus
, 28
(5)
pp. 613-620.
10.1177/0961203319836712.
|
|
Smits, A;
Annaert, P;
Cavallaro, G;
De Cock, PAJG;
de Wildt, SN;
Kindblom, JM;
Lagler, FB;
... Innovative Medicines Initiative conect4children (IMI c4c) Expert; + view all
(2021)
Current knowledge, challenges and innovations in developmental pharmacology: A combined conect4children Expert Group and European Society for Developmental, Perinatal and Paediatric Pharmacology White Paper.
British Journal of Clinical Pharmacology
10.1111/bcp.14958.
(In press).
|
|
|
Sobrino, S;
Magnani, A;
Semeraro, M;
Martignetti, L;
Cortal, A;
Denis, A;
Couzin, C;
... Six, E; + view all
(2023)
Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.
Cell Reports Medicine
, 4
(2)
, Article 100919. 10.1016/j.xcrm.2023.100919.
|
|
Sogbodjor, LA;
Razavi, C;
Williams, K;
Selman, A;
Pereira, SM Pinto;
Davenport, M;
Moonesinghe, SR;
(2024)
Risk factors for complications after emergency surgery for paediatric appendicitis: a national prospective observational cohort study.
Anaesthesia
10.1111/anae.16184.
(In press).
|
|
Sogbodjor, Lisa A;
Singleton, Georgina;
Davenport, Mark;
Walker, Suellen;
Moonesinghe, S Ramani;
(2022)
Quality metrics for emergency abdominal surgery in children: a systematic review.
British Journal of Anaesthesia
, 128
(3)
pp. 522-534.
10.1016/j.bja.2021.10.045.
|
|
Sohn, SY;
Krasnoff, L;
Rees, P;
Kalk, NJ;
Carter, B;
(2021)
The Association Between Smartphone Addiction and Sleep: A UK Cross-Sectional Study of Young Adults.
Frontiers in Psychiatry
, 12
10.3389/fpsyt.2021.629407.
|
|
|
Solans, BP;
Chiesa, R;
Doncheva, B;
Prunty, H;
Veys, P;
Trocóniz, IF;
Standing, JF;
(2020)
Modelling of neutrophil dynamics in children receiving busulfan or treosulfan for haematopoietic stem cell transplant conditioning.
British Journal of Clinical Pharmacology
, 86
(8)
pp. 1537-1549.
10.1111/bcp.14260.
|
|
Solebo, Ameenat;
Kellett, salomey;
Rahi, jugnoo;
Pattani, Reshma;
Edelsten, Clive;
Dick, Andrew;
Denniston, Alastair;
(2022)
Development of a nationally agreed core clinical dataset for childhood onset uveitis.
Frontiers in Pediatrics
, 10
, Article 881398. 10.3389/fped.2022.881398.
|
|
Solebo, Ameenat Lola;
Hysi, Pirro;
Horvat-Gitsels, Lisanne Andra;
Rahi, Jugnoo Sangeeta;
(2023)
Data saves lives: optimising routinely collected clinical data for rare disease research.
Orphanet Journal of Rare Diseases
, 18
, Article 285. 10.1186/s13023-023-02912-1.
|
|
Solebo, Ameenat Lola;
Rahi, Jugnoo Sangeeta;
(2023)
Delayed diagnosis of congenital cataract in preterm infants: Findings from the IoLunder2 cohort study.
PLOS ONE
, 18
(8)
, Article e0287658. 10.1371/journal.pone.0287658.
|
|
Solebo, Ameenat Lola;
Teoh, Lucinda;
Rahi, Jugnoo Sangeeta;
(2022)
The role of screening and surveillance in the detection of childhood vision impairment and blindness in the UK.
Archives of Disease in Childhood
10.1136/archdischild-2021-323470.
(In press).
|
|
Solebo, A;
Keane, P;
Rahi, J;
Barry, R;
Denniston, A;
(2019)
Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research.
Orphanet Journal of Rare Diseases
, 14
, Article 125. 10.1186/s13023-019-1108-3.
|
|
|
Solebo, AL;
Austin, A-M;
Theodorou, M;
Timms, C;
Hancox, J;
Adams, GGW;
(2018)
Botulinum toxin chemodenervation for childhood strabismus in England: National and local patterns of practice.
PLoS One
, 13
(6)
, Article e0199074. 10.1371/journal.pone.0199074.
|
|
|
Solebo, AL;
Cumberland, P;
Rahi, JS;
British Isles Congenital Cataract Interest Group;
(2018)
5-year outcomes after primary intraocular lens implantation in children aged 2 years or younger with congenital or infantile cataract: findings from the IoLunder2 prospective inception cohort study.
Lancet Child Adolesc Health
, 2
(12)
pp. 863-871.
10.1016/S2352-4642(18)30317-1.
|
|
Solebo, AL;
Hammond, CJ;
Rahi, JS;
(2018)
Improving outcomes in congenital cataract.
[Letter].
Nature
, 556
(7699)
E1-E2.
10.1038/nature26148.
|
|
Solebo, AL;
Rahi, J;
(2020)
Visual Axis Opacity after Intraocular Lens Implantation in Children in the First 2 Years of Life: Findings from the IoLunder2 Cohort Study.
Ophthalmology
, 127
(9)
pp. 1220-1226.
10.1016/j.ophtha.2020.02.038.
|
|
Solebo, AL;
Rahi, JS;
British Isles Congenital Cataract Interest Group;
(2019)
Intraocular lens implantation in children with cataract - Authors' reply.
[Letter].
Lancet Child Adolesc Health
, 3
(7)
, Article e8. 10.1016/S2352-4642(19)30153-1.
|
|
Solebo, AL;
Rahi, JS;
Dick, AD;
Ramanan, AV;
Ashworth, J;
Edelsten, C;
Members of the POIG Uveitis Delphi Group, .;
(2019)
Areas of agreement in the management of childhood non-infectious chronic anterior uveitis in the UK.
British Journal of Ophthalmology
10.1136/bjophthalmol-2018-313789.
(In press).
|
|
|
Solomou, G;
Murphy, S;
Bandyopadhyay, S;
Horsfall, HL;
Mohan, M;
Chari, A;
Sinha, S;
(2020)
Neurosurgery specialty training in the UK: What you need to know to be shortlisted for an interview.
Annals of Medicine and Surgery
, 57
pp. 287-290.
10.1016/j.amsu.2020.07.047.
|
|
|
Song, Huiling;
Li, Haosheng;
Shen, Xiaonan;
Liu, Kuai;
Feng, Haoran;
Cui, Jiahua;
Wei, Wei;
... Du, Zixiu; + view all
(2024)
A pH-responsive cetuximab-conjugated DMAKO-20 nano-delivery system for overcoming K-ras mutations and drug resistance in colorectal carcinoma.
Acta Biomaterialia
, 177
pp. 456-471.
10.1016/j.actbio.2024.01.047.
|
|
Soo, AKS;
Ferrini, A;
Kurian, MA;
(2021)
Precision medicine for genetic childhood movement disorders.
Developmental Medicine & Child Neurology
10.1111/dmcn.14869.
(In press).
|
|
|
Sookman, D;
Phillips, KA;
Anholt, GE;
Bhar, S;
Bream, V;
Challacombe, FL;
Coughtrey, A;
... Veale, D; + view all
(2021)
Knowledge and competency standards for specialized cognitive behavior therapy for adult obsessive-compulsive disorder.
Psychiatry Research
, 303
, Article 113752. 10.1016/j.psychres.2021.113752.
|
|
Soon, K;
Mason, R;
Martinez, AE;
Mellerio, JE;
(2020)
The psychological functioning of children with Epidermolysis Bullosa (EB) and its relationship with specific aspects of disease.
British Journal of Dermatology
, 182
(3)
pp. 789-790.
10.1111/bjd.18592.
|
|
Sophocleous, F;
Biffi, B;
Milano, EG;
Bruse, J;
Caputo, M;
Rajakaruna, C;
Schievano, S;
... Biglino, G; + view all
(2018)
Aortic morphological variability in patients with bicuspid aortic valve and aortic coarctation.
European Journal of Cardio-Thoracic Surgery
, Article ezy339. 10.1093/ejcts/ezy339.
|
|
|
Soponkanaporn, S;
Deakin, CT;
Schutz, PW;
Marshall, LR;
Yasin, SA;
Johnson, CM;
Sag, E;
... Jacques, TS; + view all
(2019)
Expression of myxovirus‐resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis.
Neuropathology and Applied Neurobiology
, 45
(4)
pp. 410-420.
10.1111/nan.12498.
|
|
|
Soria, LR;
Gurung, S;
De Sabbata, G;
Perocheau, D;
De Angelis, A;
Bruno, G;
Polishchuk, E;
... Brunetti-Pierri, N; + view all
(2020)
Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders.
EMBO Molecular Medicine
, Article e13158. 10.15252/emmm.202013158.
|
|
|
Sourbron, Jo;
Auvin, Stéphane;
Arzimanoglou, Alexis;
Cross, J Helen;
Hartmann, Hans;
Pressler, Ronit;
Riney, Kate;
... Lagae, Lieven; + view all
(2022)
Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications Survey Report of ILAE Task Force Medical Therapies in Children.
Epilepsia Open
10.1002/epi4.12666.
(In press).
|
|
Sowden, JC;
Kros, CJ;
Sirimanna, T;
Pagarkar, W;
Oluonye, N;
Henderson, RH;
(2020)
Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care.
BMJ Paediatrics Open
, 4
(1)
, Article e000781. 10.1136/bmjpo-2020-000781.
|
|
|
Soyer, Tutku;
Dariel, Anne;
Dingemann, Jens;
Martinez, Leopoldo;
Pini-Prato, Alessio;
Morini, Francesco;
De Coppi, Paolo;
... Hall, Nigel J; + view all
(2022)
European Pediatric Surgeons' Association Survey on the Management of Primary Spontaneous Pneumothorax in Children.
European Journal of Pediatric Surgery
, 32
(05)
pp. 415-421.
10.1055/s-0041-1739420.
|
|
|
Spaull, Robert;
Steel, Dora;
Barwick, Katy;
Prabhakar, Prab;
Wakeling, Emma;
Kurian, Manju A;
(2022)
STXBP1 stop‐loss mutation associated with complex early onset movement disorder without epilepsy.
Movement Disorders Clinical Practice
10.1002/mdc3.13509.
(In press).
|
|
Specchio, Nicola;
Wirrell, Elaine C;
Scheffer, Ingrid E;
Nabbout, Rima;
Riney, Kate;
Samia, Pauline;
Guerreiro, Marilisa;
... Auvin, Stéphane; + view all
(2022)
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.
Epilepsia
10.1111/epi.17241.
(In press).
|
|
Speckmann, C;
Nennstiel, U;
Hönig, M;
Albert, MH;
Ghosh, S;
Schuetz, C;
Brockow, I;
... Hauck, F; + view all
(2023)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Journal of Clinical Immunology
10.1007/s10875-023-01450-6.
(In press).
|
|
Spicer, C;
Lu, C-H;
Catapano, F;
Scoto, M;
Zaharieva, I;
Malaspina, A;
Morgan, JE;
... Zhou, H; + view all
(2021)
The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy.
Annals of Clinical and Translational Neurology
10.1002/acn3.51336.
(In press).
|
|
|
Spiewak, Justyna;
Doykov, Ivan;
Papandreou, Apostolos;
Hällqvist, Jenny;
Mills, Philippa;
Clayton, Peter T;
Gissen, Paul;
... Heywood, Wendy E; + view all
(2023)
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
International Journal of Molecular Sciences
, 24
(12)
, Article 10177. 10.3390/ijms241210177.
|
|
Spitzer, Hannah;
Ripart, Mathilde;
Whitaker, Kirstie;
D'Arco, Felice;
Mankad, Kshitij;
Chen, Andrew A;
Napolitano, Antonio;
... Wagstyl, Konrad; + view all
(2022)
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study.
Brain
, 145
(11)
pp. 3859-3871.
10.1093/brain/awac224.
|
|
Spyridakou, Chrysa;
Chan, John;
Tan, Jaclyn;
Clement, Emma;
Nash, Robert;
Hall, Amanda;
Mehta, Nishchay;
(2024)
Preparing for Otoferlin gene therapy trials: A survey of NHS Paediatric Audiology and Cochlear Implant services on diagnosis and management of Auditory Neuropathy Spectrum Disorder.
International Journal of Pediatric Otorhinolaryngology
, 177
, Article 111870. 10.1016/j.ijporl.2024.111870.
|
|
Stacey, A;
Toolis, C;
Ganesan, V;
(2018)
Rates and Risk Factors for Arterial Ischemic Stroke Recurrence in Children.
Stroke
, 49
(4)
pp. 842-847.
10.1161/STROKEAHA.117.020159.
|
|
Stacey, AW;
Clarke, B;
Moraitis, C;
Fabian, ID;
Smith, V;
Sagoo, MS;
Reddy, MA;
(2019)
The Incidence of Binocular Visual Impairment and Blindness in Children with Bilateral Retinoblastoma.
Ocular Oncology and Pathology
, 5
(1)
pp. 1-7.
10.1159/000489313.
|
|
Stamberger, H;
Hammer, TB;
Gardella, E;
Vlaskamp, DRM;
Bertelsen, B;
Mandelstam, S;
de Lange, I;
... Scheffer, IE; + view all
(2021)
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genetics in Medicine
10.1038/s41436-020-00988-9.
|
|
Standing, Joseph F;
Agyeman, Akosua Adom;
(2022)
Learning and confirming in publicly funded antiviral trials.
Lancet Infectious Diseases
10.1016/S1473-3099(22)00665-X.
(In press).
|
|
Standing, Joseph F;
Buggiotti, Laura;
Guerra-Assuncao, Jose Afonso;
Woodall, Maximillian;
Ellis, Samuel;
Agyeman, Akosua A;
Miller, Charles;
... PANORAMIC Virology Group; + view all
(2024)
Randomized controlled trial of molnupiravir SARS-CoV-2 viral and antibody response in at-risk adult outpatients.
Nature Communications
, 15
, Article 1652. 10.1038/s41467-024-45641-0.
|
|
Stankunaite, R;
George, SL;
Gallagher, L;
Jamal, S;
Shaikh, R;
Yuan, L;
Hughes, D;
... Hubank, M; + view all
(2021)
Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours.
European Journal of Cancer
10.1016/j.ejca.2021.09.042.
|
|
|
Stavrinos, G;
Iliadou, V-M;
Edwards, L;
Sirimanna, T;
Bamiou, D-E;
(2018)
The Relationship between Types of Attention and Auditory Processing Skills: Reconsidering Auditory Processing Disorder Diagnosis.
Frontiers in Psychology
, 9
, Article 34. 10.3389/fpsyg.2018.00034.
|
|
|
Steeden, JA;
Kowalik, GT;
Tann, O;
Hughes, M;
Mortensen, KH;
Muthurangu, V;
(2018)
Real-time assessment of right and left ventricular volumes and function in children using high spatiotemporal resolution spiral bSSFP with compressed sensing.
Journal of Cardiovascular Magnetic Resonance
, 20
, Article 79. 10.1186/s12968-018-0500-9.
|
|
|
Steeden, JA;
Quail, M;
Gotschy, A;
Mortensen, KH;
Hauptmann, A;
Arridge, S;
Jones, R;
(2020)
Rapid whole-heart CMR with single volume super-resolution.
Journal of Cardiovascular Magnetic Resonance
, 22
(1)
, Article 56. 10.1186/s12968-020-00651-x.
|
|
|
Steel, D;
Kurian, MA;
(2020)
Recent genetic advances in early-onset dystonia.
Current Opinion in Neurology
, 33
(4)
pp. 500-507.
10.1097/WCO.0000000000000831.
|
|
Steel, DBD;
Danti, FR;
Abunada, M;
Kamien, B;
Malhotra, S;
Topf, M;
Kaliakatsos, M;
... Kurian, MA; + view all
(2023)
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Neurology
, 100
(21)
e2214-e2223.
10.1212/WNL.0000000000207241.
|
|
|
Steel, Dora;
Vezyroglou, Aikaterini;
Barwick, Katy;
Smith, Martin;
Vogt, Julie;
Gibbon, Frances M;
Cross, J Helen;
(2022)
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Movement Disorders
10.1002/mds.29250.
(In press).
|
|
Steel, D;
Heim, J;
Kruer, MC;
Sanchis-Juan, A;
Raymond, LF;
Eunson, P;
Kurian, MA;
(2020)
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
Movement Disorders
, 35
(2)
pp. 372-373.
10.1002/mds.27981.
|
|
Steel, D;
Zech, M;
Zhao, C;
Barwick, KE;
Burke, D;
Demailly, D;
Kumar, KR;
... Winkelmann, J; + view all
(2020)
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.
Annals of Neurology
, 88
(5)
pp. 867-877.
10.1002/ana.25879.
|
|
|
Steinbrenner, Mirja;
McDowell, Amy;
Centeno, Maria;
Moeller, Friederike;
Perani, Suejen;
Lorio, Sara;
Maziero, Danilo;
(2023)
Camera-based Prospective Motion Correction in Paediatric Epilepsy Patients Enables EEG-fMRI Localization Even in High-motion States.
Brain Topography
10.1007/s10548-023-00945-0.
(In press).
|
|
Stephenson, Terence;
(2024)
History of the regulation of the medical profession in Britain.
Archives of Disease in Childhood
10.1136/archdischild-2023-326794.
(In press).
|
|
Stevenson, AG;
Tooke, L;
Edwards, EM;
Mangiza, M;
Horn, D;
Heys, M;
Chimhuya, S;
... Abayneh, M; + view all
(2021)
The use of data in resource limited settings to improve quality of care.
Seminars in Fetal and Neonatal Medicine
10.1016/j.siny.2021.101204.
(In press).
|
|
|
Steward, CA;
Roovers, J;
Suner, M-M;
Gonzalez, JM;
Uszczynska-Ratajczak, B;
Pervouchine, D;
Fitzgerald, S;
... Frankish, A; + view all
(2019)
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
npj Genomic Medicine
, 4
, Article 31. 10.1038/s41525-019-0106-7.
|
|
|
Stewart, A;
Smith, C;
Eaton, S;
De Coppi, P;
Wray, J;
(2021)
The COVID-19 pandemic experiences of parents caring for children with oesophageal atresia/tracheo-oesophageal fistula.
