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Number of items: 155.
Article
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Abdel-Khalik, J;
Hearn, T;
Dickson, AL;
Crick, PJ;
Yutuc, E;
Austin-Muttit, K;
Bigger, BW;
... Wang, Y; + view all
(2021)
Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates.
The Journal of Steroid Biochemistry and Molecular Biology
, 206
, Article 105794. 10.1016/j.jsbmb.2020.105794.
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Ahmed, SF;
Achermann, JC;
Alderson, J;
Crouch, NS;
Elford, S;
Hughes, IA;
Krone, NP;
... Turner, HE; + view all
(2021)
Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021).
Clinical Endocrinology
10.1111/cen.14528.
(In press).
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Alrashidi, H;
Eaton, S;
Heales, S;
(2021)
Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease.
Neurochemistry International
, 145
, Article 105009. 10.1016/j.neuint.2021.105009.
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Altmann, A;
Ryten, M;
Di Nunzio, M;
Ravizza, T;
Tolomeo, D;
Reynolds, RH;
Somani, A;
... Sisodiya, SM; + view all
(2021)
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathology and Applied Neurobiology
10.1111/nan.12758.
(In press).
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Andersen, MS;
Bandres-Ciga, S;
Reynolds, RH;
Hardy, J;
Ryten, M;
Krohn, L;
Gan-Or, Z;
... Pihlstrøm, L; + view all
(2021)
Heritability enrichment implicates microglia in Parkinson's disease pathogenesis.
Annals of Neurology
, 89
(5)
pp. 942-951.
10.1002/ana.26032.
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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.
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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.
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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.
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Backeljauw, P;
Cappa, M;
Kiess, W;
Law, L;
Cookson, C;
Sert, C;
Whalen, J;
(2021)
Impact of short stature on quality of life: A systematic literature review.
Growth Hormone and IGF Research
, 57-58
, Article 101392. 10.1016/j.ghir.2021.101392.
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Baldelli, L;
Schade, S;
Jesús, S;
Schreglmann, SR;
Sambati, L;
Gómez-Garre, P;
Halsband, C;
... Provini, F; + view all
(2021)
Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients.
npj Parkinson's Disease
, 7
, Article 78. 10.1038/s41531-021-00219-1.
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Baltas, I;
Boshier, FAT;
Williams, CA;
Bayzid, N;
Cotic, M;
Guerra-Assunção, JA;
Irish-Tavares, D;
... Mahungu, TW; + view all
(2021)
Post-vaccination COVID-19: A case-control study and genomic analysis of 119 breakthrough infections in partially vaccinated individuals.
Clinical Infectious Diseases
, Article ciab714. 10.1093/cid/ciab714.
(In press).
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Barile, A;
Mills, P;
di Salvo, ML;
Graziani, C;
Bunik, V;
Clayton, P;
Contestabile, R;
(2021)
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5 '-Phosphate Oxidase-Dependent Epilepsy.
International Journal of Molecular Sciences
, 22
(21)
, Article 12013. 10.3390/ijms222112013.
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Baruteau, J;
Cunningham, SC;
Yilmaz, BS;
Perocheau, DP;
Eaglestone, S;
Burke, D;
Thrasher, AJ;
... Gissen, P; + view all
(2021)
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.
Molecular Therapy - Methods & Clinical Development
, 23
pp. 135-146.
10.1016/j.omtm.2021.09.005.
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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.
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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.
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Blauwendraat, C;
Iwaki, H;
Makarious, MB;
Bandres-Ciga, S;
Leonard, H;
Grenn, FP;
Lake, J;
... Lynch, TL; + view all
(2021)
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Annals of Neurology
, 90
(1)
pp. 35-42.
10.1002/ana.26090.
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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.
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Bremova-Ertl, T;
Claassen, J;
Foltan, T;
Gascon-Bayarri, J;
Gissen, P;
Hahn, A;
Hassan, A;
... Schneider, SA; + view all
(2021)
Efficacy and safety of N-acetyl-L-leucine in Niemann–Pick disease type C.
Journal of Neurology
10.1007/s00415-021-10717-0.
(In press).
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Buonocore, F;
Maharaj, A;
Qamar, Y;
Koehler, K;
Suntharalingham, JP;
Chan, LF;
Ferraz-de-Souza, B;
... Achermann, JC; + view all
(2021)
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK.
