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Number of items: 153.
A
Ades, AE;
Soriano-Arandes, A;
Alarcon, A;
Bonfante, F;
Thorne, C;
Peckham, CS;
Giaquinto, C;
(2020)
Vertical transmission of Zika virus and its outcomes: a Bayesian synthesis of prospective studies.
The Lancet Infectious Diseases
10.1016/S1473-3099(20)30432-1.
(In press).
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Ades, AE;
Thorne, C;
Soriano-Arandes, A;
Peckham, CS;
Brown, DW;
Lang, D;
Morris, JG;
... Giaquinto, C; + view all
(2020)
Researching Zika in pregnancy: lessons for global preparedness.
The Lancet Infectious Diseases
, 20
(4)
E61-E68.
10.1016/S1473-3099(20)30021-9.
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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.
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Alatzoglou, KS;
Gregory, LC;
Dattani, M;
(2020)
Development of the Pituitary Gland.
Comprehensive Physiology
, 10
(2)
pp. 389-413.
10.1002/cphy.c150043.
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Altmann, A;
Cash, DM;
Bocchetta, M;
Heller, C;
Reynolds, R;
Moore, K;
Convery, RS;
... Rohrer, JD; + view all
(2020)
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
Brain Communications
10.1093/braincomms/fcaa122.
(In press).
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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.
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B
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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.
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Baruteau, J;
Gurung, S;
Perocheau, D;
Counsell, J;
(2020)
Gene therapy for inherited metabolic diseases.
Journal of Mother and Child
, 24
(2)
10.34763/jmotherandchild.20202402si.2004.000009.
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Belsten, J;
Werring, DJ;
Jones, H;
Heales, S;
Pope, S;
(2020)
Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction?
Journal of the Neurological Sciences
, 414
, Article 116856. 10.1016/j.jns.2020.116856.
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Bilip, M;
Shah, S;
Mathiyalakan, M;
Tagalakis, A;
Hart, SL;
Maeshima, R;
Eaton, S;
... Stoker, AW; + view all
(2020)
Liposomal delivery of hydrophobic RAMBAs provides good bioavailability and significant enhancement of retinoic acid signalling in neuroblastoma tumour cells.
Journal of Drug Targeting
10.1080/1061186X.2019.1710157.
(In press).
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Boyd, AC;
Guo, S;
Huang, L;
Kerem, B;
Oren, YS;
Walker, AJ;
Hart, SL;
(2020)
New approaches to genetic therapies for cystic fibrosis.
Journal of Cystic Fibrosis
, 19
(S1)
S54-S59.
10.1016/j.jcf.2019.12.012.
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Bryant, D;
Seda, M;
Peskett, E;
Maurer, C;
Pomeranz, G;
Ghosh, M;
Hawkins, TA;
... Stanier, P; + view all
(2020)
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Scientific Reports
, 10
(1)
, Article 13763. 10.1038/s41598-020-70797-2.
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Buonocore, F;
Achermann, JC;
(2020)
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
[Review].
Clinical Endocrinology
, 92
(1)
pp. 11-20.
10.1111/cen.14109.
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Buonocore, F;
McGlacken-Byrne, SM;
Del Valle, I;
Achermann, JC;
(2020)
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.
Frontiers in Pediatrics
, 8
, Article 619041. 10.3389/fped.2020.619041.
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Burke, D;
Heales, S;
(2020)
Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains.
[Letter].
Journal of the Neurological Sciences
, 418
, Article 117097. 10.1016/j.jns.2020.117097.
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Butz, ES;
Chandrachud, U;
Mole, SE;
Cotman, SL;
(2020)
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1866
(9)
, Article 165571. 10.1016/j.bbadis.2019.165571.
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C
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Captur, G;
Heywood, WE;
Coats, C;
Rosmini, S;
Patel, V;
Lopes, LR;
Collis, R;
... Mills, K; + view all
(2020)
Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy using Quantitative Proteomics and Machine Learning.
Molecular & Cellular Proteomics
, 19
(1)
pp. 114-127.
10.1074/mcp.RA119.001586.
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Cave, A;
Plumptre, I;
Mellerio, JE;
Martinez, AE;
Kinsler, VA;
(2020)
The adverse effect profile of acitretin in a pediatric dermatology population-Longitudinal cohort study and recommendations for monitoring.
Journal of the American Academy of Dermatology
10.1016/j.jaad.2020.03.082.
(In press).
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Cerbone, M;
Güemes, M;
Wade, A;
Improda, N;
Dattani, M;
(2020)
Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders.
EClinicalMedicine
10.1016/j.eclinm.2019.11.017.
(In press).
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Chen, Z;
Ryten, M;
Houlden, H;
(2020)
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.