BMJ Paediatrics Open
, 5
(1)
, Article e001077. 10.1136/bmjpo-2021-001077.
|
|
|
Stewart, Alexandra;
Smith, Christina H;
Govender, Roganie;
Eaton, Simon;
De Coppi, Paolo;
Wray, Jo;
(2023)
Qualitative research: a different option on the menu.
Journal of Pediatric Surgery
, 58
(4)
pp. 782-783.
10.1016/j.jpedsurg.2022.11.004.
|
|
Stewart, Alexandra;
Smith, Christina H;
Govender, Roganie;
Eaton, Simon;
De Coppi, Paolo;
Wray, Jo;
(2022)
Parents’ experiences of feeding children born with oesophageal atresia/tracheo-oesophageal fistula.
Journal of Pediatric Surgery
10.1016/j.jpedsurg.2022.08.013.
(In press).
|
|
Stewart, BJ;
Ferdinand, JR;
Young, MD;
Mitchell, TJ;
Laudon, KW;
Riding, AM;
Richoz, N;
... Clatworthy, MR; + view all
(2019)
Spatiotemporal immune zonation of the human kidney.
Science
, 365
(6460)
pp. 1461-1466.
10.1126/science.aat5031.
|
|
|
Stewart, D;
Iancu, D;
Ashton, E;
Courtney, A;
Connor, A;
Walsh, SB;
(2018)
Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report.
American Journal of Kidney Diseases
10.1053/j.ajkd.2018.06.030.
(In press).
|
|
Stiles, CE;
Thursaisingham, R;
Bockenhauer, D;
Platts, L;
Kumar, A;
Korbonits, M;
(2018)
De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
Endocrinology, Diabetes and Metabolism Case Reports
, 2018
(1)
10.1530/EDM-17-0120.
|
|
Stimpson, Georgia;
Raquq, Sarah;
Chesshyre, Mary;
Fewtrell, Mary;
Ridout, Deborah;
Sarkozy, Anna;
Manzur, Adnan;
... NorthStar Network; + view all
(2022)
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
Orphanet Journal of Rare Diseases
, 17
, Article 20. 10.1186/s13023-021-02158-9.
|
|
|
Stirnemann, JJ;
Besson, R;
Spaggiari, E;
Rojo, S;
Loge, F;
Peyro-Saint-Paul, H;
Allassonniere, S;
... Ville, Y; + view all
(2023)
Development and clinical validation of real-time artificial intelligence diagnostic companion for fetal ultrasound examination.
Ultrasound in Obstetrics and Gynecology
, 62
(3)
pp. 353-360.
10.1002/uog.26242.
|
|
Stirrup, O;
Boshier, F;
Venturini, C;
Guerra-Assunção, JA;
Alcolea-Medina, A;
Beckett, A;
Charalampous, T;
... Breuer, J; + view all
(2021)
SARS-CoV-2 lineage B.1.1.7 is associated with greater disease severity among hospitalised women but not men: multicentre cohort study.
BMJ Open Respiratory Research
, 8
(1)
, Article e001029. 10.1136/bmjresp-2021-001029.
|
|
|
Stogiannos, N;
Pavlopoulou, G;
Papadopoulos, C;
Walsh, G;
Potts, B;
Moqbel, S;
Gkaravella, A;
... Malamateniou, C; + view all
(2023)
Strategies to improve the magnetic resonance imaging experience for autistic individuals: a cross-sectional study exploring parents and carers’ experiences.
BMC Health Services Research
, 23
, Article 1375. 10.1186/s12913-023-10333-w.
|
|
Stogiannos, Nikos;
Harvey-Lloyd, Jane;
Brammer, Andrea;
Cleaver, Karen;
McNulty, Jonathan P;
Sá dos Reis, Cláudia;
Pavlopoulou, Georgia;
... Malamateniou, Christina; + view all
(2023)
Toward Autism-Friendly Magnetic Resonance Imaging: Exploring Autistic Individuals' Experiences of Magnetic Resonance Imaging Scans in the United Kingdom, a Cross-Sectional Survey.
Autism in Adulthood
10.1089/aut.2022.0051.
(In press).
|
|
Stone, TJ;
Rowell, R;
Jayasekera, BAP;
Cunningham, MO;
Jacques, TS;
(2018)
Molecular characteristics of long-term epilepsy-associated tumours (LEATs) and mechanisms for tumour-related epilepsy (TRE).
Neuropathology and Applied Neurobiology
, 44
(1)
pp. 56-69.
10.1111/nan.12459.
|
|
Storey, Nathaniel;
Brown, Julianne R;
Pereira, Rui PA;
O'Sullivan, Denise M;
Huggett, Jim F;
Williams, Rachel;
Breuer, Judith;
(2021)
Single base mutations in the nucleocapsid gene of SARS-CoV-2 affects amplification efficiency of sequence variants and may lead to assay failure.
Journal of Clinical Virology Plus
, 1
(3)
, Article 100037. 10.1016/j.jcvp.2021.100037.
|
|
|
Stotesbury, Hanne;
Hales, Patrick W;
Hood, Anna M;
Koelbel, Melanie;
Kawadler, Jamie M;
Saunders, Dawn E;
Sahota, Sati;
... Kirkham, Fenella J; + view all
(2022)
Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study.
Frontiers in Physiology
, 13
, Article 865391. 10.3389/fphys.2022.865391.
|
|
Stotesbury, H;
Kawadler, JM;
Hales, PW;
Saunders, DE;
Clark, CA;
Kirkham, FJ;
(2019)
Vascular Instability and Neurological Morbidity in Sickle Cell Disease: An Integrative Framework.
Frontiers in Neurology
, 10
, Article 871. 10.3389/fneur.2019.00871.
|
|
Stotesbury, H;
Kirkham, F;
Koelbel, M;
Balfour, P;
Clayden, J;
Sahota, S;
Sarkaria, S;
... Kawadler, J; + view all
(2018)
White Matter Integrity and Processing Speed in Sickle Cell Anemia.
Neurology
, 90
(23)
e2042-e2050.
10.1212/WNL.0000000000005644.
|
|
|
Straathof, K;
Flutter, B;
Wallace, R;
Jain, N;
Loka, T;
Depani, S;
Wright, G;
... Anderson, J; + view all
(2020)
Anti-tumor activity without on-target off-tumor toxicity of GD2-Chimeric Antigen Receptor T cells in patients with neuroblastoma.
Science Translational Medicine
, 12
(571)
, Article eabd6169. 10.1126/scitranslmed.abd6169.
|
|
Strano, A;
Tuck, E;
Stubbs, VE;
Livesey, FJ;
(2020)
Variable Outcomes in Neural Differentiation of Human PSCs Arise from Intrinsic Differences in Developmental Signaling Pathways.
Cell Reports
, 31
(10)
, Article 107732. 10.1016/j.celrep.2020.107732.
|
|
|
Strauss, Kevin A;
Farrar, Michelle A;
Muntoni, Francesco;
Saito, Kayoko;
Mendell, Jerry R;
Servais, Laurent;
McMillan, Hugh J;
... Macek, Thomas A; + view all
(2022)
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
Nature Medicine
10.1038/s41591-022-01866-4.
(In press).
|
|
Strauss, Kevin A;
Farrar, Michelle A;
Muntoni, Francesco;
Saito, Kayoko;
Mendell, Jerry R;
Servais, Laurent;
McMillan, Hugh J;
... Macek, Thomas A; + view all
(2022)
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.
Nature Medicine
10.1038/s41591-022-01867-3.
(In press).
|
|
Stricker, PA;
de Graaff, JC;
Vutskits, L;
Muhly, WT;
Xu, T;
Torborg, AM;
Jiang, Y;
... Pediatric Perioperative Outcomes Group, .; + view all
(2018)
Pediatric perioperative outcomes group: Defining core outcomes for pediatric anesthesia and perioperative medicine.
Pediatric Anesthesia
, 28
(4)
pp. 314-315.
10.1111/pan.13354.
|
|
Sturm, Gabriel;
Karan, Kalpita R;
Monzel, Anna S;
Santhanam, Balaji;
Taivassalo, Tanja;
Bris, Céline;
Ware, Sarah A;
... Picard, Martin; + view all
(2023)
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Communications Biology
, 6
, Article 22. 10.1038/s42003-022-04303-x.
|
|
Suff, N;
Karda, R;
Antinao Diaz, J;
Ng, J;
Baruteau, J;
Perocheau, D;
Tangney, M;
... Waddington, SN; + view all
(2018)
Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth and Neonatal Brain Injury in Pregnant Mice.
American Journal of Pathology
, 188
(10)
pp. 2164-2176.
10.1016/j.ajpath.2018.06.016.
|
|
|
Suff, N;
Rajvinder, K;
Diaz, A;
Ng, J;
Baruteau, J;
Perocheau, D;
Taylor, P;
... Peebles, DM; + view all
(2020)
Cervical gene delivery of the antimicrobial peptide, Human β‐defensin (HBD)-3, in a mouse model of ascending infection-related preterm birth.
Frontiers in Immunology
, 11
, Article 106. 10.3389/fimmu.2020.00106.
|
|
Sumner, Emma J;
Almeida, Beverley;
Palman, Jason;
Bale, Peter;
Heard, Clare;
Holzinger, Dirk;
Roth, Johannes;
... Ralph, Elizabeth; + view all
(2022)
Use of MRP8/14 in clinical practice as a predictor of outcome after methotrexate withdrawal in patients with juvenile idiopathic arthritis.
Clinical Rheumatology
10.1007/s10067-022-06165-4.
(In press).
|
|
Suntharalingham, Jenifer P;
Ishida, Miho;
Del Valle, Ignacio;
Stalman, Susanne E;
Solanky, Nita;
Wakeling, Emma;
Moore, Gudrun E;
... Buonocore, Federica; + view all
(2022)
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Frontiers in Endocrinology
, 13
, Article 953707. 10.3389/fendo.2022.953707.
|
|
Suply, E;
Rees, C;
Cross, K;
Elagami, H;
Blackburn, S;
Giuliani, S;
D'Souza, R;
... De Coppi, P; + view all
(2020)
Patch repair of congenital diaphragmatic hernia is not at risk of poor outcomes.
Journal of Pediatric Surgery
, 55
(8)
pp. 1522-1527.
10.1016/j.jpedsurg.2019.10.021.
|
|
Surana, S;
Rossor, T;
Hassell, J;
Boyd, S;
D'Arco, F;
Aylett, S;
Bhate, S;
... Hacohen, Y; + view all
(2020)
Diagnostic algorithm for children presenting with epilepsia partialis continua.
Epilepsia
, 61
(10)
pp. 2224-2233.
10.1111/epi.16650.
|
|
Surana, S;
Kumar, R;
Pitt, M;
Hafner, P;
Mclellan, A;
Davidson, J;
Prabakhar, P;
... Wright, S; + view all
(2019)
Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies.
Developmental Medicine & Child Neurology
, 61
(1)
pp. 1344-1347.
10.1111/dmcn.14179.
|
|
Surey, J;
Stagg, HR;
Yates, TA;
Lipman, M;
White, PJ;
Charlett, A;
Muñoz, L;
... Abubakar, I; + view all
(2021)
An open label, randomised controlled trial of rifapentine versus rifampicin based short course regimens for the treatment of latent tuberculosis in England: the HALT LTBI pilot study.
BMC Infectious Diseases
, 21
, Article 90. 10.1186/s12879-021-05766-9.
|
|
|
Sutton, Liam;
Maughan, Elizabeth;
Pianosi, Kiersten;
Jama, Guled;
Rouhani, Maral J;
Hewitt, Richard;
Muthialu, Nagarajan;
... De Coppi, Paolo; + view all
(2024)
Open and Thoracoscopic Aortopexy for Airway Malacia in Children: 15 Year Single Centre Experience.
Journal of Pediatric Surgery
, 59
(2)
pp. 197-201.
10.1016/j.jpedsurg.2023.10.016.
|
|
Svedberg, Marcus;
Imberg, Henrik;
Gustafsson, Per Magnus;
Tiddens, Harm;
Davies, Gwyneth;
Lindblad, Anders;
(2022)
Longitudinal lung clearance index and association with structural lung damage in children with cystic fibrosis.
Thorax
10.1136/thoraxjnl-2021-218178.
(In press).
|
|
Syeda, Safoora B;
Lone, Museer A;
Mohassel, Payam;
Donkervoort, Sandra;
Munot, Pinki;
França, Marcondes C;
Galarza-Brito, Juan Eli;
... Bönnemann, Carsten G; + view all
(2023)
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2023-332132.
(In press).
|
|
Szychot, E;
Seunarine, K;
Robles, C;
Mandeville, H;
Mankad, K;
Clark, C;
Peregud-Pogorzelski, J;
(2020)
Estimating brain volume loss after radiation therapy in children treated for posterior fossa tumors (Corpus callosum and whole brain volume changes following radiotherapy in children).
Advances in Clinical and Experimental Medicine
, 29
(3)
10.17219/acem/114827.
|
|
T
|
Tadić, V;
Robertson, AO;
Cortina-Borja, M;
Rahi, JS;
(2020)
An Age- and Stage-Appropriate Patient-Reported Outcome Measure of Vision-Related Quality of Life of Children and Young People with Visual Impairment.
Ophthalmology
, 127
(2)
pp. 249-260.
10.1016/j.ophtha.2019.08.033.
|
|
Tagalakis, A;
Jayarajan, V;
Maeshima, R;
Ho, K;
Syed, F;
Wu, L-P;
M. Aldossary, A;
... Hart, S; + view all
(2021)
Integrin-Targeted, Short Interfering RNA Nanocomplexes for Neuroblastoma Tumor-Specific Delivery Achieve MYCN Silencing with Improved Survival.
Advanced Functional Materials
10.1002/adfm.202104843.
(In press).
|
|
|
Talbot, J;
Singh, P;
Puvirajasinghe, C;
Sisodiya, SM;
Rugg-Gunn, F;
(2020)
Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association.
Epilepsy and Behavior Reports
, 14
, Article 100389. 10.1016/j.ebr.2020.100389.
|
|
|
Talenti, G;
Robson, C;
Severino, MS;
Alves, CA;
Chitayat, D;
Dahmoush, H;
Smith, L;
... D'Arco, F; + view all
(2021)
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in alpha-Dystroglycan-Related Muscular Disorders.
American Journal of Neuroradiology
, 42
(1)
pp. 167-172.
10.3174/ajnr.A6858.
|
|
|
Tam, LT;
Yeom, KW;
Wright, JN;
Jaju, A;
Radmanesh, A;
Han, M;
Toescu, S;
... Mattonen, SA; + view all
(2021)
MRI-based radiomics for prognosis of pediatric diffuse intrinsic pontine glioma: an international study.
Neuro-Oncoly Advances
, 3
(1)
, Article vdab042. 10.1093/noajnl/vdab042.
|
|
|
Tamaddon, M;
Blunn, G;
Xu, W;
Alemán Domínguez, ME;
Monzón, M;
Donaldson, J;
Skinner, J;
... Liu, C; + view all
(2021)
Sheep condyle model evaluation of bone marrow cell concentrate combined with a scaffold for repair of large osteochondral defects.
Bone & Joint Research
, 10
(10)
pp. 677-689.
10.1302/2046-3758.1010.BJR-2020-0504.R1.
|
|
Tan, AP;
Jacques, TS;
Mankad, K;
James, G;
Jeelani, O;
Slater, O;
D'Arco, F;
(2018)
Melanotic neuroectodermal tumour of infancy: A case report and differential diagnosis.
The Neuroradiology Journal
, 31
(4)
pp. 434-439.
10.1177/1971400917741770.
|
|
|
Tan, Y-W;
Banerjee, D;
Cross, KM;
De Coppi, P;
GOSH team;
Blackburn, SC;
Rees, CM;
... Eaton, S; + view all
(2018)
Morgagni hernia repair in children over two decades: Institutional experience, systematic review, and meta-analysis of 296 patients.
Journal of Pediatric Surgery
10.1016/j.jpedsurg.2018.04.009.
(In press).
|
|
|
Tatton-Brown, Katrina;
Seal, Sheila;
Ruark, Elise;
Harmer, Jenny;
Ramsay, Emma;
Del Vecchio Duarte, Silvana;
Zachariou, Anna;
... Rahman, Nazneen; + view all
(2014)
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Nature Genetics
, 46
(4)
pp. 385-388.
10.1038/Fng.2917.
|
|
Taylor, AM;
(2021)
The role of artificial intelligence in paediatric cardiovascular magnetic resonance imaging.
Pediatric Radiology
10.1007/s00247-021-05218-1.
(In press).
|
|
|
Taylor, Rachel M;
Whelan, Jeremy S;
Barber, Julie A;
Alvarez-Galvez, Javier;
Feltbower, Richard G;
Gibson, Faith;
Stark, Dan P;
(2024)
The Impact of Specialist Care on Teenage and Young Adult Patient-Reported Outcomes in England: A BRIGHTLIGHT Study.
Journal of Adolescent and Young Adult Oncology
10.1089/jayao.2023.0141.
(In press).
|
|
|
Taylor, RM;
Fern, LA;
Barber, J;
Alvarez-Galvez, J;
Feltbower, R;
Lea, S;
Martins, A;
... Whelan, J; + view all
(2020)
Longitudinal cohort study of the impact of specialist cancer services for teenagers and young adults on quality of life: outcomes from the BRIGHTLIGHT study.
BMJ Open
, 10
(11)
, Article e038471. 10.1136/bmjopen-2020-038471.
|
|
|
Taylor, RM;
Fern, LA;
Barber, J;
Alvarez-Galvez, J;
Feltbower, R;
Morris, S;
Hooker, L;
... Whelan, JS; + view all
(2019)
Description of the BRIGHTLIGHT cohort: the evaluation of teenage and young adult cancer services in England.
BMJ Open
, 9
(4)
, Article e027797. 10.1136/bmjopen-2018-027797.
|
|
|
Teachey, DT;
O'Connor, D;
(2020)
How I treat newly diagnosed T-cell acute lymphoblastic leukemia and T-cell lymphoblastic lymphoma in children.
Blood
, 135
(3)
pp. 159-166.
10.1182/blood.2019001557.
|
|
Tebani, A;
Sudrié-Arnaud, B;
Dabaj, I;
Torre, S;
Domitille, L;
Snanoudj, S;
Heron, B;
... Bekri, S; + view all
(2021)
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal of Medical Genetics
10.1136/jmedgenet-2020-107510.