Journal of the Endocrine Society
, 5
(8)
, Article bvab086. 10.1210/jendso/bvab086.
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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).
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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.
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Chen, Z;
Maroofian, R;
Başak, AN;
Shingavi, L;
Karakaya, M;
Efthymiou, S;
Gustavsson, EK;
... Sarraf, P; + view all
(2021)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European Journal of Neurology
, 28
(4)
pp. 1344-1355.
10.1111/ene.14649.
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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.
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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.
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Collier, DA;
De Marco, A;
Ferreira, IATM;
Meng, B;
Datir, RP;
Walls, AC;
Kemp, SA;
... Gupta, RK; + view all
(2021)
Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies.
Nature
, 593
pp. 136-141.
10.1038/s41586-021-03412-7.
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Collier, JJ;
Guissart, C;
Oláhová, M;
Sasorith, S;
Piron-Prunier, F;
Suomi, F;
Zhang, D;
... Taylor, RW; + view all
(2021)
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
New England Journal of Medicine
, 384
(25)
pp. 2406-2417.
10.1056/NEJMoa1915722.
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Colmenero, Isabel;
Knöpfel, Nicole;
(2021)
Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.
Dermatopathology
, 8
(4)
pp. 477-493.
10.3390/dermatopathology8040050.
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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.
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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.
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Coutant, R;
Bosch Munoz, J;
Dumitrescu, CP;
Schnabel, D;
Sert, C;
Perrot, V;
Dattani, M;
(2021)
Effectiveness and Overall Safety of NutropinAq (R) for Growth Hormone Deficiency and Other Paediatric Growth Hormone Disorders: Completion of the International Cooperative Growth Study, NutropinAq (R) European Registry (iNCGS).
Frontiers in Endocrinology
, 12
, Article 676083. 10.3389/fendo.2021.676083.
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Cozmescu, CA;
Gissen, P;
(2021)
Rab35 controls formation of luminal projections required for bile canalicular morphogenesis.
Journal of Cell Biology
, 220
(10)
, Article e202108047. 10.1083/jcb.202108047.
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de Silva, TI;
Liu, G;
Lindsey, BB;
Dong, D;
Moore, SC;
Hsu, NS;
Shah, D;
... Dong, T; + view all
(2021)
The impact of viral mutations on recognition by SARS-CoV-2 specific T cells.
iScience
, 24
(11)
, Article 103353. 10.1016/j.isci.2021.103353.
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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.
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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.
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Doykov, I;
Hällqvist, J;
Gilmour, KC;
Grandjean, L;
Mills, K;
Heywood, WE;
(2021)
‘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 2; peer review: 2 approved].
F1000Research
, 9
, Article 1349. 10.12688/f1000research.27287.2.
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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.
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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.
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Fairbrother-Browne, A;
Ali, AT;
Reynolds, RH;
Garcia-Ruiz, S;
Zhang, D;
Chen, Z;
Ryten, M;
(2021)
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
Communications Biology
, 4
(1)
, Article 1262. 10.1038/s42003-021-02792-w.
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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).
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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.
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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.
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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.
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Gardner, E;
Mole, SE;
(2021)
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Frontiers in Neurology
, 12
, Article 754045. 10.3389/fneur.2021.754045.
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Giram, Prabhanjan S;
Wang, Julie Tzu-Wen;
Walters, Adam A;
Rade, Priyanka P;
Akhtar, Muhammad;
Han, Shunping;
Faruqu, Farid N;
... Al-Jamal, Khuloud T; + view all
(2021)
Green synthesis of methoxy-poly(ethylene glycol)-
block-poly(L-lactide-co-glycolide) copolymer
using zinc proline as a biocompatible initiator for
irinotecan delivery to colon cancer in vivo.
Biomaterials Science
, 9
(3)
pp. 795-806.
10.1039/d0bm01421d.
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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.
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Graham, C;
Hart, S;
(2021)
CRISPR/Cas9 gene editing therapies for cystic fibrosis.
Expert Opinion on Biological Therapy
, 21
(6)
pp. 767-780.
10.1080/14712598.2021.1869208.
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Graham, MS;
Sudre, CH;
May, A;
Antonelli, M;
Murray, B;
Varsaysky, T;
Klaser, K;
... Ourselin, S; + view all
(2021)
Changes in symptomatology, reinfection, and transmissibility associated with the SARS-CoV-2 variant B.1.1.7: an ecological study.