Annals of Clinical and Translational Neurology
, 7
(12)
pp. 2544-2545.
10.1002/acn3.51222.
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Chen, Z;
Yan Yau, W;
Jaunmuktane, Z;
Tucci, A;
Sivakumar, P;
Gagliano Taliun, SA;
Turner, C;
... Houlden, H; + view all
(2020)
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1716-1725.
10.1002/acn3.51151.
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Chen, Y-H;
Eskandarpour, M;
Gondrand, A;
Zhang, X;
Gu, R;
Galatowicz, G;
Lightman, SL;
(2020)
Functionally distinct IFN-γ⁺ IL-17A⁺ Th cells in experimental autoimmune uveitis: T-cell heterogeneity, migration, and steroid response.
European Journal of Immunology
10.1002/eji.202048616.
(In press).
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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.
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Clayton, P;
Tuschl, K;
(2020)
Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders.
In: Ebrahimi-Fakhari, D and Pearl, P, (eds.)
Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes.
(pp. 230-243).
Cambridge University Press: Cambridge, UK.
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Clayton, PT;
(2020)
Is susceptibility to severe COVID-19 disease an inborn error of metabolism?
[Letter].
Journal of Inherited Metabolic Disease
, 43
(5)
pp. 906-907.
10.1002/jimd.12280.
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Cooper, JD;
Mole, SE;
(2020)
Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1866
(9)
, Article 165681. 10.1016/j.bbadis.2020.165681.
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Costa, B;
Manzoni, C;
Bernal-Quiros, M;
Kia, D;
Aguilar, M;
Alvarez, I;
Alvarez, V;
... Hardy, J; + view all
(2020)
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
Neurology
, 95
(24)
e3288-e3302.
10.1212/WNL.0000000000010914.
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COVID-19 Genomics UK (COG-UK);
(2020)
An integrated national scale SARS-CoV-2 genomic surveillance network.
The Lancet Microbe
, 1
(3)
e99-e100.
10.1016/S2666-5247(20)30054-9.
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Cuomo, ASE;
Seaton, DD;
McCarthy, DJ;
Martinez, I;
Bonder, MJ;
Garcia-Bernardo, J;
Amatya, S;
... Stegle, O; + view all
(2020)
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression.
Nature Communications
, 11
(1)
p. 810.
10.1038/s41467-020-14457-z.
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D
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Dabbeek, J;
Silva, V;
Galasso, C;
Smith, A;
(2020)
Probabilistic earthquake and flood loss assessment in the Middle East.
International Journal of Disaster Risk Reduction
, 49
, Article 101662. 10.1016/j.ijdrr.2020.101662.
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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).
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Doreste, B;
Torelli, S;
Morgan, J;
(2020)
Irradiation dependent inflammatory response may enhance satellite cell engraftment.
Scientific Reports
, 10
, Article 11119. 10.1038/s41598-020-68098-9.
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Doykov, I;
Hällqvist, J;
Gilmour, KC;
Grandjean, L;
Mills, K;
Heywood, WE;
(2020)
'The long tail of Covid-19' - The detection of a prolonged inflammatory response after a SARS-CoV-2 infection in asymptomatic and mildly affected patients [version 1; peer review: awaiting peer review].
F1000Research
, 9
, Article 1349. 10.12688/f1000research.27287.1.
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E
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Engel, J;
Schwartz, E;
Catlow, CRA;
Roldan, A;
(2020)
The influence of oxygen vacancy and Ce3+ ion positions on the properties of small gold clusters supported on CeO2-x(111).
Journal of Materials Chemistry A
, 8
(31)
pp. 15695-15705.
10.1039/d0ta01398f.
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F
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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.
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Freeman, TM;
Wang, D;
Harris, J;
Ambrose, JC;
Arumugam, P;
Baple, EL;
Bleda, M;
... Zarowiecki, M; + view all
(2020)
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.
Genome Research
, 30
(3)
pp. 415-426.
10.1101/gr.255349.119.
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Freke, Grace Mercedes;
(2020)
Probing the Role(s) of Bbs1 with CRISPR/Cas9 Gene Editing.
Doctoral thesis (Ph.D), UCL (University College London).
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Fulop, N;
Capelas Barbosa, E;
Hill, M;
Ledger, J;
Ng, PL;
Sherlaw-Johnson, C;
Rolewicz, L;
+ view all
(2020)
Rapid Evaluation of the Special Measures for Quality and Challenged Provider Regimes: A Mixed-Methods Study.
National Institute for Health Research: NIHR Journals Library.
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Fulop, N;
Capelas Barbosa, E;
Hill, M;
Ledger, J;
Sherlaw-Johnson, C;
Spencer, J;
Vindrola, C;
(2020)
Special Measures for Quality and Challenged Providers: Study Protocol for Evaluating the Impact of Improvement Interventions in NHS Trusts.