(In press).
|
|
|
Tebruegge, M;
Curtis, N;
Clifford, V;
Fernandez-Turienzo, C;
Klein, N;
Fidler, K;
Mansour, S;
... Morris-Jones, S; + view all
(2018)
Seasonal variation in the performance of QuantiFERON-TB Gold In-Tube assays used for the diagnosis of tuberculosis infection.
Tuberculosis
, 110
pp. 26-29.
10.1016/j.tube.2018.03.002.
|
|
Teoh, LJ;
Solebo, AL;
Rahi, JS;
British Childhood Visual Impairment and Blindness Study Interest;
(2023)
Temporal trends in the epidemiology of childhood severe visual impairment and blindness in the UK.
British Journal of Ophthalmology
, 107
(5)
pp. 717-724.
10.1136/bjophthalmol-2021-320119.
|
|
|
Teoh, L;
Solebo, AL;
Rahi, J;
(2021)
Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study.
The Lancet Child & Adolescent Health
, 5
(3)
pp. 190-200.
10.1016/S2352-4642(20)30366-7.
|
|
Testi, Ilaria;
Brandão-de-Resende, Camilo;
De-La-Torre, Alejandra;
Concha-Del-Rio, Luz Elena;
Cheja-Kalb, Rashel;
Mahendradas, Padmamalini;
Habot-Wilner, Zohar;
... Solebo, Ameenat Lola; + view all
(2023)
Ocular Inflammatory Events Following COVID-19 Vaccination in the Paediatric Population: A Multinational Case Series.
Ocular Immunology and Inflammation
10.1080/09273948.2023.2220782.
(In press).
|
|
Testi, Ilaria;
Soomro, Taha;
Pavesio, Carlos;
Solebo, Ameenat Lola;
(2023)
Ocular inflammatory events following COVID-19 vaccination: reporting of suspected adverse drug reactions to regulatory authorities in the UK.
British Journal of Ophthalmology
10.1136/bjo-2023-324503.
(In press).
|
|
Thakkar, H;
Mullassery, DM;
Giuliani, S;
Blackburn, S;
Cross, K;
Curry, J;
De Coppi, Paolo;
(2021)
Thoracoscopic oesophageal atresia/tracheo-oesophageal fistula (OA/TOF) repair is associated with a higher stricture rate: a single institution’s experience.
Pediatric Surgery International
, 37
pp. 397-401.
10.1007/s00383-020-04829-3.
|
|
|
Thakkar, HS;
Hewitt, R;
Cross, K;
Hannon, E;
De Bie, F;
Blackburn, S;
Eaton, S;
... De Coppi, P; + view all
(2019)
The multi-disciplinary management of complex congenital and acquired tracheo-oesophageal fistulae.
Pediatric Surgery International
, 35
(1)
pp. 97-105.
10.1007/s00383-018-4380-8.
|
|
|
Thapar, N;
Borrelli, O;
(2018)
Anorectal Manometry for the Diagnosis of Hirschsprung Disease: New Heights for the Balloon or Just Hot Air?
Journal of Pediatric Gastroenterology and Nutrition
10.1097/MPG.0000000000002076.
(In press).
|
|
Thapar, N;
Saliakellis, E;
Benninga, MA;
Borrelli, O;
Curry, J;
Faure, C;
De Giorgio, R;
... Di Lorenzo, C; + view all
(2018)
Paediatric Intestinal Pseudo-Obstruction: Evidence and Consensus-Based Recommendations from an ESPGHAN-Led Expert Group.
Journal of Pediatric Gastroenterology and Nutrition
, 66
(6)
pp. 991-1019.
10.1097/MPG.0000000000001982.
|
|
Thaventhiran, JED;
Lango Allen, H;
Burren, OS;
Rae, W;
Greene, D;
Staples, E;
Zhang, Z;
... Smith, KGC; + view all
(2020)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
, 583
pp. 90-95.
10.1038/s41586-020-2265-1.
|
|
Thayyil, S;
Pant, S;
Montaldo, P;
Shukla, D;
Oliveira, V;
Ivain, P;
Bassett, P;
... Shankaran, S; + view all
(2021)
Hypothermia for moderate or severe neonatal encephalopathy in low-income and middle-income countries (HELIX): a randomised controlled trial in India, Sri Lanka, and Bangladesh.
The Lancet Global Health
, 9
(9)
e1273-e1285.
10.1016/S2214-109X(21)00264-3.
|
|
|
The European Pregnancy and Paediatric HIV Cohort Collaboration, .;
(2019)
Nucleoside reverse transcriptase inhibitor backbones and pregnancy outcomes.
AIDS
, 33
(2)
pp. 295-304.
10.1097/QAD.0000000000002039.
|
|
Themistocleous, Andreas C;
Baskozos, Georgios;
Blesneac, Iulia;
Comini, Maddalena;
Megy, Karyn;
Chong, Sam;
Deevi, Sri VV;
... Bennett, David LH; + view all
(2023)
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Brain Commun
, 5
(2)
, Article fcad037. 10.1093/braincomms/fcad037.
|
|
Thi, TMN;
Murakami, Y;
Mobilio, S;
Niceta, M;
Zampino, G;
Philippe, C;
Moutton, S;
... Campeau, PM; + view all
(2020)
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
The American Journal of Human Genetics
, 106
(4)
pp. 484-495.
10.1016/j.ajhg.2020.03.001.
|
|
Tho-Calvi, S;
Thompson, D;
Saunders, D;
Agrawal, S;
Basu, A;
Chitre, M;
Chow, G;
... Ganesan, V; + view all
(2018)
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.
Neurology
, 90
(9)
e763-e767.
10.1212/WNL.0000000000005026.
|
|
Thom, M;
Liu, J;
Bongaarts, A;
Reinten, RJ;
Paradiso, B;
Jäger, HR;
Reeves, C;
... Aronica, E; + view all
(2018)
Multinodular and vacuolating neuronal tumours in epilepsy: dysplasia or neoplasia?
Brain Pathology
, 28
(2)
pp. 155-171.
10.1111/bpa.12555.
|
|
Thomas, AC;
Heux, P;
Santos, C;
Arulvasan, W;
Solanky, N;
Carey, ME;
Gerrelli, D;
... Etchevers, HC; + view all
(2018)
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
Birth Defects Research
, 110
(5)
pp. 443-455.
10.1002/bdr2.1183.
|
|
|
Thomas, G;
Zarkali, A;
Ryten, M;
Shmueli, K;
Gil Martinez, A;
Leyland, L;
McColgan, P;
... Weil, R; + view all
(2021)
Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson’s disease.
Brain
, Article awab084. 10.1093/brain/awab084.
(In press).
|
|
|
Thompson, DA;
Handley, SE;
Henderson, RH;
Marmoy, OR;
Gisson, P;
(2021)
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.
Eye
10.1038/s41433-021-01594-y.
(In press).
|
|
|
Thöny, B;
Ng, J;
Kurian, MA;
Mills, P;
Martinez, A;
(2024)
Mouse models for inherited monoamine neurotransmitter disorders.
Journal of Inherited Metabolic Disease
10.1002/jimd.12710.
(In press).
|
|
Thorpe, N;
Harniess, P;
Main, E;
Hubert, N;
Rand, S;
Stephensen, D;
Liesner, R;
(2021)
Feasibility, safety and acceptability of select outcome measures in a physiotherapy study protocol for boys with haemophilia.
Pilot Feasibility Stud
, 7
(1)
, Article 105. 10.1186/s40814-021-00831-1.
|
|
|
Thrasher, A;
(2019)
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Journal of Experimental Medicine
, 216
(9)
, Article 1986. 10.1084/jem.20190344.
|
|
|
Thust, S;
Micallef, C;
Okuchi, S;
Brandner, S;
Kumar, A;
Mankad, K;
Wastling, S;
... Shankar, A; + view all
(2021)
Imaging characteristics of H3 K27M histone-mutant diffuse midline glioma in teenagers and adults.
Quantitative Imaging in Medicine and Surgery
, 11
(1)
pp. 43-56.
10.21037/QIMS-19-954.
|
|
|
Thyoka, M;
Adekunle, O;
Pilkington, C;
Walters, S;
Arthurs, OJ;
Humphries, P;
Johnson, K;
... Offiah, AC; + view all
(2018)
Introduction of a novel magnetic resonance imaging-based scoring system for assessing disease activity in children with juvenile dermatomyositis.
Rheumatology
, 57
(9)
pp. 1661-1668.
10.1093/rheumatology/key144.
|
|
|
Tierrablanca, LE;
Ochalek, J;
Ford, D;
Babiker, A;
Gibb, D;
Butler, K;
Turkova, A;
... BREATHER (PENTA 16) Trial Group; + view all
(2018)
Economic evaluation of weekends-off antiretroviral therapy for young people in 11 countries.
Medicine
, 97
(5)
, Article e9698. 10.1097/MD.0000000000009698.
|
|
|
Tieu, J;
Smith, R;
Basu, N;
Brogan, P;
D'Cruz, D;
Dhaun, N;
Flossmann, O;
... Jayne, DRW; + view all
(2020)
Rituximab for maintenance of remission in ANCA-associated vasculitis: expert consensus guidelines.
Rheumatology
, 59
(4)
e24-e32.
10.1093/rheumatology/kez640.
|
|
Tieu, J;
Smith, R;
Basu, N;
Brogan, P;
D'Cruz, D;
Dhaun, N;
Flossmann, O;
... Jayne, DRW; + view all
(2020)
Rituximab for maintenance of remission in ANCA-associated vasculitis: expert consensus guidelines—Executive summary.
Rheumatology
, 59
(4)
pp. 727-731.
10.1093/rheumatology/kez632.
|
|
Timsit, JF;
Citerio, G;
Lavilloniere, M;
Perner, A;
Ruckly, S;
Bakker, J;
Bassetti, M;
... Azoulay, E; + view all
(2019)
Determinants of downloads and citations for articles published in Intensive Care Medicine.
[Letter].
Intensive Care Medicine
, 45
pp. 1058-1060.
10.1007/s00134-019-05569-2.
|
|
Tizzano, Eduardo F;
Christie-Brown, Vanessa;
Baranello, Giovanni;
Germanenko, Olga;
Gray, Allyson;
Krstic, Marija;
Lilien, Charlotte;
... Scoto, Mariacristina; + view all
(2022)
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
Journal of Neuromuscular Diseases
, 9
(6)
pp. 809-820.
10.3233/JND-221538.
|
|
Toescu, Sebastian M;
Bruckert, Lisa;
Jabarkheel, Rashad;
Yecies, Derek;
Zhang, Michael;
Clark, Christopher A;
Mankad, Kshitij;
... Yeom, Kristen W; + view all
(2022)
Spatiotemporal changes in along-tract profilometry of cerebellar peduncles in cerebellar mutism syndrome.
NeuroImage: Clinical
, 35
, Article 103000. 10.1016/j.nicl.2022.103000.
|
|
Toescu, SM;
Hales, PW;
Kaden, E;
Lacerda, LM;
Aquilina, K;
Clark, CA;
(2021)
Tractographic and Microstructural Analysis of the Dentato-Rubro-Thalamo-Cortical Tracts in Children Using Diffusion MRI.
Cerebral Cortex
, 31
(5)
pp. 2595-2609.
10.1093/cercor/bhaa377.
|
|
Toescu, SM;
Aquilina, K;
(2019)
Current and Emerging Methods of Management of Ependymoma.
Current Oncology Reports
, 21
(9)
, Article 78. 10.1007/s11912-019-0826-y.
|
|
Toescu, SM;
Hales, PW;
Aquilina, K;
Clark, CA;
(2018)
Quantitative MRI in post-operative paediatric cerebellar mutism syndrome.
European Journal of Radiology
, 108
pp. 43-51.
10.1016/j.ejrad.2018.09.007.
|
|
Toescu, SM;
Hales, PW;
Tisdall, MM;
Aquilina, K;
Clark, CA;
(2020)
Neurosurgical applications of tractography in the UK.
British Journal of Neurosurgery
10.1080/02688697.2020.1849542.
(In press).
|
|
|
Toescu, SM;
Hettige, S;
Phipps, K;
Smith, RJP;
Haffenden, V;
Clark, C;
Hayward, R;
... Aquilina, K; + view all
(2018)
Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI.
Child's Nervous System
, 34
(11)
pp. 2249-2257.
10.1007/s00381-018-3867-x.
|
|
|
Toescu, SM;
James, G;
Phipps, K;
Jeelani, O;
Thompson, D;
Hayward, R;
Aquilina, K;
(2018)
Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution.
Neurosurgery
, 84
(3)
pp. 636-646.
10.1093/neuros/nyy081.
|
|
Tognini, Martina;
Hothi, Harry;
Tucker, Stewart;
Broomfield, Edel;
Shafafy, Masood;
Gikas, Panos;
Di Laura, Anna;
... Hart, Alister; + view all
(2022)
Blood titanium levels in patients with large and sliding titanium implants.
BMC Musculoskeletal Disorders
, 23
(1)
, Article 783. 10.1186/s12891-022-05717-8.
|
|
Tognini, M;
Hothi, H;
Dal Gal, E;
Shafafy, M;
Nnadi, C;
Tucker, S;
Henckel, J;
(2021)
Understanding the implant performance of magnetically controlled growing spine rods: a review article.
European Spine Journal
10.1007/s00586-021-06774-8.
(In press).
|
|
|
Tolonen, Jussi Pekka;
Parolin Schnekenberg, Ricardo;
McGowan, Simon;
Sims, David;
McEntagart, Meriel;
Elmslie, Frances;
Shears, Debbie;
... Németh, Andrea H; + view all
(2023)
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Movement Disorders
10.1002/mds.29651.
(In press).
|
|
Tomlinson, OW;
Denford, S;
Barker, AR;
Schneiderman, JE;
Campisi, ES;
Douglas, H;
Rand, S;
... Williams, CA; + view all
(2021)
The impact of physical activity and exercise interventions for physical health in people with cystic fibrosis: protocol for a systematic review.
Systematic Reviews
, 10
(1)
, Article 64. 10.1186/s13643-021-01614-8.
|
|
|
Toms, M;
Burgoyne, T;
Tracey-White, D;
Richardson, R;
Dubis, AM;
Webster, AR;
Futter, C;
(2019)
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.
Scientific Reports
, 9
, Article 3793. 10.1038/s41598-019-40507-8.
|
|
|
Toms, M;
Dubis, AM;
De Vrieze, E;
Tracey-White, D;
Mitsios, A;
Hayes, M;
Broekman, S;
... Moosajee, M; + view all
(2020)
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Human Molecular Genetics
10.1093/hmg/ddaa004.
(In press).
|
|
|
Toms, M;
Pagarkar, W;
Moosajee, M;
(2020)
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
Therapeutic Advances in Ophthalmology
, 12
pp. 1-19.
10.1177/2515841420952194.
|
|
|
Topal, Joseph;
Panchal, Neelam;
Barroeta, Amairelys;
Roppelt, Anna;
Mudde, Annelotte;
Gaspar, H Bobby;
Thrasher, Adrian J;
... Booth, Claire; + view all
(2023)
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency.
Journal of Clinical Immunology
, 43
(2)
pp. 440-451.
10.1007/s10875-022-01389-0.
|
|
Töpf, Ana;
Cox, Dan;
Zaharieva, Irina T;
Di Leo, Valeria;
Sarparanta, Jaakko;
Jonson, Per Harald;
Sealy, Ian M;
... Straub, Volker; + view all
(2024)
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nature Genetics
10.1038/s41588-023-01651-0.
(In press).
|
|
Topriceanu, C;
Moon, JC;
Hardy, R;
Hughes, AD;
Captur, G;
(2021)
Childhood Bradycardia Associates With Atrioventricular Conduction Defects in Older Age: A Longitudinal Birth Cohort Study.
Journal of the American Heart Association
, 10
(19)
10.1161/jaha.121.021877.
|
|
|
Topriceanu, Constantin-Cristian;
Field, Ella;
Boleti, Olga;
Cervi, Elena;
Kaski, Juan Pablo;
Norrish, Gabrielle;
(2022)
Disopyramide is a safe and effective treatment for children with obstructive hypertrophic cardiomyopathy.
International Journal of Cardiology
10.1016/j.ijcard.2022.09.044.
(In press).
|
|
Topriceanu, C-C;
Moon, JC;
Hardy, R;
Chaturvedi, N;
Hughes, AD;
Captur, G;
(2021)
Longitudinal birth cohort study finds that life-course frailty associates with later-life heart size and function.
Scientific Reports
, 11
, Article 6272. 10.1038/s41598-021-85435-8.
|
|
|
Torelli, S;
Scaglioni, D;
Sardone, V;
Ellis, MJ;
Domingos, J;
Jones, A;
Feng, L;
... Muntoni, F; + view all
(2021)
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Journal of Neuropathology & Experimental Neurology
, Article nlab088. 10.1093/jnen/nlab088.
(In press).
|
|
Toualbi, L;
Toms, M;
Moosajee, M;
(2020)
USH2A-retinopathy: From genetics to therapeutics.
Experimental Eye Research
, Article 108330. 10.1016/j.exer.2020.108330.
(In press).
|
|
|
Tranebjærg, L;
Strenzke, N;
Lindholm, S;
Rendtorff, ND;
Poulsen, H;
Khandelia, H;
Kopec, W;
... Bitner-Glindzicz, M; + view all
(2018)
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Human Genetics
, 137
(2)
pp. 111-127.
10.1007/s00439-017-1862-z.
|
|
Traub, RD;
Moeller, F;
Rosch, R;
Baldeweg, T;
Whittington, MA;
Hall, SP;
(2020)
Seizure initiation in infantile spasms vs. focal seizures: proposed common cellular mechanisms.
Reviews in the Neurosciences
, 31
(2)
pp. 181-200.
10.1515/revneuro-2019-0030.
|
|
Treger, TD;
Chagtai, T;
Butcher, R;
Cresswell, GD;
Al-Saadi, R;
Brok, J;
Williams, RD;
... Mifsud, W; + view all
(2018)
Somatic TP53 Mutations Are Detectable in Circulating Tumor DNA from Children with Anaplastic Wilms Tumors.
Translational Oncology
, 11
(6)
pp. 1301-1306.
