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Jill Clayton-Smith
Jill Clayton-Smith
Professor of Medical Genetics, University of Manchester, Clinical Geneticist, St Mary's Hospital, Manchester
Bestätigte E-Mail-Adresse bei cmft.nhs.uk
Titel
Zitiert von
Zitiert von
Jahr
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
1745*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
13101997
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
9542009
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8962017
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
8682013
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
8352008
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7432015
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
7182004
Angelman syndrome: a review of the clinical and genetic aspects
J Clayton-Smith, L Laan
Journal of medical genetics 40 (2), 87-95, 2003
7102003
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
6832006
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
6572010
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
4662003
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
4482003
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
441*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
4112013
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
3992016
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
3771991
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
3482007
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
3422008
Autism spectrum disorders following in utero exposure to antiepileptic drugs
RL Bromley, G Mawer, J Clayton-Smith, GA Baker
Neurology 71 (23), 1923-1924, 2008
3392008
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