Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial RECOVERY Collaborative Group Lancet (London, England) 397 (10285), 1637, 2021 | 2050* | 2021 |
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ... Journal of medical genetics 34 (10), 798-804, 1997 | 1319 | 1997 |
Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs KJ Meador, GA Baker, N Browning, J Clayton-Smith, DT Combs-Cantrell, ... New England journal of medicine 360 (16), 1597-1605, 2009 | 969 | 2009 |
Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 932 | 2017 |
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study KJ Meador, GA Baker, N Browning, MJ Cohen, RL Bromley, ... The Lancet Neurology 12 (3), 244-252, 2013 | 893 | 2013 |
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 844 | 2008 |
Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 768 | 2015 |
The longer term outcome of children born to mothers with epilepsy N Adab, U Kini, J Vinten, J Ayres, G Baker, J Clayton-Smith, H Coyle, ... Journal of Neurology, Neurosurgery & Psychiatry 75 (11), 1575-1583, 2004 | 729 | 2004 |
Angelman syndrome: a review of the clinical and genetic aspects J Clayton-Smith, L Laan Journal of medical genetics 40 (2), 87-95, 2003 | 722 | 2003 |
Angelman syndrome 2005: updated consensus for diagnostic criteria CA Williams, AL Beaudet, J Clayton‐Smith, JH Knoll, M Kyllerman, ... American journal of medical genetics Part A 140 (5), 413-418, 2006 | 686 | 2006 |
Large, rare chromosomal deletions associated with severe early-onset obesity EG Bochukova, NI Huang, J Keogh, E Henning, C Purmann, K Blaszczyk, ... Nature 463 (7281), 666-670, 2010 | 665 | 2010 |
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ... Nature genetics 33 (4), 487-491, 2003 | 470 | 2003 |
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport J Kolehmainen, GCM Black, A Saarinen, K Chandler, J Clayton-Smith, ... The American Journal of Human Genetics 72 (6), 1359-1369, 2003 | 452 | 2003 |
Casirivimab and imdevimab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial RECOVERY Collaborative Group, PW Horby, M Mafham, L Peto, ... Medrxiv, 2021.06. 15.21258542, 2021 | 446* | 2021 |
The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs RL Bromley, GE Mawer, M Briggs, C Cheyne, J Clayton-Smith, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (6), 637-643, 2013 | 422 | 2013 |
Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child J Weston, R Bromley, CF Jackson, N Adab, J Clayton‐Smith, ... Cochrane database of systematic reviews, 2016 | 409 | 2016 |
Uniparental paternal disomy in Angelman's syndrome S Malcolm, J Clayton-Smith, M Nichols, ME Pembrey, JAL Armour, ... The Lancet 337 (8743), 694-697, 1991 | 376 | 1991 |
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ... The American Journal of Human Genetics 80 (5), 994-1001, 2007 | 357 | 2007 |
Autism spectrum disorders following in utero exposure to antiepileptic drugs RL Bromley, G Mawer, J Clayton-Smith, GA Baker, ... Neurology 71 (23), 1923, 2008 | 341 | 2008 |
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ... The American journal of human genetics 83 (1), 64-76, 2008 | 340 | 2008 |