10.1016/j.tranon.2018.08.006.
|
|
|
Treger, TD;
Chowdhury, T;
Pritchard-Jones, K;
Behjati, S;
(2019)
The genetic changes of Wilms tumour.
Nature Reviews Nephrology
, 15
pp. 240-251.
10.1038/s41581-019-0112-0.
|
|
Trepiccione, F;
Walsh, SB;
Ariceta, G;
Boyer, O;
Emma, F;
Camilla, R;
Ferraro, PM;
... Bockenhauer, D; + view all
(2021)
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Nephrology Dialysis Transplantation
, 36
(9)
pp. 1585-1596.
10.1093/ndt/gfab171.
|
|
Trotman, Jamie;
Armstrong, Ruth;
Firth, Helen;
Trayers, Claire;
Watkins, James;
Allinson, Kieren;
Jacques, Thomas S;
... Tarpey, Patrick; + view all
(2022)
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
British Journal of Cancer
, 127
pp. 137-144.
10.1038/s41416-022-01788-5.
|
|
Trucco, F;
Domingos, J;
Tay, CG;
Ridout, D;
Maresh, K;
Munot, P;
Sarkozy, A;
... Muntoni, F; + view all
(2020)
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
Chest
, 158
(4)
pp. 1606-1616.
10.1016/j.chest.2020.04.043.
|
|
Trucco, F;
Ridout, D;
Scoto, M;
Coratti, G;
Main, ML;
Lofra, RM;
Mayhew, AG;
... International SMA consortium (iSMAc); + view all
(2020)
Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study.
Neurology
10.1212/WNL.0000000000011051.
(In press).
|
|
|
Tschernoster, Nikolai;
Erger, Florian;
Kohl, Stefan;
Reusch, Björn;
Wenzel, Andrea;
Walsh, Stephen;
Thiele, Holger;
... Altmüller, Janine; + view all
(2023)
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Genome Medicine volume
, 15
, Article 62. 10.1186/s13073-023-01215-1.
|
|
Tsirka, A;
Liasis, A;
Kuczynski, A;
Vargha-Khadem, F;
Kukadia, R;
Dutton, G;
Bowman, R;
(2020)
Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies.
Developmental Medicine & Child Neurology
10.1111/dmcn.14650.
(In press).
|
|
|
Tsyklauri, O;
Niederlova, V;
Forsythe, E;
Prasai, A;
Drobek, A;
Kasparek, P;
Sparks, K;
... Stepanek, O; + view all
(2021)
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
EMBO Reports
, 3
(2)
, Article e50785. 10.15252/embr.202050785.
|
|
Tucker, Elena J;
Baker, Megan J;
Hock, Daniella H;
Warren, Julia T;
Jaillard, Sylvie;
Bell, Katrina M;
Sreenivasan, Rajini;
... Sinclair, Andrew H; + view all
(2022)
Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights.
Journal of Clinical Endocrinology and Metabolism
, 107
(12)
pp. 3328-3340.
10.1210/clinem/dgac528.
|
|
Tullie, Lucinda;
Jones, Brendan C;
De Coppi, Paolo;
Li, Vivian SW;
(2022)
Building gut from scratch — progress and update of intestinal tissue engineering.
Nature Reviews Gastroenterology & Hepatology
, 19
pp. 417-431.
10.1038/s41575-022-00586-x.
|
|
Tullie, L;
Ford, K;
Bisharat, M;
Watson, T;
Thakkar, H;
Mullassery, D;
Giuliani, S;
... Curry, J; + view all
(2020)
Gastrointestinal features in children with COVID-19: an observation of varied presentation in eight children.
The Lancet Child & Adolescent Health
, 4
(7)
E19-E20.
10.1016/S2352-4642(20)30165-6.
|
|
|
Tume, Lyvonne N;
Blackwood, Bronagh;
McAuley, Daniel F;
Morris, Kevin;
Peters, Mark J;
Jordan, Joanne;
Walsh, Timothy Simon;
(2022)
Using the TIDieR checklist to describe the intervention of the Sedation and Weaning in Children (SANDWICH) trial.
Nursing in Critical Care
10.1111/nicc.12810.
(In press).
|
|
Tummala, Hemanth;
Walne, Amanda;
Buccafusca, Roberto;
Alnajar, Jenna;
Szabo, Anita;
Robinson, Peter;
McConkie-Rosell, Allyn;
... Dokal, Inderjeet; + view all
(2022)
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
The American Journal of Human Genetics
, 109
(8)
pp. 1472-1483.
10.1016/j.ajhg.2022.06.014.
|
|
|
Turati, VA;
Guerra-Assunção, JA;
Potter, NE;
Gupta, R;
Ecker, S;
Daneviciute, A;
Tarabichi, M;
... Enver, T; + view all
(2021)
Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia.
Nature Cancer
, 2
pp. 835-852.
10.1038/s43018-021-00219-3.
|
|
Turgoose, DP;
Kerr, S;
De Coppi, P;
Blackburn, S;
Wilkinson, S;
Rooney, N;
Martin, R;
... Hudson, LD; + view all
(2021)
Prevalence of traumatic psychological stress reactions in children and parents following paediatric surgery: a systematic review and meta-analysis.
BMJ Paediatrics Open
, 5
(1)
, Article e001147. 10.1136/bmjpo-2021-001147.
|
|
|
Turkova, A;
Moore, CL;
Butler, K;
Compagnucci, A;
Saïdi, Y;
Musiime, V;
Nanduudu, A;
... BREATHER (PENTA 16) Trial Group, .; + view all
(2018)
Weekends-off efavirenz-based antiretroviral therapy in HIV-infected children, adolescents and young adults (BREATHER): Extended follow-up results of a randomised, open-label, non-inferiority trial.
PLoS One
, 13
(4)
, Article e0196239. 10.1371/journal.pone.0196239.
|
|
|
Turkova, A;
Volynets, GV;
Crichton, S;
Skvortsova, TA;
Panfilova, VN;
Rogozina, NV;
Khavkin, AI;
... Thorne, C; + view all
(2019)
Advanced liver disease in Russian children and adolescents with chronic hepatitis C.
Journal of Viral Hepatitis
, 26
(7)
pp. 881-892.
10.1111/jvh.13093.
|
|
|
Turner, Rebecca M;
Turkova, Anna;
Moore, Cecilia L;
Bamford, Alasdair;
Archary, Moherndran;
Barlow-Mosha, Linda N;
Cotton, Mark F;
... White, Ian R; + view all
(2022)
Borrowing information across patient subgroups in clinical trials, with application to a paediatric trial.
BMC Medical Research Methodology
, 22
, Article 49. 10.1186/s12874-022-01539-3.
|
|
|
Turtsevich, Inga Z;
Gilmour, Kimberly C;
Hong, Ying;
Eleftheriou, Despina;
Brogan, Paul A;
(2024)
Serum levels of interleukin-18, CXCL9 and IFN-γ in Still's disease complicated by macrophage activation syndrome.
Rheumatology Advances in Practice
, 8
(3)
, Article rkae078. 10.1093/rap/rkae078.
|
|
|
Tyraskis, Athanasios;
Davidson, Joseph;
Billington, Jennifer;
Blackburn, Simon;
Curry, Joseph;
Mullassery, Dhanya;
Giuliani, Stefano;
... De Coppi, Paolo; + view all
(2023)
Ultrasonographic features associated with previous torsion and the impact of surgery in managing neonatal ovarian cysts: a 20-year single-centre retrospective study.
Pediatric Surgery International
, 39
, Article 185. 10.1007/s00383-023-05458-2.
|
|
|
Tyraskis, A;
Bakalis, S;
Scala, C;
Syngelaki, A;
Giuliani, S;
Davenport, M;
David, AL;
... De Coppi, P; + view all
(2018)
A retrospective multicenter study of the natural history of fetal ovarian cysts.
Journal of Pediatric Surgery
10.1016/j.jpedsurg.2018.02.049.
|
U
|
Ullmann, U;
D’Argenzio, L;
Mathur, S;
Whyte, T;
Quinlivan, R;
Longman, C;
Farrugia, ME;
... Muntoni, F; + view all
(2018)
ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects.
Neuromuscular Disorders
, 28
(9)
pp. 741-749.
10.1016/j.nmd.2018.05.012.
|
|
Unni, MNM;
Elfeky, R;
Rao, K;
Nademi, Z;
Chiesa, R;
Amrolia, P;
Skinner, R;
... Slatter, MA; + view all
(2018)
Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience.
Journal of Allergy and Clinical Immunology
, 141
(6)
2319-2321.e1.
10.1016/j.jaci.2018.02.038.
|
|
Urbani, L;
Camilli, C;
Phylactopoulos, DE;
Crowley, C;
Natarajan, D;
Scottoni, F;
Maghsoudlou, PL;
... De Coppi, P; + view all
(2018)
Multi-stage bioengineering of a layered oesophagus with in vitro expanded muscle and epithelial adult progenitors.
Nature Communications
, 9
, Article 4286. 10.1038/s41467-018-06385-w.
|
|
|
Urciuolo, Anna;
Giobbe, Giovanni Giuseppe;
Dong, Yixiao;
Michielin, Federica;
Brandolino, Luca;
Magnussen, Michael;
Gagliano, Onelia;
... Elvassore, Nicola; + view all
(2023)
Hydrogel-in-hydrogel live bioprinting for guidance and control of organoids and organotypic cultures.
Nature Communications
, 14
(1)
, Article 3128. 10.1038/s41467-023-37953-4.
|
|
|
Urciuolo, A;
Poli, I;
Brandolino, L;
Raffa, P;
Scattolini, V;
Laterza, C;
Giobbe, GG;
... Elvassore, N; + view all
(2020)
Intravital three-dimensional bioprinting.
Nature Biomedical Engineering
, 4
pp. 901-915.
10.1038/s41551-020-0568-z.
|
|
Usta, D;
Sigaud, R;
Buhl, JL;
Selt, F;
Marquardt, V;
Pauck, D;
Jansen, J;
... Milde, T; + view all
(2020)
A Cell-Based MAPK Reporter Assay Reveals Synergistic MAPK Pathway Activity Suppression by MAPK Inhibitor Combination in BRAF-Driven Pediatric Low-Grade Glioma Cells.
Molecular Cancer Research
, 19
(8)
pp. 1736-1750.
10.1158/1535-7163.MCT-19-1021.
|
V
|
Vaitkute, Gintare;
Panic, Gordana;
Alber, Dagmar G;
Faizura-Yeop, Intan;
Cloutman-Green, Elaine;
Swann, Jonathan;
Veys, Paul;
... Bajaj-Elliott, Mona; + view all
(2022)
Linking gastrointestinal microbiota and metabolome dynamics to clinical outcomes in paediatric haematopoietic stem cell transplantation.
Microbiome
, 10
, Article 89. 10.1186/s40168-022-01270-7.
|
|
Vakharia, Vejay Niranjan;
Toescu, Sebastien;
Copp, Andrew J;
Thompson, Dominic NP;
(2023)
A topographical analysis of encephalocele locations: generation of a standardised atlas and cluster analysis.
Child's Nervous System
, 39
pp. 1911-1920.
10.1007/s00381-023-05883-7.
|
|
Vakharia, VN;
Diehl, B;
Tisdall, M;
(2021)
Visual field defects in temporal lobe epilepsy surgery.
Current Opinion in Neurology
, 34
(2)
pp. 188-196.
10.1097/WCO.0000000000000905.
|
|
Vakharia, VN;
Sparks, R;
Rodionov, R;
Vos, SB;
Dorfer, C;
Miller, J;
Nilsson, D;
... Duncan, JS; + view all
(2018)
Computer-assisted planning for the insertion of stereoelectroencephalography electrodes for the investigation of drug-resistant focal epilepsy: an external validation study.
Journal of Neurosurgery
10.3171/2017.10.JNS171826.
(In press).
|
|
|
van Arnhem, Marleen ML;
van den Munckhof, Bart;
Arzimanoglou, Alexis;
Perucca, Emilio;
Metsähonkala, Liisa;
Rubboli, Guido;
Søndergaard Khinchi, Marianne;
... RESCUE ESES, study group; + view all
(2024)
Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial.
The Lancet Neurology
, 23
(2)
pp. 147-156.
10.1016/S1474-4422(23)00409-X.
|
|
van Dalen, Thijs;
Kirkham, Jessica F;
Chari, Aswin;
D'Arco, Felice;
Moeller, Friederike;
Eltze, Christin;
Cross, J Helen;
... Thornton, Rachel C; + view all
(2024)
Characterizing Frontal Lobe Seizure Semiology in Children.
Annals of Neurology
, 95
(6)
pp. 1138-1148.
10.1002/ana.26922.
|
|
van de Geer, A;
Nieto-Patlán, A;
Kuhns, DB;
Tool, ATJ;
Arias, AA;
Bouaziz, M;
de Boer, M;
... Bustamante, J; + view all
(2018)
Inherited p40^{phox} deficiency differs from classic chronic granulomatous disease.
The Journal of Clinical Investigation
, 128
(9)
pp. 3957-3975.
10.1172/JCI97116.
|
|
|
van de Lande, LS;
O'Sullivan, E;
Knoops, PGM;
Papaioannou, A;
Ong, J;
James, G;
Jeelani, NO;
... Dunaway, DJ; + view all
(2021)
Local Soft Tissue and Bone Displacements Following Midfacial Bipartition Distraction in Apert Syndrome – Quantification Using a Semi-Automated Method.
Journal of Craniofacial Surgery
, 32
(8)
pp. 2646-2650.
10.1097/SCS.0000000000007875.
|
|
van de Lande, LS;
Caron, CJJM;
Pluijmers, BI;
Joosten, KFM;
Streppel, M;
Dunaway, DJ;
Koudstaal, MJ;
(2018)
Evaluation of Swallow Function in Patients with Craniofacial Microsomia: A Retrospective Study.
Dysphagia
, 33
(2)
pp. 234-242.
10.1007/s00455-017-9851-x.
|
|
|
van de Lande, LS;
Papaioannou, A;
Dunaway, DJ;
(2019)
Geometric morphometrics aided by machine learning in craniofacial surgery.
Journal of Orthodontics
, 46
(1)
pp. 81-83.
10.1177/1465312519840030.
|
|
|
van de Lande, LS;
Pluijmers, BI;
Caron, CJJM;
Wolvius, EB;
Dunaway, DJ;
Koudstaal, MJ;
Padwa, BL;
(2018)
Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review.
Journal of Cranio-Maxillofacial Surgery
, 46
(9)
pp. 1427-1435.
10.1016/j.jcms.2018.05.043.
|
|
Van De Weghe, JC;
Giordano, JL;
Mathijssen, IB;
Mojarrad, M;
Lugtenberg, D;
Miller, CV;
Dempsey, JC;
... Doherty, D; + view all
(2021)
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
HGG Advances
, 2
(1)
, Article 100016. 10.1016/j.xhgg.2020.100016.
|
|
|
Van der Beek, JN;
Hol, JA;
Coulomb-l'Hermine, A;
Graf, N;
Van Tinteren, H;
Pritchard-Jones, K;
Houwing, ME;
... Van den Heuvel-Eibrink, MM; + view all
(2021)
Characteristics and outcome of pediatric renal cell carcinoma patients registered in the International Society of Pediatric Oncology (SIOP) 93‐01, 2001 and UK‐IMPORT database: A report of the SIOP‐Renal Tumor Study Group.
International Journal of Cancer
10.1002/ijc.33476.
(In press).
|
|
|
van Dijk, SJ;
Domenighetti, AA;
Gomez-Ospina, N;
Hunter, P;
Lindemans, CA;
Melotte, V;
van Rossum, AMC;
(2019)
Building a Professional Identity and an Academic Career Track in Translational Medicine.
Frontiers in Medicine
, 6
, Article 151. 10.3389/fmed.2019.00151.
|
|
|
van Dijkhuizen, EHP;
De Iorio, M;
Wedderburn, LR;
Deakin, CT;
JDRG;
(2018)
Clinical signs and symptoms in a joint model of four disease activity parameters in juvenile dermatomyositis: a prospective, longitudinal, multicenter cohort study.
Arthritis Research & Therapy
, 20
(1)
, Article 180. 10.1186/s13075-018-1687-8.
|
|
|
van Tilburg, Cornelis M;
Kilburn, Lindsay B;
Perreault, Sébastien;
Schmidt, Rene;
Azizi, Amedeo A;
Cruz-Martínez, Ofelia;
Zápotocký, Michal;
... Witt, Olaf; + view all
(2024)
LOGGIC/FIREFLY-2: a phase 3, randomized trial of tovorafenib vs. chemotherapy in pediatric and young adult patients with newly diagnosed low-grade glioma harboring an activating RAF alteration.
BMC Cancer
, 24
(1)
, Article 147. 10.1186/s12885-024-11820-x.
|
|
Vandenplas, Y;
Carnielli, VP;
Ksiazyk, J;
Luna, MS;
Migacheva, N;
Mosselmans, JM;
Picaud, JC;
... Wabitsch, M; + view all
(2020)
Factors affecting early-life intestinal microbiota development.
Nutrition
, 78
, Article 110812. 10.1016/j.nut.2020.110812.
|
|
Vanhatalo, Sampsa;
Stevenson, Nathan J;
Pressler, Ronit M;
Abend, Nicholas S;
Auvin, Stephane;
Brigo, Francesco;
Cilio, M Roberta;
... Boylan, Geraldine B; + view all
(2022)
Why monitor the neonatal brain-that is the important question.
Pediatric Research
10.1038/s41390-022-02040-9.
(In press).
|
|
Varela, Malena Daich;
Bellingham, James;
Motta, Fabiana;
Jurkute, Neringa;
Ellingford, Jamie M;
Quinodoz, Mathieu;
Oprych, Kathryn;
... Arno, Gavin; + view all
(2022)
Multi-disciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Human Molecular Genetics
10.1093/hmg/ddac227.
(In press).
|
|
Varela, MD;
Motta, FL;
Webster, AR;
Arno, G;
(2021)
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.
Ophthalmic Genetics
, 43
(1)
pp. 110-115.
10.1080/13816810.2021.1970194.
|
|
Vargha-Khadem, F;
Cacucci, F;
(2021)
A brief history of developmental amnesia.
Neuropsychologia
, 150
, Article 107689. 10.1016/j.neuropsychologia.2020.107689.
|
|
Varnier, GC;
Pilkington, CA;
Wedderburn, LR;
(2018)
Juvenile dermatomyositis: novel treatment approaches and outcomes.