Lancet Public Health
, 6
(5)
E335-E345.
10.1016/S2468-2667(21)00055-4.
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Gregory, LC;
Gergics, P;
Nakaguma, M;
Bando, H;
Patti, G;
McCabe, MJ;
Fang, Q;
... Dattani, MT; + view all
(2021)
The phenotypic spectrum associated with OTX2 mutations in humans.
European Journal of Endocrinology
, 185
(1)
pp. 121-135.
10.1530/EJE-20-1453.
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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.
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Guerra-Assunção, José Afonso;
van Kampen, Jeroen JA;
Roy, Sunando;
Remeijer, Lies;
Breuer, Judy;
Verjans, Georges MGM;
(2021)
Cluster of Symptomatic Graft-to-Host Transmission of Herpes Simplex Virus Type 1 in an Endothelial Keratoplasty Setting.
Ophthalmology Science
, 1
(3)
, Article 100051. 10.1016/j.xops.2021.100051.
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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.
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Hage, C;
Gan, H-W;
Ibba, A;
Patti, G;
Dattani, M;
Loche, S;
Maghnie, M;
(2021)
Advances in differential diagnosis and management of growth hormone deficiency in children.
Nature Reviews Endocrinology
, 17
(10)
pp. 608-624.
10.1038/s41574-021-00539-5.
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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).
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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).
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Heywood, WE;
Bliss, E;
Bahelil, F;
Cyrus, T;
Crescente, M;
Jones, T;
Iqbal, S;
... Ackland, GL; + view all
(2021)
Proteomic signatures for perioperative oxygen delivery in skin after major elective surgery: mechanistic sub-study of a randomised controlled trial.
British Journal of Anaesthesia
, 127
(4)
pp. 511-520.
10.1016/j.bja.2021.06.003.
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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.
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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).
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Hitay İnan, A;
Şeker Yılmaz, B;
Bulut, FD;
Kılavuz, S;
Kor, D;
Karakaş, M;
Önenli Mungan, HN;
(2021)
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
The Journal of Pediatric Research
, 8
(2)
pp. 206-208.
10.4274/jpr.galenos.2020.82621.
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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.
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Iwan, Katharina;
Patel, Nina;
Heslegrave, Amanda;
Borisova, Mina;
Lee, Laura;
Bower, Rebecca;
Mole, Sara E;
... Heywood, Wendy E; + view all
(2021)
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
F1000Research
, 10
, Article 614. 10.12688/f1000research.54556.2.
|
|
|
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.
|
|
|
Iwan, K;
Patel, N;
Heslegrave, A;
Borisova, M;
Lee, L;
Bower, R;
Mole, SE;
... Heywood, WE; + view all
(2021)
Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 1; peer review: 1 approved with reservations].
F1000Research
, 10
, Article 614. 10.12688/f1000research.54556.1.
|
|
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.
|
|
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.
|
|
Jeyaraj, R;
Bounford, KM;
Ruth, N;
Lloyd, C;
MacDonald, F;
Hendriksz, CJ;
Baumann, U;
... Kelly, D; + view all
(2021)
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Genes
, 12
(11)
, Article 1837. 10.3390/genes12111837.
|
|
|
Jones, CL;
Degasperi, A;
Grandi, V;
Amarante, TD;
Genomics England Research Consortium, .;
Mitchell, TJ;
Nik-Zainal, S;
(2021)
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma.
Scientific Reports
, 11
(1)
, Article 3962. 10.1038/s41598-021-83352-4.
|
|
|
Kara, E;
Crimi, A;
Wiedmer, A;
Emmenegger, M;
Manzoni, C;
Bandres-Ciga, S;
D'Sa, K;
... Aguzzi, A; + view all
(2021)
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein.
Cell Reports
, 35
(10)
, Article 109189. 10.1016/j.celrep.2021.109189.
|
|
|
Kemp, SA;
Collier, DA;
Datir, RP;
Ferreira, IATM;
Gayed, S;
Jahun, A;
Hosmillo, M;
... Gupta, RK; + view all
(2021)
SARS-CoV-2 evolution during treatment of chronic infection.
Nature
, 592
pp. 277-282.
