J
Jill Clayton-Smith
Researcher at University of Manchester
Publications - 326
Citations - 21773
Jill Clayton-Smith is an academic researcher from University of Manchester. The author has contributed to research in topics: Exome sequencing & Angelman syndrome. The author has an hindex of 74, co-authored 308 publications receiving 19168 citations. Previous affiliations of Jill Clayton-Smith include St Mary's Hospital & Central Manchester University Hospitals NHS Foundation Trust.
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Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
Syndromes of the Head and Neck
TL;DR: The new Forfar and Arneil is, like its predecessors, a good book, but the absence of the chapter on ear, nose, and throat disorders must surely be an error and there is clearly a marketing problem for British publishers faced with American competition.
Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs
Kimford J. Meador,Gus A. Baker,Nancy Browning,Jill Clayton-Smith,Deborah T. Combs-Cantrell,Morris J. Cohen,Laura A. Kalayjian,Andres M. Kanner,Joyce Liporace,Page B. Pennell,Michael Privitera,David W. Loring +11 more
TL;DR: In utero exposure to valproate, as compared with other commonly used antiepileptic drugs, is associated with an increased risk of impaired cognitive function at 3 years of age, and this finding supports a recommendation thatValproate not be used as a first-choice drug in women of childbearing potential.
Journal ArticleDOI
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study
Kimford J. Meador,Gus A. Baker,Nancy Browning,Morris J. Cohen,Rebecca Bromley,Jill Clayton-Smith,Laura A. Kalayjian,Andres M. Kanner,Joyce Liporace,Page B. Pennell,Michael Privitera,David W. Loring +11 more
TL;DR: In this paper, the effects of commonly used antiepileptic drugs on cognitive outcomes in children up to 6 years of age were assessed with linear regression adjusted for maternal IQ and periconceptional folate.