Current Opinion in Rheumatology
, 30
(6)
pp. 650-654.
10.1097/BOR.0000000000000538.
|
|
Vasilica, AM;
Winsor, A;
Chari, A;
Scott, R;
Baldeweg, T;
Tisdall, M;
(2023)
The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis.
Epilepsy Research
, 192
, Article 107132. 10.1016/j.eplepsyres.2023.107132.
(In press).
|
|
Vázquez-Vázquez, Adriana;
Smith, Abigail;
Gibson, Faith;
Roberts, Helen;
Mathews, Gabrielle;
Ward, Joseph Lloyd;
Viner, Russell M;
... Hudson, Lee D; + view all
(2024)
Admissions to paediatric medical wards with a primary mental health diagnosis: a systematic review of the literature.
Archives of Disease in Childhood
10.1136/archdischild-2023-326593.
(In press).
|
|
Vegda, H;
Krishnan, V;
Variane, G;
Bagayi, V;
Ivain, P;
Pressler, RM;
(2022)
Neonatal Seizures—Perspective in Low-and Middle-Income Countries.
Indian Journal of Pediatrics
10.1007/s12098-021-04039-2.
|
|
|
Veligratli, Faidra;
Alexandrou, Demitra;
Shah, Sarit;
Amin, Rakesh;
Dattani, Mehul;
Gan, Hoong-Wei;
Famuboni, Adeola;
... Bockenhauer, Detlef; + view all
(2023)
Tolvaptan and urea in paediatric hyponatraemia.
Pediatric Nephrology
, 39
(1)
pp. 177-183.
10.1007/s00467-023-06091-w.
|
|
Ventura, Soraia;
Mathieson, Sean R;
O'Sullivan, Marc P;
O'Toole, John M;
Livingstone, Vicki;
Pressler, Ronit M;
Dempsey, Eugene M;
... Boylan, Geraldine B; + view all
(2023)
Parent-led massage and sleep EEG for term-born infants: A randomized controlled parallel-group study.
Developmental Medicine & Child Neurology (DMCN)
10.1111/dmcn.15565.
(In press).
|
|
Venturini, C;
Houldcroft, CJ;
Lazareva, A;
Wegner, F;
Morfopoulou, S;
Amrolia, PJ;
Golwala, Z;
... Breuer, J; + view all
(2021)
Epstein-Barr virus (EBV) deletions as biomarkers of response to treatment of chronic active EBV.
British Journal of Haematology
10.1111/bjh.17790.
(In press).
|
|
|
Venturini, Cristina;
Colston, Julia M;
Charles, Oscar;
Lankina, Anastasia;
Best, Timothy;
Atkinson, Claire;
Forrest, Calum;
... Breuer, Judith; + view all
(2024)
Persistent Low-Level Variants in a Subset of Viral Genes Are Highly Predictive of Poor Outcome in Immunocompromised Patients With Cytomegalovirus Infection.
The Journal of Infectious Diseases
10.1093/infdis/jiae001.
(In press).
|
|
Venturini, Cristina;
Pang, Juanita;
Tamuri, Asif U;
Roy, Sunando;
Atkinson, Claire;
Griffiths, Paul;
Breuer, Judith;
(2022)
Haplotype assignment of longitudinal viral deep-sequencing data using co-variation of variant frequencies.
Virus Evolution
, Article veac093. 10.1093/ve/veac093.
(In press).
|
|
Verbruggen, SW;
Kainz, B;
Shelmerdine, SC;
Arthurs, OJ;
Hajnal, JV;
Rutherford, MA;
Phillips, ATM;
(2018)
Altered biomechanical stimulation of the developing hip joint in presence of hip dysplasia risk factors.
Journal of Biomechanics
, 78
pp. 1-9.
10.1016/j.jbiomech.2018.07.016.
|
|
Verbruggen, SW;
Kainz, B;
Shelmerdine, SC;
Hajnal, JV;
Rutherford, MA;
Arthurs, OJ;
Phillips, ATM;
(2018)
Stresses and strains on the human fetal skeleton during development.
Interface
, 15
(138)
, Article 20170593. 10.1098/rsif.2017.0593.
|
|
|
Vergote, Simen;
De Bie, Felix;
Bosteels, Jan;
Hedrick, Holly;
Duffy, James;
Power, Beverley;
Benachi, Alexandra;
... Deprest, Jan; + view all
(2021)
Study protocol: a core outcome set for perinatal interventions for congenital diaphragmatic hernia.
Trials
, 22
, Article 158. 10.1186/s13063-021-05120-z.
|
|
|
Verhaart, IEC;
Johnson, A;
Thakrar, S;
Vroom, E;
De Angelis, F;
Muntoni, F;
Aartsma-Rus, AM;
(2019)
Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective.
Neuromuscular Disorders
10.1016/j.nmd.2019.06.004.
(In press).
|
|
|
Verhagen, MV;
Menezes, LJ;
Neriman, D;
Watson, TA;
Punwani, S;
Taylor, SA;
Shankar, A;
... Humphries, PD; + view all
(2021)
18F-FDG PET/MRI for staging and interim response assessment in pediatric and adolescent Hodgkin lymphoma: a prospective study with 18F-FDG PET/CT as reference standard.
Journal of Nuclear Medicine
10.2967/jnumed.120.260059.
(In press).
|
|
Verity, C;
Winstone, AM;
Will, R;
Powell, A;
Baxter, P;
de Sousa, C;
Gissen, P;
... Zuberi, S; + view all
(2018)
Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?
Archives of Disease in Childhood
10.1136/archdischild-2018-315458.
(In press).
|
|
|
Vernuccio, F;
Arzanauskaite, M;
Turk, S;
Torres, ET;
Choa, JMD;
Udare, AS;
Haroun, D;
... Vilgrain, V; + view all
(2019)
Gender discrepancy in research activities during radiology residency.
Insights into Imaging
, 10
, Article 125. 10.1186/s13244-019-0792-9.
|
|
|
Verploegen, Maartje FA;
Vargas-Poussou, Rosa;
Walsh, Stephen B;
Alpay, Harika;
Amouzegar, Atefeh;
Ariceta, Gema;
Atmis, Bahriye;
... Nijenhuis, Tom; + view all
(2022)
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrology Dialysis Transplantation
, 37
(12)
pp. 2474-2786.
10.1093/ndt/gfac029.
|
|
Verriotis, Madeleine;
Sorger, Clarissa;
Peters, Judy;
Ayoub, Lizbeth J;
Seunarine, Kiran K;
Clark, Chris A;
Walker, Suellen M;
(2022)
Amygdalar Functional Connectivity Differences Associated With Reduced Pain Intensity in Pediatric Peripheral Neuropathic Pain.
Frontiers in Pain Research
, 3
, Article 918766. 10.3389/fpain.2022.918766.
|
|
Verriotis, M;
Jones, L;
Whitehead, K;
Laudiano-Dray, M;
Panayotidis, I;
Patel, H;
Meek, J;
... Fitzgerald, M; + view all
(2018)
The distribution of pain activity across the human neonatal brain is sex dependent.
NeuroImage
, 178
pp. 69-77.
10.1016/j.neuroimage.2018.05.030.
|
|
|
Ververi, Athina;
Zagaglia, Sara;
Menzies, Lara;
Baptista, Julia;
Caswell, Richard;
Baulac, Stephanie;
Ellard, Sian;
... Hurst, Jane A; + view all
(2022)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Human Molecular Genetics
, Article ddac225. 10.1093/hmg/ddac225.
(In press).
|
|
Vestesson, Emma;
Booth, John;
Hatcher, James;
McGarrity, Orlagh;
Sebire, Neil J;
Steventon, Adam;
Suarez Alonso, Carlos;
... Standing, Joseph F; + view all
(2022)
The impact of the COVID-19 pandemic on antimicrobial prescribing at a specialist paediatric hospital: an observational study.
Journal of Antimicrobial Chemotherapy
, 77
(4)
pp. 1185-1188.
10.1093/jac/dkac009.
|
|
Veyckemans, Francis;
Sola, Chrystelle;
De Graaff, Jurgen C;
Becke-Jakob, Karin;
Zielinska, Marzena;
Hansen, Tom G;
Walker, Suellen M;
... Habre, Walid; + view all
(2023)
Epidemiology and outcomes of inguinal surgery with or without regional anaesthesia in neonates and small infants: A subanalysis of the NECTARINE database.
European Journal of Anaesthesiology (EJA)
, 40
(12)
pp. 956-959.
10.1097/eja.0000000000001870.
|
|
Veys, D;
Amrolia, P;
Vora, A;
Veys, P;
Rao, A;
Gattens, M;
(2021)
The Role of Blood and Marrow Transplantation in Treating Pediatric Chronic Myelogenous Leukaemia in the Era of Tyrosine Kinase Inhibitors.
Biology of Blood and Marrow Transplantation
, 27
(1)
pp. 96-97.
10.1016/j.bbmt.2020.10.011.
|
|
Veys, D;
Norton, A;
Ainsworth, JR;
Amrolia, P;
Lucchini, G;
(2020)
Isolated Intraocular Relapse of Pediatric B-cell Precursor Acute Lymphoblastic Leukaemia Following Chimeric Antigen Receptor T-lymphocyte Therapy.
Cureus
, 12
(10)
, Article e10937. 10.7759/cureus.10937.
|
|
|
Vezyroglou, Aikaterini;
Akilapa, Rhoda;
Barwick, Katy;
Koene, Saskia;
Brownstein, Catherine A;
Holder-Espinasse, Muriel;
Fry, Andrew E;
... Balasubramanian, Meena; + view all
(2022)
The Phenotypic Continuum of ATPLA3-Related Disorders.
Neurology
, 99
(14)
e1511-e1526.
10.1212/WNL.0000000000200927.
|
|
Vezyroglou, A;
Varadkar, S;
Bast, T;
Hirsch, E;
Strobl, K;
Harvey, AS;
Epilepsy Surgery in SCN1A Study Group;
... Cross, JH; + view all
(2020)
Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?
Developmental Medicine & Child Neurology
10.1111/dmcn.14588.
(In press).
|
|
|
Vieira, VA;
Adland, E;
Malone, DFG;
Martin, MP;
Groll, A;
Ansari, MA;
Garcia-Guerrero, MC;
... Goulder, PJR; + view all
(2021)
An HLA-I signature favouring KIR-educated Natural Killer cells mediates immune control of HIV in children and contrasts with the HLA-B-restricted CD8+T-cell-mediated immune control in adults.
PLOS Pathogens
, 17
(11)
, Article e1010090. 10.1371/journal.ppat.1010090.
|
|
|
Viering, DHHM;
Chan, MMY;
Hoogenboom, L;
Iancu, D;
de Baaij, JHF;
Tullus, K;
Kleta, R;
(2020)
Genetics of renovascular hypertension in children.
Journal of Hypertension
, 38
(10)
pp. 1964-1970.
10.1097/HJH.0000000000002491.
|
|
Vignier, N;
Chatzifrangkeskou, M;
Pinton, L;
Wioland, H;
Marais, T;
Lemaitre, M;
Le Dour, C;
... Muchir, A; + view all
(2021)
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.
Cell Reports
, 36
(8)
, Article 109601. 10.1016/j.celrep.2021.109601.
|
|
|
Vijayakrishnan, J;
Studd, J;
Broderick, P;
Kinnersley, B;
Holroyd, A;
Law, PJ;
Kumar, R;
... PRACTICAL Consortium; + view all
(2018)
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
Nature Communications
, 9
(1)
, Article 1340. 10.1038/s41467-018-03178-z.
|
|
|
Vijayakrishnan, J;
Studd, J;
Broderick, P;
Kinnersley, B;
Holroyd, A;
Law, PJ;
Kumar, R;
... Houlston, RS; + view all
(2019)
Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
[Corrigendum].
Nature Communications
, 10
(1)
, Article 419. 10.1038/s41467-018-08106-9.
|
|
|
Villaluz, MM;
Lomax, LB;
Jadhav, T;
Cross, JH;
Scheffer, IE;
(2018)
The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy.
Developmental Medicine and Child Neurology
, 60
(7)
pp. 718-723.
10.1111/dmcn.13687.
|
|
Viner, R;
(2019)
Interventions to improve the mental health of children and young people with long-term physical conditions: linked evidence syntheses.
Health Technology Assessment
, 23
(22)
10.3310/hta23220.
|
|
|
Virely, C;
Gasparoli, L;
Mangolini, M;
Clesham, K;
Inglott, S;
Edwards, D;
Adams, S;
... Williams, O; + view all
(2020)
ARHGEF4 Regulates an Essential Oncogenic Program in t(12;21)-Associated Acute Lymphoblastic Leukemia.
HemaSphere
, 4
(5)
, Article e467. 10.1097/HS9.0000000000000467.
|
|
|
Visram, S;
Potts, L;
Sebire, NJ;
Rogers, Y;
Broughton, E;
Chigaru, L;
Nambyiah, P;
(2021)
Making the invisible visible: New perspectives on the intersection of human-environment interactions of clinical teams in intensive care.
Journal of Perinatology
10.1038/s41372-021-01160-0.
(In press).
|
|
|
Visram, S;
Rogers, Y;
Sebire, NJ;
(2024)
Developing a conceptual framework for the early adoption of healthcare technologies in hospitals.
Nature Medicine
, 30
pp. 1222-1224.
10.1038/s41591-024-02860-8.
|
|
Visram, SM;
Gill, D;
Shute, JT;
Cunningham, SJ;
(2019)
Qualitative study to identify issues affecting quality of life in adults with craniofacial anomalies.
British Journal of Oral and Maxillofacial Surgery
, 57
(1)
pp. 47-52.
10.1016/j.bjoms.2018.06.011.
|
|
Viti, F;
De Giorgio, R;
Ceccherini, I;
Ahluwalia, A;
Alves, MM;
Baldo, C;
Baldussi, G;
... Heuckeroth, RO; + view all
(2023)
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Digestive Diseases and Sciences
, 68
pp. 3857-3871.
10.1007/s10620-023-08066-1.
|
|
|
Vivier, P-H;
Augdal, TA;
Avni, FE;
Bacchetta, J;
Beetz, R;
Bjerre, AK;
Blickman, J;
... Riccabona, M; + view all
(2018)
Standardization of pediatric uroradiological terms: a multidisciplinary European glossary.
Pediatric Radiology
, 48
(2)
pp. 291-303.
10.1007/s00247-017-4006-7.
|
|
|
Volkers, N;
Wiebe, S;
Asadi-Pooya, AA;
Balagura, G;
Gómez-Iglesias, P;
Guekht, A;
Hall, J;
... Cross, JH; + view all
(2021)
The initial impact of the SARS-CoV-2 pandemic on epilepsy research.
Epilepsia Open
10.1002/epi4.12471.
(In press).
|
|
|
Volpatti, Jonathan R;
Ghahramani-Seno, Mehdi M;
Mansat, Mélanie;
Sabha, Nesrin;
Sarikaya, Ege;
Goodman, Sarah J;
Chater-Diehl, Eric;
... Dowling, James J; + view all
(2022)
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Acta Neuropathologica
10.1007/s00401-022-02468-7.
(In press).
|
|
|
von Hoff, K;
Haberler, C;
Schmitt-Hoffner, F;
Schepke, E;
de Rojas, T;
Jacobs, S;
Zapotocky, M;
... Kool, M; + view all
(2021)
Therapeutic implications of improved molecular diagnostics for rare CNS-embryonal tumor entities: results of an international, retrospective study.
Neuro-Oncology
, 23
(9)
pp. 1597-1611.
10.1093/neuonc/noab136.
|
|
Von Werthern, Martha;
Sweet, Rebecca;
Tsipa, Anastasia;
Caliskan, Izel;
Clements, Henry;
Alcock, Kat;
Soon, Kristina;
(2023)
Endings and the end of treatment bell in paediatric cancer treatment for acute lymphoblastic leukaemia: An interpretative phenomenological analysis of children’s perspectives.
Journal of Cancer Policy
, 38
, Article 100442. 10.1016/j.jcpo.2023.100442.
|
|
Vondrak, K;
Dhawan, A;
Parisi, F;
Grenda, R;
Debray, D;
Marks, SD;
Webb, NJA;
... Undre, N; + view all
(2018)
Comparative pharmacokinetics of tacrolimus in de novo pediatric transplant recipients randomized to receive immediate- or prolonged-release tacrolimus.
Pediatric Transplantation
, 22
(8)
, Article e13289. 10.1111/petr.13289.
|
|
|
Vos, JM;
Notermans, NC;
D'Sa, S;
Lunn, MP;
van der Pol, WL;
Kraan, W;
Reilly, MM;
... Minnema, MC; + view all
(2017)
High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy.
[Letter].
Journal of Neurology, Neurosurgery & Psychiatry
, 89
(9)
pp. 1007-1009.
10.1136/jnnp-2017-316689.
|
|
|
Vujanić, Gordan M;
Graf, Norbert;
D'Hooghe, Ellen;
Chowdhury, Tanzina;
Vokuhl, Christian;
Al-Saadi, Reem;
Pritchard-Jones, Kathy;
... Furtwängler, Rhoikos; + view all
(2022)
Outcomes of patients with Wilms' tumour stage III due to positive resection margins only: An analysis of patients treated on the SIOP-WT-2001 protocol in the UK-CCLG and GPOH studies.
International Journal of Cancer
10.1002/ijc.34371.
(In press).
|
|
Vujanić, GM;
D'Hooghe, E;
Popov, SD;
Sebire, NJ;
Kelsey, A;
(2019)
The effect of preoperative chemotherapy on histological subtyping and staging of Wilms tumors: The United Kingdom Children's Cancer Study Group (UKCCSG) Wilms tumor trial 3 (UKW3) experience.
Pediatric Blood and Cancer
, 66
(3)
, Article e27549. 10.1002/pbc.27549.
|
|
Vujanić, GM;
Schiavo Lena, M;
Sebire, NJ;
(2019)
Botryoid Wilms tumor: a non-existent "entity" causing diagnostic and staging difficulties.
Virchows Archiv
, 474
(2)
pp. 227-234.
10.1007/s00428-018-2500-4.
|
W
|
Waalewijn, H;
Turkova, A;
Rakhmanina, N;
Cressey, TR;
Penazzato, M;
Colbers, A;
Burger, DM;
(2019)
Optimizing Pediatric Dosing Recommendations and Treatment Management of Antiretroviral Drugs Using Therapeutic Drug Monitoring Data in Children Living With HIV.