10.1038/s41586-021-03291-y.
|
|
Kia, DA;
Zhang, D;
Guelfi, S;
Manzoni, C;
Hubbard, L;
Reynolds, RH;
Botía, J;
... Botiá, JA; + view all
(2021)
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
JAMA Neurology
, 78
(4)
pp. 464-472.
10.1001/jamaneurol.2020.5257.
|
|
|
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.
|
|
Kılavuz, S;
Bulut, D;
Kor, D;
Şeker-Yılmaz, B;
Özcan, N;
Incecik, F;
Onan, B;
... Önenli-Mungan, N; + view all
(2021)
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Neuropediatrics
, 52
(5)
pp. 358-369.
10.1055/s-0040-1722691.
|
|
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).
|
|
|
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.
|
|
Lai, D;
Alipanahi, B;
Fontanillas, P;
Schwantes-An, TH;
Aasly, J;
Alcalay, RN;
Beecham, GW;
... Wilson, CH; + view all
(2021)
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Annals of Neurology
, 90
(1)
pp. 76-88.
10.1002/ana.26094.
|
|
|
Lam, W-Y;
Tang, CS-M;
So, M-T;
Yue, H;
Hsu, JS;
Chung, PH-Y;
Nicholls, JM;
... Tam, PK-H; + view all
(2021)
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
EBioMedicine
, 71
, Article 103530. 10.1016/j.ebiom.2021.103530.
|
|
|
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.
|
|
Lee, DDH;
Cardinale, D;
Nigro, E;
Butler, CR;
Rutman, A;
Fassad, MR;
Hirst, RA;
... O'Callaghan, C; + view all
(2021)
Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia.
European Respiratory Journal
10.1183/13993003.00455-2020.
(In press).
|
|
|
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.
|
|
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).
|
|
|
Lewis, C;
Buchannan, J;
Clarke, A;
Clement, E;
Friedrich, B;
Hastings-Ward, J;
Hill, M;
... Lakhanpaul, M; + view all
(2021)
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 1; peer review: awaiting peer review].
NIHR Open Research
, 1
, Article 23. 10.3310/nihropenres.13236.1.
|
|
|
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).
|
|
|
Lines, KE;
Stevenson, M;
Mihai, R;
Grigorieva, IV;
Shariq, OA;
Gaynor, KU;
Jeyabalan, J;
... Thakker, RV; + view all
(2021)
Hypoxia stimulates angiogenesis and a metabolic switch in human parathyroid adenoma cells.
Endocrine Oncology
, 1
(1)
pp. 23-32.
10.1530/EO-21-0014.
|
|
Luo, Jiao;
Meulmeester, Fleur L;
Martens, Leon G;
Ashrafi, Nadia;
de Mutsert, Renee;
Mook-Kanamori, Dennis O;
Rosendaal, Frits R;
... van Heemst, Diana; + view all
(2021)
Urinary oxidized, but not enzymatic vitamin E metabolites are inversely associated with measures of glucose homeostasis in middle-aged healthy individuals.
Clinical Nutrition
, 40
(6)
pp. 4192-4200.
10.1016/j.clnu.2021.01.039.
|
 |
|
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).
|
|
|
Maguolo, Alice;
Rodella, Giulia;
Dianin, Alice;
Monge, Irene;
Messina, Martina;
Rigotti, Erika;
Pellegrini, Francesca;
... Bordugo, Andrea; + view all
(2021)
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Frontiers in Pediatrics
, 9
, Article 661416. 10.3389/fped.2021.661416.
|
|
|
Magusali, N;
Graham, AC;
Piers, TM;
Panichnantakul, P;
Yaman, U;
Shoai, M;
Reynolds, RH;
... Salih, DA; + view all
(2021)
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
Brain
10.1093/brain/awab337.
(In press).
|
|
|
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.
|
|
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.
|
|
Martin, HC;
Gardner, EJ;
Samocha, KE;
Kaplanis, J;
Akawi, N;
Sifrim, A;
Eberhardt, RY;
... Davidson, R; + view all
(2021)
The contribution of X-linked coding variation to severe developmental disorders.
Nature Communications
, 12
(1)
, Article 627. 10.1038/s41467-020-20852-3.