International Journal of Health Policy and Management
, 9
(4)
pp. 143-151.
10.15171/ijhpm.2019.100.
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G
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Galazzi, E;
Improda, N;
Cerbone, M;
Soranna, D;
Moro, M;
Fatti, LM;
Zambon, A;
... Persani, L; + view all
(2020)
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 centers.
Clinical Endocrinology
10.1111/cen.14337.
(In press).
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Gao, E;
Cheema, H;
Waheed, N;
Mushtaq, I;
Erden, N;
Nelson-Williams, C;
Jain, D;
... Vilarinho, S; + view all
(2020)
OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.
Hepatology
, 71
(5)
pp. 1879-1882.
10.1002/hep.31087.
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Gao, Y;
Wang, T;
Yu, X;
International FTD-Genomics Consortium (IFGC);
Zhao, H;
Zeng, P;
(2020)
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis.
Scientific Reports
, 10
, Article 12184. 10.1038/s41598-020-68848-9.
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Gardner, LE;
Horton, KL;
Shoemark, A;
Lucas, JS;
Nielsen, KG;
Kobbernagel, H;
Rubbo, B;
... Hogg, C; + view all
(2020)
Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School.
In:
BMC Proceedings.
Springer Nature: Poznań, Poland.
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Ghosh, R;
Wood-Kaczmar, A;
Dobson, L;
Smith, EJ;
Sirinathsinghji, EC;
Kriston-Vizi, J;
Hargreaves, IP;
... Tabrizi, SJ; + view all
(2020)
Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction.
FASEB Journal
10.1096/fj.201902277RR.
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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).
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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).
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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.
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Gregory, LC;
Dattani, MT;
(2020)
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Journal of Clinical Endocrinology & Metabolism
, 105
(6)
e2103-e2120.
10.1210/clinem/dgz184.
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Guelfi, S;
D'Sa, K;
Botía, JA;
Vandrovcova, J;
Reynolds, RH;
Zhang, D;
Trabzuni, D;
... Ryten, M; + view all
(2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Nature Communications
, 11
, Article 1041. 10.1038/s41467-020-14483-x.
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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.
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H
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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).
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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.
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Heaton, RA;
Heales, S;
Rahman, K;
Sexton, DW;
Hargreaves, I;
(2020)
The Effect of Cellular Coenzyme Q(10) Deficiency on Lysosomal Acidification.
Journal Of Clinical Medicine
, 9
(6)
, Article 1923. 10.3390/jcm9061923.
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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).
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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.
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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.
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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).
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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.
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I
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Irving, E;
Tagalakis, AD;
Maeshima, R;
Hart, SL;
Eaton, S;
Lehtonen, A;
Stoker, AW;
(2020)
The liposomal delivery of hydrophobic oxidovanadium complexes imparts highly effective cytotoxicity and differentiating capacity in neuroblastoma tumour cells.
Scientific Reports
, 10
(1)
, Article 16660. 10.1038/s41598-020-73539-6.
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J
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Juban, G;
Sakakini, N;
Chagraoui, H;
Cruz Hernandez, D;
Cheng, Q;
Soady, K;
Stoilova, B;
... Vyas, P; + view all
(2020)
Oncogenic Gata1 Causes Stage-Specific Megakaryocyte Differentiation Delay.
Haematologica
10.3324/haematol.2019.244541.
(In press).
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K
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Kallali, W;
Gray, E;
Mehdi, MZ;
Lindsay, RS;
Metherell, LA;
Buonocore, F;
Suntharalingham, JP;
... Donaldson, M; + view all
(2020)
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
European Journal of Endocrinology
10.1530/EJE-19-0696.
(In press).
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Kaplanis, J;
Samocha, KE;
Wiel, L;
Zhang, Z;
Arvai, KJ;
Eberhardt, RY;
Gallone, G;
... Retterer, K; + view all
(2020)
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
, 586
(7831)
pp. 757-762.
10.1038/s41586-020-2832-5.
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Karda, R;
Rahim, AA;
Wong, AMS;
Suff, N;
Diaz, JA;
Perocheau, DP;
Tijani, M;
... Waddington, SN; + view all
(2020)
Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors.
Scientific Reports
, 10
(1)
, Article 2121. 10.1038/s41598-020-59075-3.
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Keller, N;
Mendoza-Ferreira, N;
Maroofian, R;
Chelban, V;
Khalil, Y;
Mills, PB;
Boostani, R;
... Karakaya, M; + view all
(2020)
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromuscular Disorders
, 30
(7)
pp. 583-589.
10.1016/j.nmd.2020.04.004.
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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.
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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).
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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
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