Therapeutic Drug Monitorin
, 41
(4)
pp. 431-443.
10.1097/FTD.0000000000000637.
|
|
|
Waddington, Simon N;
Peranteau, William H;
Rahim, Ahad A;
Boyle, Ashley K;
Kurian, Manju A;
Gissen, Paul;
Chan, Jerry KY;
(2023)
Fetal gene therapy.
Journal of Inherited Metabolic Disease
10.1002/jimd.12659.
(In press).
|
|
Wagner, Carsten A;
Unwin, Robert;
Lopez-Garcia, Sergio C;
Kleta, Robert;
Bockenhauer, Detlef;
Walsh, Stephen;
(2023)
The pathophysiology of distal renal tubular acidosis.
Nature Reviews Nephrology
, 19
pp. 384-400.
10.1038/s41581-023-00699-9.
|
|
Wagner, Siegfried K;
Cortina-Borja, Mario;
Silverstein, Steven M;
Zhou, Yukun;
Romero-Bascones, David;
Struyven, Robbert R;
Trucco, Emanuele;
... Keane, Pearse A; + view all
(2023)
Association Between Retinal Features From Multimodal Imaging and Schizophrenia.
JAMA Psychiatry
, Article e230171. 10.1001/jamapsychiatry.2023.0171.
(In press).
|
|
Wagner, Siegfried K;
Liefers, Bart;
Radia, Meera;
Zhang, Gongyu;
Struyven, Robbert;
Faes, Livia;
Than, Jonathan;
... Balaskas, Konstantinos; + view all
(2023)
Development and international validation of custom-engineered and code-free deep-learning models for detection of plus disease in retinopathy of prematurity: a retrospective study.
The Lancet Digital Health
10.1016/S2589-7500(23)00050-X.
(In press).
|
|
Wagner, Siegfried K;
Patel, Praveen J;
Huemer, Josef;
Khalid, Hagar;
Stuart, Kelsey V;
Chu, Colin J;
Williamson, Dominic J;
... UK Biobank Eye & Vision Consortium, .; + view all
(2024)
Periodontitis and outer retinal thickness: A cross-sectional analysis of the UK Biobank cohort.
Ophthalmology Science
, 4
(4)
, Article 100472. 10.1016/j.xops.2024.100472.
|
|
Wagner, Siegfried K;
Raja, Laxmi;
Cortina-Borja, Mario;
Huemer, Josef;
Struyven, Robbert;
Keane, Pearse A;
Balaskas, Konstantinos;
... Kang, Swan; + view all
(2023)
Determinants of non-attendance at face-to-face and telemedicine ophthalmic consultations.
British Journal of Ophthalmology
10.1136/bjo-2022-322389.
(In press).
|
|
|
Wagstyl, K;
Whitaker, K;
Raznahan, A;
Seidlitz, J;
Vertes, PE;
Foldes, S;
Humphreys, Z;
... Adler, S; + view all
(2021)
Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study.
Epilespia
10.1111/epi.17130.
|
|
|
Wagstyl, K;
Adler, S;
Pimpel, B;
Chari, A;
Seunarine, K;
Lorio, S;
Thornton, R;
... Tisdall, M; + view all
(2020)
Planning stereoelectroencephalography using automated lesion detection: Retrospective feasibility study.
Epilepsia
10.1111/epi.16574.
(In press).
|
|
|
Wahedi, Azizia;
Soondram, Chandika;
Murphy, Alan E;
Skene, Nathan;
Rahman, Shamima;
(2022)
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.
Journal of Inherited Metabolic Disease
10.1002/jimd.12578.
(In press).
|
|
Walf-Vorderwülbecke, V;
Pearce, K;
Brooks, T;
Hubank, M;
Van den Heuvel-Eibrink, MM;
Zwaan, CM;
Adams, S;
... Williams, O; + view all
(2018)
Targeting acute myeloid leukemia by drug-induced c-MYB degradation.
Leukemia
, 32
pp. 882-889.
10.1038/leu.2017.317.
|
|
Walimbe, AS;
Okuma, H;
Joseph, S;
Yang, T;
Yonekawa, T;
Hord, JM;
Venzke, D;
... Campbell, KP; + view all
(2020)
POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan.
Elife
, 9
, Article e61388. 10.7554/eLife.61388.
(In press).
|
|
|
Walker, I;
Trompeter, S;
Howard, J;
Williams, A;
Bell, R;
Bingham, R;
Bankes, M;
... Elton, C; + view all
(2021)
Guideline on the peri-operative management of patients with sickle cell disease: Guideline from the Association of Anaesthetists.
Anaesthesia
, 76
(6)
pp. 805-817.
10.1111/anae.15349.
|
|
Walker, SM;
Malkmus, S;
Eddinger, K;
Steinauer, J;
Roberts, AJ;
Shubayev, VI;
Grafe, MR;
... Yaksh, TL; + view all
(2022)
Evaluation of neurotoxicity and long-term function and behavior following intrathecal 1 % 2-chloroprocaine in juvenile rats.
NeuroToxicology
, 88
pp. 155-167.
10.1016/j.neuro.2021.11.010.
|
|
|
Walker, SM;
Selers, EL;
Jay, MA;
(2022)
Intravenous opioids for chemotherapy-induced severe mucositis pain in children: Systematic review and single-center case series of management with patient- or nurse-controlled analgesia (PCA/NCA).
Pediatric Anesthesia
, 32
(1)
pp. 17-34.
10.1111/pan.14324.
|
|
Walker, Suellen M;
Engelhardt, Thomas;
Ahmad, Nargis;
Dobby, Nadine;
UK Collaborators;
NECTARINE Group Steering Committee;
(2022)
Perioperative critical events and morbidity associated with anesthesia in early life: Subgroup analysis of United Kingdom participation in the NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE) prospective multicenter observational study.
Pediatric Anesthesia
, 32
(7)
pp. 801-814.
10.1111/pan.14457.
|
|
Walker, Suellen M;
Peters, Judy;
Verriotis, Madeleine;
Farag, Fadila;
Jay, Matthew A;
Howard, Richard F;
(2023)
Sensitivity and specificity of a neuropathic screening tool (Self-report Leeds Assessment of Neuropathic Symptoms and Signs, S-LANSS) in adolescents with moderate-severe chronic pain.
The Journal of Pain
10.1016/j.jpain.2023.09.006.
(In press).
|
|
Walker, S;
(2019)
Early life pain—effects in the adult.
Current Opinion in Physiology
, 11
pp. 16-24.
10.1016/j.cophys.2019.04.011.
|
|
Walker, SM;
(2020)
Neuropathic pain in children: Steps towards improved recognition and management.
EBioMedicine
, 62
, Article 103124. 10.1016/j.ebiom.2020.103124.
|
|
|
Walker, SM;
Melbourne, A;
O'Reilly, H;
Beckmann, J;
Eaton-Rosen, Z;
Ourselin, S;
Marlow, N;
(2018)
Somatosensory function and pain in extremely preterm young adults from the UK EPICure cohort: sex-dependent differences and impact of neonatal surgery.
British Journal of Anaesthesia
10.1016/j.bja.2018.03.035.
(In press).
|
|
|
Walker, SM;
Moriarty, O;
Harrington, L;
Beggs, S;
(2018)
Opioid analgesia and the somatosensory memory of neonatal surgical injury in the adult rat.
British Journal of Anaesthesia
, 121
(1)
pp. 314-324.
10.1016/j.bja.2017.11.111.
|
|
|
Walker, SM;
O'Reilly, H;
Beckmann, J;
Marlow, N;
EPICure@19 Study Group, .;
(2018)
Conditioned pain modulation identifies altered sensitivity in extremely preterm young adult males and females.
British Journal of Anaesthesia
, 121
(3)
pp. 636-646.
10.1016/j.bja.2018.05.066.
|
|
Walsh, Sandra;
Pan, Shan;
Sheng, Yucheng;
Kloprogge, Frank;
Standing, Joe F;
Anderson, Brian J;
Ramnarayan, Padmanabhan;
(2023)
Optimising intravenous salbutamol in children: a phase 2 study.
Archives of Disease in Childhood
10.1136/archdischild-2022-324008.
(In press).
|
|
Walton, Holly;
Ng, Pei Li;
Simpson, Amy;
Bloom, Lara;
Chitty, Lyn S;
Fulop, Naomi J;
Hunter, Amy;
... Morris, Stephen; + view all
(2023)
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
Orphanet Journal of Rare Diseases
, 18
, Article 364. 10.1186/s13023-023-02934-9.
|
|
Wan, M;
Patel, A;
Patel, J;
Rait, G;
Jones, S;
Shroff, R;
(2020)
Quality and use of unlicensed vitamin D preparations in primary care in England: retrospective review of national prescription data and laboratory analysis.
British Journal of Clinical Pharmacology
10.1111/bcp.14521.
(In press).
|
|
|
Wang, L;
Liu, C;
Xie, L;
(2021)
Editorial: Metallic Biomaterials for Medical Applications.
Frontiers in Materials
, 8
, Article 795642. 10.3389/fmats.2021.795642.
|
|
|
Wang, X;
Nijman, R;
Camuzeaux, S;
Sands, C;
Jackson, H;
Kaforou, M;
Emonts, M;
... EUCLIDS consortium; + view all
(2019)
Plasma lipid profiles discriminate bacterial from viral infection in febrile children.
Scientific Reports
, 9
, Article 17714. 10.1038/s41598-019-53721-1.
|
|
|
Warren-Gash, Charlotte;
Cadogan, Sharon L;
Nicholas, Jennifer M;
Breuer, Judith M;
Shah, Divya;
Pearce, Neil;
Shiekh, Suhail;
... Dominantly Inherited Alzheimer Network; + view all
(2022)
Herpes simplex virus and rates of cognitive decline or whole brain atrophy in the Dominantly Inherited Alzheimer Network.
Annals of Clinical and Translational Neurology
10.1002/acn3.51669.
(In press).
|
|
Waterhouse, Dale J;
Privitera, Laura;
Anderson, John;
Stoyanov, Danail;
Giuliani, Stefano;
(2023)
Enhancing intraoperative tumor delineation with multispectral short-wave infrared fluorescence imaging and machine learning.
Journal of Biomedical Optics
, 28
(9)
, Article 094804. 10.1117/1.JBO.28.9.094804.
|
|
Watkin, S;
Ciric, L;
Kiernan, M;
Cloutman-Green, E;
(2023)
A proposed classification system for opportunistic pathogens for improved healthcare infection prevention and control risk assessments.
Journal of Hospital Infection
, 135
pp. 206-207.
10.1016/j.jhin.2023.03.008.
|
|
Watson, T;
Oostveen, M;
Rogers, H;
Pritchard-Jones, K;
Olsen, Ø;
(2020)
The role of imaging in the initial investigation of paediatric renal tumours.
The Lancet Child & Adolescent Health
, 4
(3)
pp. 232-241.
10.1016/S2352-4642(19)30340-2.
|
|
Wattjes, MP;
Ciccarelli, O;
Reich, DS;
Banwell, B;
de Stefano, N;
Enzinger, C;
Fazekas, F;
... North American Imaging in Multiple Sclerosis Cooperative MRI gui; + view all
(2021)
2021 MAGNIMS–CMSC–NAIMS consensus recommendations on the use of MRI in patients with multiple sclerosis.
The Lancet Neurology
, 20
(8)
pp. 653-670.
10.1016/S1474-4422(21)00095-8.
|
|
Wawrzynski, James;
Martinez, Ana Rodriguez;
Thompson, Dorothy Ann;
Ram, Dipak;
Bowman, Richard;
Whiteley, Rebecca;
Gan, Chin;
... Henderson, Robert H; + view all
(2023)
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
Eye
10.1038/s41433-023-02859-4.
(In press).
|
|
Way, CM;
Lima Cunha, D;
Moosajee, M;
(2020)
Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies.
Expert Review of Ophthalmology
, 15
(3)
pp. 169-182.
10.1080/17469899.2020.1762489.
|
|
Wedderburn, Lucy R;
Ramanan, Athimalaipet V;
Croft, Adam P;
Hyrich, Kimme L;
Dick, Andrew;
(2022)
Towards molecular-pathology informed clinical trials in childhood arthritis to achieve precision medicine in juvenile idiopathic arthritis.
Annals of the Rheumatic Diseases
10.1136/ard-2022-222553.
(In press).
|
|
Weerts, MJA;
Lanko, K;
Guzman-Vega, FJ;
Jackson, A;
Ramakrishnan, R;
Cardona-Londono, KJ;
Pena-Guerra, KA;
... Barakat, TS; + view all
(2021)
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genetics in Medicine
10.1038/s41436-021-01246-2.
|
|
|
Wegert, J;
Vokuhl, C;
Collord, G;
Velasco-Herrera, MDC;
Farndon, SJ;
Guzzo, C;
Jorgensen, M;
... Behjati, S; + view all
(2018)
Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
Nature Communications
, 9
, Article 2378. 10.1038/s41467-018-04650-6.
|
|
|
Wei, W;
Pagnamenta, AT;
Gleadall, N;
Sanchis-Juan, A;
Stephens, J;
Broxholme, J;
Tuna, S;
... Chinnery, PF; + view all
(2020)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Nature Communications
, 11
, Article 1740. 10.1038/s41467-020-15336-3.
|
|
|
Wei, W;
Tuna, S;
Keogh, MJ;
Smith, KR;
Aitman, TJ;
Beales, PL;
Bennett, DL;
... Chinnery, PF; + view all
(2019)
Germline selection shapes human mitochondrial DNA diversity.
Science
, 364
(6442)
, Article eaau6520. 10.1126/science.aau6520.
|
|
|
Weibel, L;
Theiler, M;
Howell, KJ;
Denton, CP;
Waelchli, R;
Atherton, D;
Woo, P;
(2020)
Prospective evaluation of treatment response and disease reversibility of paediatric localized scleroderma (morphoea) to steroids and methotrexate using multi-modal imaging.
Journal of the European Academy of Dermatology and Venereology
, 34
(7)
pp. 1609-1616.
10.1111/jdv.16308.
|
|
Weiss, SL;
Peters, MJ;
(2019)
Risks and benefits of fluid bolus therapy: The need for a good explanation.
[Editorial comment].
Archives of Disease in Childhood
10.1136/archdischild-2019-317789.
(In press).
|
|
|
Weiss, SL;
Peters, MJ;
(2018)
Focus on paediatrics: 2017.
Intensive Care Medicine
, 44
(2)
pp. 235-237.
10.1007/s00134-017-5025-4.
|
|
|
Weiss, SL;
Peters, MJ;
Agus, MSD;
Alhazzani, W;
Choong, K;
Flori, HR;
Inwald, DP;
... Children’s Surviving Sepsis Campaign International Guidelines fo; + view all
(2020)
Perspective of the Surviving Sepsis Campaign on the Management of Pediatric Sepsis in the Era of Coronavirus Disease 2019.
Pediatric Critical Care Medicine
, 21
(11)
e1031-e1037.
10.1097/PCC.0000000000002553.
|
|
Weiss, SL;
Peters, MJ;
Alhazzani, W;
Agus, MSD;
Flori, HR;
Inwald, DP;
Nadel, S;
... Tissieres, P; + view all
(2020)
Executive Summary: Surviving Sepsis Campaign International Guidelines for the Management of Septic Shock and Sepsis-Associated Organ Dysfunction in Children.
Pediatric Critical Care Medicine
, 21
(2)
pp. 186-195.
10.1097/PCC.0000000000002197.
|
|
Weiss, SL;
Peters, MJ;
Alhazzani, W;
Agus, MSD;
Flori, HR;
Inwald, DP;
Nadel, S;
... Tissieres, P; + view all
(2020)
Executive summary: surviving sepsis campaign international guidelines for the management of septic shock and sepsis-associated organ dysfunction in children.
Intensive Care Medicine
, 46
(Suppl 1)
pp. 1-9.
10.1007/s00134-019-05877-7.
|
|
Weiss, SL;
Peters, MJ;
Alhazzani, W;
Agus, MSD;
Flori, HR;
Inwald, DP;
Nadel, S;
... Tissieres, P; + view all
(2020)
Surviving Sepsis Campaign International Guidelines for the Management of Septic Shock and Sepsis-Associated Organ Dysfunction in Children.
Pediatric Critical Care Medicine
, 21
(2)
e52-e106.
10.1097/PCC.0000000000002198.
|
|
Weiss, SL;
Peters, MJ;
Alhazzani, W;
Agus, MSD;
Flori, HR;
Inwald, DP;
Nadel, S;
... Tissieres, P; + view all
(2020)
Surviving sepsis campaign international guidelines for the management of septic shock and sepsis-associated organ dysfunction in children.
Intensive Care Medicine
, 46
(Suppl 1)
pp. 10-67.
10.1007/s00134-019-05878-6.
|
|
Wells, E;
Hacohen, Y;
Waldman, A;
Tillema, JM;
Soldatos, A;
Ances, B;
Benseler, S;
... Banwell, B; + view all
(2018)
Neuroimmune disorders of the central nervous system in children in the molecular era.
Nature Reviews Neurology
, 14
pp. 433-445.
10.1038/s41582-018-0024-9.
|
|
Wells, JC;
Davies, PS;
Hopkins, M;
Blundell, JE;
(2021)
The "drive to eat" hypothesis: energy expenditure and fat-free mass but not adiposity are associated with milk intake and energy intake in 12 week infants.
The American Journal of Clinical Nutrition
10.1093/ajcn/nqab067.
(In press).
|
|
|
Wenker, Suzanne AM;
Alabdulkarim, Najla;
Readman, John B;
Slob, Elise MA;
Satta, Giovanni;
Ali, Shanom;
Gadher, Nishma;
... Standing, Joseph F; + view all
(2024)
Defining the pharmacokinetic/pharmacodynamic index of piperacillin/tazobactam within a hollow-fibre infection model to determine target attainment in intensive care patients.
JAC-Antimicrobial Resistance
, 6
(2)
, Article dlae036. 10.1093/jacamr/dlae036.
|
|
Wesseling, P;
Jacques, TS;
(2018)
Taxonomy of CNS tumours; a series of three short reviews on the WHO 2016 classification and beyond.
[Editorial comment].
Neuropathology and Applied Neurobiology
, 44
(2)
pp. 137-138.