(In press).
|
|
|
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).
|
|
|
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.
|
|
|
Maudhoo, A;
Maharaj, A;
Buonocore, F;
Martos-Moreno, GA;
Argente, J;
Achermann, JC;
Chan, LF;
(2021)
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Endocrinology, diabetes & metabolism case reports
, 2021
(1)
10.1530/EDM-21-0128.
|
|
|
McGlacken-Byrne, SM;
Le Quesne Stabej, P;
Del Valle Torres, I;
Ocaka, L;
Gagunashvili, A;
Crespo, B;
Moreno, N;
... Conway, GS; + view all
(2021)
ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism
10.1210/clinem/dgab597.
(In press).
|
|
|
Meng, B;
Kemp, SA;
Papa, G;
Datir, R;
Ferreira, IATM;
Marelli, S;
Harvey, WT;
... Gupta, RK; + view all
(2021)
Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7.
Cell Reports
, 35
(13)
, Article 109292. 10.1016/j.celrep.2021.109292.
|
|
|
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.
|
|
|
Minnis, CJ;
Townsend, S;
Petschnigg, J;
Tinelli, E;
Bähler, J;
Russell, C;
Mole, SE;
(2021)
Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
Scientific Reports
, 11
, Article 6332. 10.1038/s41598-021-85471-4.
|
|
|
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.
|
|
|
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.
|
|
|
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.
|
|
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.
|
|
|
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.
|
|
|
Pagnamenta, AT;
Wei, W;
Rahman, S;
Chinnery, PF;
(2021)
Biparental inheritance of mitochondrial DNA revisited.
Nature Reviews Genetics
, 22
pp. 477-478.
10.1038/s41576-021-00380-6.
|
|
Paredes-Redondo, A;
Harley, P;
Maniati, E;
Ryan, D;
Louzada, S;
Meng, J;
Kowala, A;
... Lin, YY; + view all
(2021)
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.
Science Advances
, 7
(37)
10.1126/sciadv.abi8787.
|
|
|
Park, Bo-Yong;
Larivière, Sara;
Rodríguez-Cruces, Raul;
Royer, Jessica;
Tavakol, Shahin;
Wang, Yezhou;
Caciagli, Lorenzo;
... Bernhardt, Boris C; + view all
(2021)
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
Brain
10.1093/brain/awab417.
(In press).
|
|
|
Perocheau, D;
Touramanidou, L;
Gurung, S;
Gissen, P;
Baruteau, J;
(2021)
Clinical applications for exosomes: are we there yet?
British Journal of Pharmacology
10.1111/bph.15432.
|
|
|
Persani, L;
Bonomi, M;
Cools, M;
Dattani, M;
Dunkel, L;
Gravholt, CH;
Juul, A;
(2021)
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay.
Endocrine
10.1007/s12020-021-02626-z.
(In press).
|
|
|
Pietrobelli, Angelo;
(2021)
Failure to Thrive: To Recognize, to Diagnose and to Treat.
Food Science and Nutrition
, 7
(3)
, Article 105. 10.24966/fsn-1076/100105.
|
|
|
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).
|
|
|
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.
|
|
|
Rossi, A;
Hoogeveen, IJ;
Lubout, CMA;
de Boer, F;
Fokkert-Wilts, MJ;
Rodenburg, IL;
van Dam, E;
... Ziagaki, A; + view all
(2021)
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
Journal of Inherited Metabolic Disease
, 44
(5)
pp. 1124-1135.
10.1002/jimd.12386.
|
|
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).
|
|
|
Rumman, Nisreen;
Fassad, Mahmoud;
Driessens, Corine;
Goggin, Patricia;
Abdelrahman, Nader;
Adwan, Adel;
Chopra, Jagrati;
... Lucas, Jane; + view all
(2021)
The Palestinian primary ciliary dyskinesia (PCD) cohort: clinical, diagnostic and genetic spectrum.
European Respiratory Journal
, 58
(65)
, Article OA2957. 10.1183/13993003.congress-2021.OA2957.
|
|
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.
|
|
|
Saez-Atienzar, S;
Bandres-Ciga, S;
Langston, RG;
Kim, JJ;
Choi, SW;
Reynolds, RH;
International ALS Genomics Consortium;
... Traynor, BJ; + view all
(2021)
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Science Advances
, 7
(3)
, Article eabd9036. 10.1126/sciadv.abd9036.
|
|
|
Sánchez, JA;
Gil-Martinez, AL;
Cisterna, A;
García-Ruíz, S;
Gómez-Pascual, A;
Reynolds, RH;
Nalls, M;
... Botía, JA; + view all
(2021)
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.
