Items where authors include "Clayton-Smith, J"

Article

Al-Jawahiri, R orcid.org/0000-0002-5689-3368, Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

Abani, O, Abbas, A, Abbas, F et al. (6300 more authors) (2022) Casirivimab and imdevimab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial. The Lancet, 399 (10325). pp. 665-676. ISSN 0140-6736

Abani, O, Abbas, A, Abbas, F et al. (4809 more authors) (2021) Convalescent plasma in patients admitted to hospital with COVID-19 (RECOVERY): a randomised controlled, open-label, platform trial. The Lancet, 397 (10289). pp. 2049-2059. ISSN 0140-6736

Abani, O orcid.org/0000-0003-2209-9956, Abbas, A, Abbas, F et al. (6346 more authors) (2021) Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial. The Lancet, 397 (10285). pp. 1637-1645. ISSN 0140-6736

Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

Wei, W, Tuna, S, Keogh, MJ et al. (426 more authors) (2019) Germline selection shapes human mitochondrial DNA diversity. Science, 364 (6442). 749-+. ISSN 0036-8075

Bengani, H, Handley, M orcid.org/0000-0001-7200-747X, Alvi, M et al. (31 more authors) (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine, 19 (8). pp. 900-908. ISSN 1098-3600

Taylor, RL, Arno, G, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology, 135 (4). pp. 339-347. ISSN 2168-6165

Taylor, RL, Handley, MT orcid.org/0000-0001-7200-747X, Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)