10.1111/nan.12442.
|
|
|
Westhaus, Adrian;
Cabanes Creus, Marti;
Dilworth, Kimberley L;
Zhu, Erhua;
Salas, David;
Navarro, Renina Gale;
Amaya, Anais Karime;
... Lisowski, Leszek; + view all
(2023)
Assessment of pre-clinical liver models based on their ability to predict the liver-tropism of AAV vectors.
Human Gene Therapy
, 34
(7-8)
pp. 273-288.
10.1089/hum.2022.188.
|
|
Weststrate, Harriet;
Stimpson, Georgia;
Thomas, Lily;
Scoto, Mariacristina;
Johnson, Emily;
Stewart, Alexandra;
Muntoni, Francesco;
... Conway, Eleanor; + view all
(2022)
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen.
Developmental Medicine & Child Neurology
10.1111/dmcn.15171.
|
|
|
Whittaker, Thomas E;
Moula, Shefta E;
Bahal, Sameer;
Bakri, Faris G;
Hayajneh, Wail A;
Daoud, Ammar K;
Naseem, Asma;
... Santilli, Giorgia; + view all
(2024)
Multidimensional Response Surface Methodology for the development of a gene editing protocol for p67ₚₕₒₓ-deficient Chronic Granulomatous Disease.
Human Gene Therapy
, 35
(7-8)
pp. 298-312.
10.1089/hum.2023.114.
|
|
Whittam, DH;
Cobo-Calvo, A;
Lopez-Chiriboga, AS;
Pardo, S;
Gornall, M;
Cicconi, S;
Brandt, A;
... Jacob, A; + view all
(2020)
Treatment of MOG-IgG-associated disorder with rituximab: An international study of 121 patients.
Multiple Sclerosis and Related Disorders
, 44
, Article 102251. 10.1016/j.msard.2020.102251.
|
|
Whitworth, J;
Smith, PS;
Martin, J-E;
West, H;
Luchetti, A;
Rodger, F;
Clark, G;
... Maher, ER; + view all
(2018)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
The American Journal of Human Genetics
, 103
(1)
pp. 3-18.
10.1016/j.ajhg.2018.04.013.
|
|
|
Wibbeler, E;
Wang, R;
Reyes, EDL;
Specchio, N;
Gissen, P;
Guelbert, N;
Nickel, M;
... Schulz, A; + view all
(2020)
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Journal of Child Neurology
10.1177/0883073820977997.
(In press).
|
|
|
Wienke, J;
Bellutti Enders, F;
Lim, J;
Mertens, JS;
van den Hoogen, LL;
Wijngaarde, CA;
Yeo, JG;
... van Wijk, F; + view all
(2019)
Galectin-9 and CXCL10 as biomarkers for disease activity in juvenile dermatomyositis: a longitudinal cohort study and multi-cohort validation.
Arthritis and Rheumatology
, 71
(8)
pp. 1377-1390.
10.1002/art.40881.
|
|
Wienke, J;
Deakin, CT;
Wedderburn, LR;
van Wijk, F;
van Royen-Kerkhof, A;
(2018)
Systemic and Tissue Inflammation in Juvenile Dermatomyositis: From Pathogenesis to the Quest for Monitoring Tools.
Frontiers in Immunology
, 9
, Article 2951. 10.3389/fimmu.2018.02951.
|
|
|
Wijeyesekera, A;
Wagner, J;
De Goffau, M;
Thurston, S;
Rodrigues Sabino, A;
Zaher, S;
White, D;
... Pathan, N; + view all
(2019)
Multi-Compartment Profiling of Bacterial and Host Metabolites Identifies Intestinal Dysbiosis and Its Functional Consequences in the Critically Ill Child.
Critical Care Medicine
10.1097/CCM.0000000000003841.
(In press).
|
|
|
Wilke, M;
Baldeweg, T;
(2019)
A multidimensional artefact-reduction approach to increase robustness of first-level fMRI analyses: Censoring vs. interpolating.
Journal of Neuroscience Methods
, 318
pp. 56-68.
10.1016/j.jneumeth.2019.02.008.
|
|
Wilkins, AJ;
Haigh, SM;
Mahroo, OA;
Plant, GT;
(2021)
Photophobia in migraine: A symptom cluster?
Cephalalgia
10.1177/03331024211014633.
|
|
|
Wilkinson, MGL;
Radziszewska, A;
Wincup, C;
Ioannou, Y;
Isenberg, DA;
Manson, JJ;
Jury, EC;
(2020)
Using peripheral blood immune signatures to stratify patients with adult and juvenile inflammatory myopathies.
Rheumatology
, 59
(1)
pp. 194-204.
10.1093/rheumatology/kez252.
|
|
Wilkinson, MGL;
Rosser, EC;
(2019)
B Cells as a Therapeutic Target in Paediatric Rheumatic Disease.
Frontiers in Neuroscience
, 10
, Article 214. 10.3389/fimmu.2019.00214.
|
|
Wilks, C;
Ahmed, O;
Baker, DN;
Zhang, D;
Collado-Torres, L;
Langmead, B;
(2021)
Megadepth: efficient coverage quantification for BigWigs and BAMs.
Bioinformatics
, 37
(18)
pp. 3014-3016.
10.1093/bioinformatics/btab152.
|
|
|
Williamson, Daniel;
Schwalbe, Edward C;
Hicks, Debbie;
Aldinger, Kimberly A;
Lindsey, Janet C;
Crosier, Stephen;
Richardson, Stacey;
... Clifford, Steven C; + view all
(2022)
Medulloblastoma group 3 and 4 tumors comprise a clinically and biologically significant expression continuum reflecting human cerebellar development.
Cell Reports
, 40
(5)
, Article 111162. 10.1016/j.celrep.2022.111162.
|
|
|
Willmott, Emma;
Dickinson, Rachel;
Hall, Celine;
Sadikovic, Kevser;
Wadhera, Emily;
Micali, Nadia;
Trompeter, Nora;
(2023)
A scoping review of psychological interventions and outcomes for avoidant and restrictive food intake disorder (ARFID).
International Journal of Eating Disorders
10.1002/eat.24073.
(In press).
|
|
|
Willoughby, J;
Duff-Farrier, C;
Desurkar, A;
Kurian, M;
Raghavan, A;
DDD Study;
Balasubramanian, M;
(2018)
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.
American Journal of Medical Genetics Part A
, 176
(5)
pp. 1049-1054.
10.1002/ajmg.a.38656.
|
|
Wilson, Lindsay A;
Macken, William L;
Perry, Luke D;
Record, Christopher J;
Schon, Katherine R;
Frezatti, Rodrigo SS;
Raga, Sharika;
... Hanna, Michael G; + view all
(2023)
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
, Article awad254. 10.1093/brain/awad254.
(In press).
|
|
|
Wilson, M;
Chopra, R;
Wilson, MZ;
Cooper, C;
MacWilliams, P;
Liu, Y;
Wulczyn, E;
... Kelly, CJ; + view all
(2021)
Validation and Clinical Applicability of Whole-Volume Automated Segmentation of Optical Coherence Tomography in Retinal Disease Using Deep Learning.
JAMA Ophthalmology
10.1001/jamaophthalmol.2021.2273.
|
|
|
Wirrell, Elaine C;
Nabbout, Rima;
Scheffer, Ingrid E;
Alsaadi, Taoufik;
Bogacz, Alicia;
French, Jacqueline A;
Hirsch, Edouard;
... Tinuper, Paolo; + view all
(2022)
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions.
Epilepsia
10.1111/epi.17237.
|
|
Wirrell, EC;
Grinspan, ZM;
Knupp, KG;
Jiang, Y;
Hammeed, B;
Mytinger, JR;
Patel, AD;
... Shellhaas, RA; + view all
(2020)
Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians.
Journal of Child Neurology
10.1177/0883073820940189.
(In press).
|
|
|
Wirth, Thomas;
Garone, Giacomo;
Kurian, Manju A;
Piton, Amelie;
Millan, Francisca;
Telegrafi, Aida;
Drouot, Nathalie;
... Anheim, Mathieu; + view all
(2022)
Highlighting the Dystonic Phenotype Related to GNAO1.
Movement Disorders
10.1002/mds.29074.
(In press).
|
|
Wolfe, A;
Scoto, M;
Milev, E;
Lofra, RM;
Abbott, L;
Wake, R;
Rohwer, A;
... Muntoni, F; + view all
(2021)
Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation.
Muscle & Nerve
, 64
(5)
pp. 545-551.
10.1002/mus.27404.
|
|
Wolstencroft, Jeanne;
Mandy, William;
Brown-Wright, Lucy;
Murin, Marianna;
Skuse, David;
DeJong, Margaret;
(2023)
Can we distinguish the consequences of early maltreatment on child behaviour from idiopathic autism?
Archives of Disease in Childhood
10.1136/archdischild-2022-324156.
(In press).
|
|
Wolstencroft, J;
Kerry, E;
Denyer, H;
Watkins, A;
Mandy, W;
Skuse, D;
(2021)
New approaches to social skills training: Blended group interventions for girls with social communication difficulties.
Autism Research
, 14
(5)
pp. 1061-1072.
10.1002/aur.2495.
|
|
Wong, EKS;
Marchbank, KJ;
Lomax-Browne, H;
Pappworth, IY;
Denton, H;
Cooke, K;
Ward, S;
... MPGN/DDD/C3 Glomerulopathy Rare Disease Group and National Study; + view all
(2021)
C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes.
Clinical Journal of the American Society of Nephrology (CJASN)
, 16
(11)
pp. 1639-1651.
10.2215/CJN.00320121.
|
|
|
Wong, YYM;
Hacohen, Y;
Armangue, T;
Wassmer, E;
Verhelst, H;
Hemingway, C;
van Pelt, ED;
... Neuteboom, RF; + view all
(2018)
Paediatric acute disseminated encephalomyelitis followed by optic neuritis: disease course, treatment response and outcome.
European Journal of Neurology
, 25
(5)
pp. 782-786.
10.1111/ene.13602.
|
|
Wood, D;
Geoghegan, S;
Ramnarayan, P;
Davis, PJ;
Pappachan, JV;
Goodwin, S;
Wray, J;
(2018)
Eliciting the experiences of the adolescent-parent dyad following critical care admission: a pilot study.
European Journal of Pediatrics
, 177
(5)
pp. 747-752.
10.1007/s00431-018-3117-y.
|
|
|
Woodall, Maximillian NJ;
Cujba, Ana-Maria;
Worlock, Kaylee B;
Case, Katie-Marie;
Masonou, Tereza;
Yoshida, Masahiro;
Polanski, Krzysztof;
... Smith, Claire M; + view all
(2024)
Age-specific nasal epithelial responses to SARS-CoV-2 infection.
Nature Microbiology
10.1038/s41564-024-01658-1.
(In press).
|
|
Woodcock, T;
Barker, P;
Daniel, S;
Fletcher, S;
Wass, JAH;
Tomlinson, JW;
Misra, U;
... Vercueil, A; + view all
(2020)
Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.
Anaesthesia
, 75
(5)
pp. 654-663.
10.1111/anae.14963.
|
|
|
Woolfall, K;
O'Hara, C;
Deja, E;
Canter, R;
Khan, I;
Mouncey, P;
Carter, A;
... Inwald, D; + view all
(2019)
Parents' prioritised outcomes for trials investigating treatments for paediatric severe infection: A qualitative synthesis.
Archives of Disease in Childhood
10.1136/archdischild-2019-316807.
(In press).
|
|
Wortmann, SB;
Meunier, B;
Mestek-Boukhibar, L;
van den Broek, F;
Maldonado, EM;
Clement, E;
Weghuber, D;
... Rahman, S; + view all
(2020)
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
The American Journal of Human Genetics
, 106
(2)
pp. 256-263.
10.1016/j.ajhg.2020.01.005.
|
|
Wray, J;
Ridout, D;
Jones, A;
Davis, P;
Wellman, P;
Rodrigues, W;
Hudson, E;
... Brown, KL; + view all
(2024)
The Impact of Morbidities Following Pediatric Cardiac Surgery on Family Functioning and Parent Quality of Life.
Pediatric Cardiology
, 45
pp. 14-23.
10.1007/s00246-023-03312-9.
|
|
Wray, J;
Ridout, D;
Jones, A;
Davis, P;
Wellman, P;
Rodrigues, W;
Hudson, E;
... Brown, KL; + view all
(2020)
Morbidities After Cardiac Surgery: Impact on Children's Quality of Life and Parents' Mental Health.
The Annals of Thoracic Surgery
, 112
(6)
pp. 2055-2062.
10.1016/j.athoracsur.2020.11.003.
|
|
Wray, J;
Brown, K;
Tregay, J;
Crowe, S;
Knowles, R;
Bull, K;
Gibson, F;
(2018)
Parents' Experiences of Caring for Their Child at the Time of Discharge After Cardiac Surgery and During the Postdischarge Period: Qualitative Study Using an Online Forum.
Journal of Medical Internet Research
, 20
(5)
, Article e155. 10.2196/jmir.9104.
|
|
|
Wray, J;
Brown, KL;
Ridout, D;
Lakhanpaul, M;
Smith, L;
Scarisbrick, A;
O'Curry, S;
(2018)
Development and preliminary testing of the Brief Developmental Assessment: an early recognition tool for children with heart disease.
Cardiology in the Young
, 28
(4)
pp. 582-591.
10.1017/S1047951117002918.
|
|
|
Wray, J;
Cassedy, A;
Ernst, MM;
Franklin, RC;
Brown, K;
Marino, BS;
(2018)
Psychosocial functioning of parents of children with heart diseasedescribing the landscape.
European Journal of Pediatrics
, 177
(12)
pp. 1811-1821.
10.1007/s00431-018-3250-7.
|
|
Wray, J;
Ryde, M;
Butler, CR;
Hewitt, RJ;
(2019)
Quality of life can be good after slide tracheoplasty for long-segment tracheal stenosis.
Interactive Cardiovascular and Thoracic Surgery
, 29
(6)
pp. 876-882.
10.1093/icvts/ivz194.
|
|
Wray, J;
Tregay, J;
Bull, C;
Knowles, RL;
Crowe, S;
Brown, K;
(2018)
Issues facing families of infants discharged after cardiac surgery: the perceptions of charity helpline staff.
Acta Pædiatrica
, 107
(8)
pp. 1418-1426.
10.1111/apa.14304.
|
|
Wright, J;
Elwell, L;
McDonagh, J;
Kelly, D;
McClean, P;
Ferguson, J;
Wray, J;
(2019)
Healthcare transition in pediatric liver transplantation: The perspectives of pediatric and adult healthcare professionals.
Pediatric Transplantation
, 23
(6)
, Article e13530. 10.1111/petr.13530.
|
|
Wright, J;
Hill, RA;
Eastwood, DM;
Hashemi-Nejad, A;
Calder, P;
Tennant, S;
(2018)
Posteromedial bowing of the tibia: A benign condition or a case for limb reconstruction?
Journal of Children's Orthopaedics
, 12
(2)
pp. 187-196.
10.1302/1863-2548.12.170211.
|
|
|
Wu, Tong Tong;
Finkel, Richard S;
Siskind, Carly E;
Feely, Shawna ME;
Burns, Joshua;
Reilly, Mary M;
Muntoni, Francesco;
... Childhood CMT Study Group, of the Inherited Neuropathy Consortium; + view all
(2023)
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
Journal of the Peripheral Nervous System
, 28
(2)
pp. 237-251.
10.1111/jns.12538.
|
|
Wu, Y;
Fraser, C;
Gilbert, R;
Mok, Q;
(2019)
Effect of impregnated central venous catheters on thrombosis in paediatric intensive care: Post-hoc analyses of the CATCH trial.
PLoS One
, 14
(3)
, Article e0214607. 10.1371/journal.pone.0214607.
|
|
X
|
Xavier Lopez-Labrador, F;
Brown, JR;
Fischer, N;
Harvala, H;
Van Boheemen, S;
Cinek, O;
Sayiner, A;
... de Vries, JJC; + view all
(2021)
Recommendations for the introduction of metagenomic high-throughput sequencing in clinical virology, part I: Wet lab procedure.
jJournal of Clinical Virology
, 134
, Article 104691. 10.1016/j.jcv.2020.104691.
|
|
|
Xekouki, P;
Lodge, EJ;
Matschke, J;
Santambrogio, A;
Apps, JR;
Sharif, A;
Jacques, TS;
... Andoniadou, C; + view all
(2019)
Non-secreting pituitary tumours characterised by enhanced expression of YAP/TAZ.
Endocrine-Related Cancer
, 26
(1)
pp. 215-225.
10.1530/ERC-18-0330.
|
|
|
Xian Lim, Karen Mei;
Lewis, Celine;
Wong, Hung Chew;
Chong, Glenda Sze Ling;
Gosavi, Arundhati;
Choolani, Mahesh Arjandas;
(2022)
Does an educational video for aneuploidy screening improve informed choice among pregnant women? A randomised controlled trial.
Prenatal Diagnosis
10.1002/pd.6279.
(In press).
|
|
Xiong, S;
Lyu, Y;
Davenport, A;
Choy, KL;
(2021)
Sponge-like chitosan based porous monolith for uraemic toxins sorption.
Nanomaterials
, 11
(9)
, Article 2247. 10.3390/nano11092247.
|
|
|
Xu, H;
Liu, E;
Xie, J;
Smyth, RL;
Zhou, Q;
Zhao, R;
Zang, N;
... Li, Q; + view all
(2020)
A follow-up study of children infected with SARS-CoV-2 from western China.
Annals of translational medicine
, 8
(10)
10.21037/atm-20-3192.
|
|
Y
|
Yakici, Nalan;
Kreins, Alexandra Y;
Catak, Mehmet Cihangir;
Babayeva, Royala;
Erman, Baran;
Kenney, Heather;
Eke-Gungor, Hatice;
... Baris, Safa; + view all
(2023)
Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients” [Clinical Immunology 255 (2023) 109757].
[Corrigendum].
Clinical Immunology
, Article 109799. 10.1016/j.clim.2023.109799.