Bioinformatics
10.1093/bioinformatics/btab175.
(In press).
|
|
|
Sánchez-Corrales, YE;
Blanchard, GB;
Röper, K;
(2021)
Correct regionalization of a tissue primordium is essential for coordinated morphogenesis.
eLife
, 10
, Article e72369. 10.7554/eLife.72369.
|
|
|
Sánchez-Corrales, YE;
Pohle, RVC;
Castellano, S;
Giustacchini, A;
(2021)
Taming Cell-to-Cell Heterogeneity in Acute Myeloid Leukaemia With Machine Learning.
Frontiers in Oncology
, 11
, Article 666829. 10.3389/fonc.2021.666829.
(In press).
|
|
|
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).
|
|
|
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.
|
|
|
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.
|
|
Şeker Yilmaz, B;
Kör, D;
Bulut, FD;
Kilavuz, S;
Ceylaner, S;
Önenli Mungan, HN;
(2021)
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Turkish Journal of Medical Sciences
10.3906/sag-2001-72.
(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.
|
|
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).
|
|
|
Simone, R;
Javad, F;
Emmett, W;
Wilkins, OG;
Almeida, FL;
Barahona-Torres, N;
Zareba-Paslawska, J;
... De Silva, R; + view all
(2021)
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Nature
, 594
pp. 117-123.
10.1038/s41586-021-03556-6.
|
|
Soldati, C;
Lopez-Fabuel, I;
Wanderlingh, LG;
Garcia-Macia, M;
Monfregola, J;
Esposito, A;
Napolitano, G;
... Medina, DL; + view all
(2021)
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
EMBO Molecular Medicine
10.15252/emmm.202013742.
(In press).
|
|
|
Song, H;
Hart, SL;
Du, Z;
(2021)
Assembly strategy of liposome and polymer systems for siRNA delivery.
International Journal of Pharmaceutics
, 592
, Article 120033. 10.1016/j.ijpharm.2020.120033.
|
|
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).
|
|
|
Storm, CS;
Kia, DA;
Almramhi, MM;
Bandres-Ciga, S;
Finan, C;
Hingorani, AD;
Wood, NW;
(2021)
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.
Nature Communications
, 12
(1)
, Article 7342. 10.1038/s41467-021-26280-1.
|
|
|
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).
|
|
|
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).
|
|
|
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.
|
|
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, CL;
McFie, M;
Chapple, JP;
Beales, P;
Knight, MM;
(2021)
Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation.
International Journal of Molecular Sciences
, 22
(9)
, Article 4313. 10.3390/ijms22094313.
|
|
|
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).
|
|
|
Thornton, CD;
Fielding, S;
Karbowniczek, K;
Roig-Merino, A;
Burrows, AE;
FitzPatrick, LM;
Sharaireh, A;
... McKay, TR; + view all
(2021)
Safe and stable generation of induced pluripotent stem cells using doggybone DNA vectors.
Molecular Therapy: Methods & Clinical Development
, 23
pp. 348-358.
10.1016/j.omtm.2021.09.018.
|
|
|
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.
|
|
van Wegberg, AMJ;
Trefz, F;
Gizewska, M;
Ahmed, S;
Chabraoui, L;
Zaki, MS;
Maillot, F;
... Study Group on Missed PKU and Missed to Follow-Up, .; + view all
(2021)
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
The Journal of Pediatrics
, 239
231-234.e2.
10.1016/j.jpeds.2021.08.070.
|
|
|
Volz, E;
Mishra, S;
Chand, M;
Barrett, JC;
Johnson, R;
Geidelberg, L;
Hinsley, WR;
... Ferguson, NM; + view all
(2021)
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England.
Nature
, 593
(7858)
pp. 266-269.
10.1038/s41586-021-03470-x.
|
|
Volz, E;
Hill, V;
McCrone, JT;
Price, A;
Jorgensen, D;
O'Toole, Á;
Southgate, J;
... Connor, TR; + view all
(2021)
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity.
Cell
, 184
(1)
64-75.e11.
10.1016/j.cell.2020.11.020.
|
|
|
Wagstaff, LJ;
Gomez-Sanchez, JA;
Fazal, SV;
Otto, GW;
Kilpatrick, AM;
Michael, K;
Wong, LY;
... Jessen, KR; + view all
(2021)
Failures of nerve regeneration caused by aging or chronic denervation are rescued by restoring Schwann cell c-Jun.
eLife
, 10
, Article e62232. 10.7554/eLife.62232.
|
|
|
Whittaker, Danielle E;
Oleari, Roberto;
Gregory, Louise C;
Le Quesne-Stabej, Polona;
Williams, Hywel J;
Torpiano, John G;
Formosa, Nancy;
... Dattani, Mehul T; + view all
(2021)
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Journal of Clinical Investigation
, 131
(24)
, Article e141587. 10.1172/JCI141587.
|
|
|
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.
|
|
|
Wilks, C;
Zheng, SC;
Chen, FY;
Charles, R;
Solomon, B;
Ling, JP;
Imada, EL;
... Langmead, B; + view all
(2021)
recount3: summaries and queries for large-scale RNA-seq expression and splicing.
Genome Biology
, 22
, Article 323. 10.1186/s13059-021-02533-6.
|
|
|
Xu, X;
Awad, A;
Martinez, PR;
Gaisford, S;
Goyanes, A;
Basit, AW;
(2021)
Vat photopolymerization 3D printing for advanced drug delivery and medical device applications.
Journal of Controlled Release
, 329
pp. 743-757.
10.1016/j.jconrel.2020.10.008.
|
|
Yılmaz, BŞ;
Ceylaner, S;
Mungan, NÖ;
(2021)
Brown vialetto van laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.
The Turkish Journal of Pediatrics
, 63
(2)
pp. 314-318.
10.24953/turkjped.2021.02.016.
|
|
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.
|
|
|
Yutuc, E;
Dickson, AL;
Pacciarini, M;
Griffiths, L;
Baker, PRS;
Connell, L;
Öhman, A;
... Wang, Y; + view all
(2021)
Deep Mining of Oxysterols and Cholestenoic Acids in Human Plasma and Cerebrospinal Fluid: Quantification using Isotope Dilution Mass Spectrometry.
Analytica Chimica Acta
, Article 338259. 10.1016/j.aca.2021.338259.
|
|
|
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.
|
|
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.
|
Book chapter
|
Milano, EG;
Popa, T;
Iacob, AM;
Schievano, S;
(2021)
3D Printing and Engineering Tools Relevant to Plan a Transcatheter Procedure.
In:
Cardiac Catheterization for Congenital Heart Disease: From Fetal Life to Adulthood, Second Edition.
(pp. 1067-1081).
Springer International Publishing: Cham, Switzerland.
|
Conference item
|
Khatun, A;
Wu, W;
Peng, J;
Hennelly, L;
Sloan, M;
Bosley, M;
Howard, P;
... Ciurtin, C; + view all
(2021)
Self-reported disease activity was the main determinant of the perceived impact of COVID-19 pandemic on adolescent and young patients with Juvenile Dermatomyositis (JDM) and Juvenile Onset Systemic Lupus Erythematosus (JSLE).
Presented at: British Society for Rheumatology Annual Conference.
(In press).
|
|
Martin-Gutierrez, L;
Peng, J;
Robinson, G;
Naja, M;
Peckham, H;
Wu, W;
Isenberg, D;
... Ciurtin, C; + view all
(2021)
Immunophenotype of systemic lupus erythematosus and Sjogren´s syndrome patients identified two endotypes with potential therapeutic implications.
Presented at: Lupus Academy 10th Annual Meeting, Virtual.
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Martin-Gutierrez, L;
Peng, J;
Robinson, G;
Naja, M;
Peckham, H;
Wu, W;
Isenberg, D;
... Ciurtin, C; + view all
(2021)
Immunophenotype of Sjögren´s syndrome and systemic lupus erythematosus patients identified two endotypes with potential therapeutic implications.
Presented at: EULAR 2021: European Congress of Rheumatology 2021, Virtual.
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Thesis
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Reynolds, Regina Hertfelder;
(2021)
Exploring the importance of cell-type-specific gene expression regulation and splicing in Parkinson’s disease.
Doctoral thesis (Ph.D), UCL (University College London).
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