(In press).
|
|
Yakici, Nalan;
Kreins, Alexandra Y;
Catak, Mehmet Cihangir;
Babayeva, Royala;
Erman, Baran;
Kenney, Heather;
Gungor, Hatice Eke;
... Baris, Safa; + view all
(2023)
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clinical Immunology
, 255
, Article 109757. 10.1016/j.clim.2023.109757.
|
|
Yang, L;
Booth, C;
Speckmann, C;
Seidel, MG;
Worth, AJ;
Kindle, G;
Lankester, AC;
... Burns, SO; + view all
(2022)
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
Journal of Allergy and Clinical Immunology
, 150
(2)
pp. 456-466.
10.1016/j.jaci.2021.10.037.
|
|
Yang, Yangfan;
Jiang, Yuzhen;
Huang, Shitong;
Zhang, Xinyi;
Nathwani, Neil;
Lin, Mingkai;
Liu, Xing;
... Yu, Minbin; + view all
(2021)
Laser in Glaucoma and Ocular Hypertension Trial (LIGHT) in China - A Randomized Controlled Trial: Design and Baseline Characteristics.
American Journal of Ophthalmology
, 230
pp. 143-150.
10.1016/j.ajo.2021.04.020.
|
|
|
Yang, L;
Fujinami, K;
Ueno, S;
Kuniyoshi, K;
Hayashi, T;
Kondo, M;
Mizota, A;
... JEGC study group; + view all
(2020)
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Scientific Reports
, 10
(1)
, Article 5497. 10.1038/s41598-020-62119-3.
|
|
|
Yang, Y;
van der Klaauw, AA;
Zhu, L;
Cacciottolo, TM;
He, Y;
Stadler, LKJ;
Wang, C;
... Zhang, W; + view all
(2019)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Nature Communications
, 10
, Article 1718. 10.1038/s41467-019-08737-6.
|
|
|
Yap, ZY;
Efthymiou, S;
Seiffert, S;
Parra, KV;
Lee, S;
Nasca, A;
Maroofian, R;
... Yoon, WH; + view all
(2021)
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
American Journal of Human Genetics
, 108
(12)
pp. 2368-2384.
10.1016/j.ajhg.2021.11.003.
|
|
Yasin, SA;
Schutz, PW;
Deakin, CT;
Sag, E;
Varsani, H;
Simou, S;
Marshall, LR;
... UK Juvenile Dermatomyositis Research Group (UK-Ireland); + view all
(2019)
Histological heterogeneity in a large clinical cohort of juvenile idiopathic inflammatory myopathy: analysis by myositis autoantibody and pathological features.
Neuropathology and Applied Neurobiology
, 45
(5)
pp. 495-512.
10.1111/nan.12528.
|
|
|
Yeong, JL;
Thomas, P;
Buller, J;
Moosajee, M;
(2021)
A Newly Developed Web-Based Resource on Genetic Eye Disorders for Users With Visual Impairment (Gene.Vision): Usability Study.
Journal of Medical Internet Research
, 23
(1)
, Article e19151. 10.2196/19151.
|
|
|
Yin, N-H;
McCarthy, I;
Birch, HL;
(2021)
An equine tendon model for studying intra-tendinous shear in tendons that have more than one muscle contribution.
Acta Biomaterialia
, 127
pp. 205-212.
10.1016/j.actbio.2021.03.072.
|
|
Yong, Patrick F K;
Coulter, Tanya;
El-Shanwany, Tariq;
Garcez, Tomaz;
Hackett, Scott;
Jain, Rashmi;
Kiani-Alikhan, Sorena;
... Worth, Austen; + view all
(2023)
A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom.
Journal of Allergy and Clinical Immunology: In Practice
10.1016/j.jaip.2023.04.035.
(In press).
|
|
|
Yoshida, M;
Worlock, KB;
Huang, N;
Lindeboom, RGH;
Butler, CR;
Kumasaka, N;
Conde, CD;
... Meyer, KB; + view all
(2022)
Local and systemic responses to SARS-CoV-2 infection in children and adults.
Nature
, 602
pp. 321-327.
10.1038/s41586-021-04345-x.
|
|
Young, Fiona;
Aquilina, Kristian;
Clark, Chris A;
Clayden, Jonathan D;
(2022)
Fibre tract segmentation for intraoperative diffusion MRI in neurosurgical patients using tract-specific orientation atlas and tumour deformation modelling.
International Journal of Computer Assisted Radiology and Surgery
10.1007/s11548-022-02617-z.
|
|
Young, Fiona;
Aquilina, Kristian;
Seunarine, Kiran K;
Mancini, Laura;
Clark, Chris A;
Clayden, Jonathan D;
(2024)
Fibre orientation atlas guided rapid segmentation of white matter tracts.
Human Brain Mapping
, 45
(2)
, Article e26578. 10.1002/hbm.26578.
|
|
Young, MD;
Mitchell, TJ;
Braga, FAV;
Tran, MGB;
Stewart, BJ;
Ferdinand, JR;
Collord, G;
... Behjati, S; + view all
(2018)
Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors.
Science
, 361
(6402)
pp. 594-599.
10.1126/science.aat1699.
|
|
|
Young, MD;
Mitchell, TJ;
Custers, L;
Margaritis, T;
Morales-Rodriguez, F;
Kwakwa, K;
Khabirova, E;
... Behjati, S; + view all
(2021)
Single cell derived mRNA signals across human kidney tumors.
Nature Communications
, 12
, Article 3896. 10.1038/s41467-021-23949-5.
|
|
|
Young, RM;
Solis-Cascante, CJ;
Barriga-Fehrman, A;
Abogabir, C;
Thadani, AR;
Labarca, M;
Bustamante, E;
... Quiñones, LA; + view all
(2021)
Smartphone Screen Testing, a novel pre-diagnostic method to identify SARS-CoV-2 infectious individuals.
eLife
, 10
10.7554/elife.70333.
(In press).
|
 |
|
Yu-Wai-Man, C;
Arno, G;
Brookes, J;
Garcia-Feijoo, J;
Khaw, PT;
Moosajee, M;
(2018)
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
European Journal of Human Genetics
, 26
pp. 1713-1718.
10.1038/s41431-018-0227-y.
|
|
Yu-Wai-Man, P;
Newman, NJ;
Carelli, V;
La Morgia, C;
Biousse, V;
Bandello, FM;
Clermont, CV;
... LHON REALITY Study Group, .; + view all
(2021)
Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.
Eye
10.1038/s41433-021-01535-9.
(In press).
|
|
Z
|
Zagaglia, S;
Steel, D;
Krithika, S;
Hernandez-Hernandez, L;
Custodio, HM;
Gorman, KM;
Vezyroglou, A;
... Kurian, MA; + view all
(2021)
RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood.
Neurology
, 96
(11)
e1539-e1550.
10.1212/WNL.0000000000011543.
|
|
Zaharieva, Irina T;
Scoto, Mariacristina;
Aragon‐Gawinska, Karolina;
Ridout, Deborah;
Doreste, Bruno;
Servais, Laurent;
Muntoni, Francesco;
(2022)
Response of plasma microRNAs
to nusinersen treatment in patients with
SMA.
Annals of Clinical and Translational Neurology
10.1002/acn3.51579.
|
|
Zaharieva, IT;
Sarkozy, A;
Munot, P;
Manzur, A;
O'Grady, G;
Rendu, J;
Malfatti, E;
... Muntoni, F; + view all
(2018)
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Human Mutation
, 39
(12)
pp. 1980-1994.
10.1002/humu.23635.
|
|
Zambaiti, E;
Scottoni, F;
Rizzi, E;
Russo, S;
Deguchi, K;
Eaton, S;
Pellegata, AF;
(2019)
Whole rat stomach decellularisation using a detergent-enzymatic protocol.
Whole rat stomach decellularisation using a detergent-enzymatic protocol
, 35
(1)
pp. 21-27.
10.1007/s00383-018-4372-8.
|
|
Zambon, Alberto A;
Pini, Veronica;
Bosco, Luca;
Falzone, Yuri M;
Munot, Pinki;
Muntoni, Francesco;
Previtali, Stefano C;
(2023)
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain
, 146
(3)
pp. 806-822.
10.1093/brain/awac452.
|
|
Zambon, Alberto A;
Trucco, Federica;
Laverty, Aidan;
Riley, Mollie;
Ridout, Deborah;
Manzur, Adnan Y;
Abel, Francois;
(2022)
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy.
Neurology
, 99
(12)
E1216-E1226.
10.1212/WNL.0000000000200932.
|
|
Zambon, AA;
Pitt, M;
Laurà, M;
Polke, JM;
Reilly, MM;
Muntoni, F;
(2020)
A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Journal of the Peripheral Nervous System
, 25
(3)
pp. 303-307.
10.1111/jns.12386.
|
|
|
Zambon, AA;
Ridout, D;
Main, M;
Mein, R;
Phadke, R;
Muntoni, F;
Sarkozy, A;
(2020)
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Annals of Clinical and Translational Neurology
, 7
(10)
pp. 18870-1882.
10.1002/acn3.51172.
|
|
|
Zappa, G;
LoMauro, A;
Baranello, G;
Cavallo, E;
Corti, P;
Mastella, C;
Costantino, MA;
(2021)
Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1.
Journal of Neurodevelopmental Disorders
, 13
, Article 9. 10.1186/s11689-021-09355-4.
|
|
|
Zarakoviti, E;
Shafran, R;
Papadimitriou, D;
Bennett, S;
(2021)
The Efficacy of Parent Training Interventions for Disruptive Behavior Disorders in Treating Untargeted Comorbid Internalizing Symptoms in Children and Adolescents: A Systematic Review.
Clinical Child and Family Psychology Review
, 24
(3)
pp. 542-552.
10.1007/s10567-021-00349-1.
|
|
|
Zecchin, Davide;
Knöpfel, Nicole;
Gluck, Anna K;
Stevenson, Mark;
Sauvadet, Aimie;
Polubothu, Satyamaanasa;
Barberan-Martin, Sara;
... Kinsler, Veronica A; + view all
(2023)
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Journal of Investigative Dermatology
10.1016/j.jid.2023.08.028.
(In press).
|
|
|
Zech, M;
Kumar, KR;
Reining, S;
Reunert, J;
Tchan, M;
Riley, LG;
Drew, AP;
... Boesch, S; + view all
(2021)
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Movement Disorders
10.1002/mds.28804.
(In press).
|
|
|
Zeitlinger, M;
Koch, BCP;
Bruggemann, R;
De Cock, P;
Felton, T;
Hites, M;
Le, J;
... PK/PD of Anti-Infectives Study Group (EPASG) of the European Soc; + view all
(2020)
Pharmacokinetics/Pharmacodynamics of Antiviral Agents Used to Treat SARS-CoV-2 and Their Potential Interaction with Drugs and Other Supportive Measures: A Comprehensive Review by the PK/PD of Anti-Infectives Study Group of the European Society of Antimicrobial Agents.
Clinical Pharmacokinetics
10.1007/s40262-020-00924-9.
(In press).
|
|
|
Zhang, G;
Fu, DJ;
Liefers, B;
Faes, L;
Glinton, S;
Wagner, S;
Struyven, R;
... Balaskas, K; + view all
(2021)
Clinically relevant deep learning for detection and quantification of geographic atrophy from optical coherence tomography: a model development and external validation study.
The Lancet Digital Health
, 3
(10)
e665-e675.
10.1016/S2589-7500(21)00134-5.
|
|
|
Zhang, M;
Wang, E;
Yecies, D;
Tam, LT;
Han, M;
Toescu, S;
Wright, JN;
... Yeom, KW; + view all
(2022)
Radiomic signatures of posterior fossa ependymoma: Molecular subgroups and risk profiles.
Neuro-Oncology
, 24
(6)
pp. 986-994.
10.1093/neuonc/noab272.
|
|
Zhang, Zhenguang;
Kean, Iain RL;
Dratva, Lisa M;
Clark, John A;
Syrimi, Eleni;
Khan, Naeem;
Daubney, Esther;
... Pathan, Nazima; + view all
(2024)
Enhanced CD95 and interleukin 18 signalling
accompany T cell receptor Vβ21.3+
activation in multi-inflammatory syndrome
in children.
Nature Communications
, 15
, Article 4227. 10.1038/s41467-024-48699-y.
|
|
Zhao, T;
Siu, I-M;
Williamson, T;
Zhang, H;
Ji, C;
Burger, PC;
Connis, N;
... Gallia, GL; + view all
(2021)
AZD8055 enhances in vivo efficacy of afatinib in chordomas.
The Journal of Pathology
, 255
(1)
pp. 72-83.
10.1002/path.5739.
|
|
|
Zheng, J;
Zhao, H;
Dong, E;
Kang, J;
Liu, C;
Sun, C;
Li, D;
(2021)
Additively-manufactured PEEK/HA porous scaffolds with highly-controllable mechanical properties and excellent biocompatibility.
Materials Science and Engineering: C
, 128
, Article 112333. 10.1016/j.msec.2021.112333.
|
|
Zhou, Haiyan;
Hong, Ying;
Scoto, Mariacristina;
Thomson, Alison;
Pead, Emma;
MacGillivray, Tom;
Hernandez-Gerez, Elena;
... Muntoni, Francesco; + view all
(2022)
Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect.
Journal of Clinical Investigation
, 132
(21)
, Article e153430. 10.1172/JCI153430.
|
|
Zhou, J;
Azizan, EAB;
Cabrera, CP;
Fernandes-Rosa, FL;
Boulkroun, S;
Argentesi, G;
Cottrell, E;
... Brown, MJ; + view all
(2021)
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Nature Genetics
, 53
pp. 1360-1372.
10.1038/s41588-021-00906-y.
|
|
Zhou, H;
Meng, J;
Malerba, A;
Catapano, F;
Sintusek, P;
Jarmin, S;
Feng, L;
... Muntoni, F; + view all
(2020)
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12542.
(In press).
|
|
Zhou, H;
Muntoni, F;
(2020)
The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al .
[Letter].
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12608.
(In press).
|
|
|
Zimmer, J;
Eaton, S;
Murchison, LE;
Ure, BM;
Dingemann, C;
(2019)
State of Play: Eight Decades of Surgery for Esophageal Atresia.
European Journal of Pediatric Surgery
, 29
(1)
pp. 39-48.
10.1055/s-0038-1668150.
|
|
Zormpas-Petridis, K;
Jerome, NP;
Blackledge, MD;
Carceller, F;
Poon, E;
Clarke, M;
McErlean, CM;
... Jamin, Y; + view all
(2019)
MRI Imaging of the Hemodynamic Vasculature of Neuroblastoma Predicts Response to Antiangiogenic Treatment.
Cancer Research
, 79
(11)
pp. 2978-2991.
10.1158/0008-5472.CAN-18-3412.
|
|
Zorzan, I;
Pellegrini, M;
Arboit, M;
Incarnato, D;
Maldotti, M;
Forcato, M;
Tagliazucchi, GM;
... Martello, G; + view all
(2020)
The transcriptional regulator ZNF398 mediates pluripotency and epithelial character downstream of TGF-beta in human PSCs.
Nature Communications
, 11
(1)
, Article 2364. 10.1038/s41467-020-16205-9.
|
|
|
Zou, X;
Koh, GCC;
Nanda, AS;
Degasperi, A;
Urgo, K;
Roumeliotis, TI;
Agu, CA;
... Nik-Zainal, S; + view all
(2021)
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Nature Cancer
, 2
(6)
pp. 643-657.
10.1038/s43018-021-00200-0.
|
|
Zou, J;
Thornton, C;
Chambers, E;
Rosser, E;
Ciurtin, C;
(2021)
Exploring the evidence for an immunomodulatory role of vitamin D in juvenile and adult rheumatic disease.
Frontiers in Immunology
, 11
, Article 616483. 10.3389/fimmu.2020.616483.
|
|
|
Zoumpoulidou, G;
Alvarez-Mendoza, C;
Mancusi, C;
Ahmed, R-M;
Denman, M;
Steele, CD;
Tarabichi, M;
... Mittnacht, S; + view all
(2021)
Therapeutic vulnerability to PARP1,2 inhibition in RB1-mutant osteosarcoma.
Nature Communications
, 12
(1)
, Article 7064. 10.1038/s41467-021-27291-8.
|
|
|
Zourray, Clara;
Kurian, Manju A;
Barral, Serena;
Lignani, Gabriele;
(2022)
Electrophysiological Properties of Human Cortical Organoids: Current State of the Art and Future Directions.
Frontiers in Molecular Neuroscience
, 15
, Article 839366. 10.3389/fnmol.2022.839366.
|
|
|
Zozaya, Carlos;
Ganji, Niloofar;
Li, Bo;
Janssen Lok, Maarten;
Lee, Carol;
Koike, Yuhki;
Gauda, Estelle;
... Pierro, Agostino; + view all
(2023)
Remote ischaemic conditioning in necrotising enterocolitis: a phase I feasibility and safety study.
Archives of Disease in Childhood - Fetal and Neonatal Edition
, 108
(1)
F69-F76.
10.1136/archdischild-2022-324174.
|
|
Zuberi, Sameer M;
Wirrell, Elaine;
Yozawitz, Elissa;
Wilmshurst, Jo M;
Specchio, Nicola;
Riney, Kate;
Pressler, Ronit;
... Nabbout, Rima; + view all
(2022)
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
10.1111/epi.17239.
|
|
Zucchelli, E;
Birchall, M;
Bulstrode, NW;
Ferretti, P;
(2020)
Modeling Normal and Pathological Ear Cartilage in vitro Using Somatic Stem Cells in Three-Dimensional Culture.
Frontiers in Cell and Developmental Biology
, 8
, Article 666. 10.3389/fcell.2020.00666.
|
|
|
Zylbersztejn, A;
Almossawi, O;
Gudka, N;
Tompsett, D;
De Stavola, B;
Standing, JF;
Smyth, R;
(2022)
Access to palivizumab among children at high risk of respiratory syncytial virus complications in English hospitals.
British Journal of Clinical Pharmacology
, 88
(3)
pp. 1246-1257.
10.1111/bcp.15069.
|
Ş
|
Şenyürek, S Aysima;
Ajami, Sara;
Ruggiero, Federica;
Van de Lande, Lara;
Caron, Cornelia JJM;
Schievano, Silvia;
Dunaway, David J;
... Borghi, Alessandro; + view all
(2023)
The Accuracy of Computer-Assisted Surgical Planning in Predicting Soft Tissue Responses After Le Fort I Osteotomy: Retrospective Analysis.
The Journal of Craniofacial Surgery
, 34
(1)
pp. 131-138.
10.1097/SCS.0000000000008970.
|
|
