J
Jane A. Hurst
Researcher at Great Ormond Street Hospital
Publications - 90
Citations - 7044
Jane A. Hurst is an academic researcher from Great Ormond Street Hospital. The author has contributed to research in topics: Microcephaly & Mutation. The author has an hindex of 32, co-authored 88 publications receiving 6282 citations. Previous affiliations of Jane A. Hurst include University College London.
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Journal ArticleDOI
A forkhead-domain gene is mutated in a severe speech and language disorder
TL;DR: It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.
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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
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan,Candace T. Myers,Patrick Cossette,Philippe Lemay,Dan Spiegelman,Alexandre D. Laporte,Christina Nassif,Ousmane Diallo,Jean Monlong,Maxime Cadieux-Dion,Maxime Cadieux-Dion,Sylvia Dobrzeniecka,Caroline Meloche,Kyle Retterer,Megan T. Cho,Jill A. Rosenfeld,Weimin Bi,Christine Massicotte,Marguerite Miguet,Ledia Brunga,Brigid M. Regan,Kelly Mo,Cory Tam,Amy L Schneider,Georgie Hollingsworth,David R. FitzPatrick,Alan Donaldson,Natalie Canham,Edward Blair,Bronwyn Kerr,Andrew E. Fry,Rhys H. Thomas,Joss Shelagh,Jane A. Hurst,Helen Brittain,Moira Blyth,Robert Roger Lebel,Erica H. Gerkes,Laura Davis-Keppen,Quinn Stein,Wendy K. Chung,Sara J. Dorison,Paul J. Benke,Emily Fassi,Nicole Corsten-Janssen,Erik-Jan Kamsteeg,Frédéric Tran Mau-Them,Ange-Line Bruel,Alain Verloes,Katrin Õunap,Monica H. Wojcik,Monica H. Wojcik,Dara V.F. Albert,Sunita Venkateswaran,Tyson L Ware,D. L. Jones,Yu Chi Liu,Yu Chi Liu,Shekeeb S. Mohammad,Peyman Bizargity,Carlos A. Bacino,Carlos A. Bacino,Vincenzo Leuzzi,Simone Martinelli,Bruno Dallapiccola,Marco Tartaglia,Lubov Blumkin,Klaas J. Wierenga,Gabriela Purcarin,James J. O'Byrne,Sylvia Stockler,Anna Lehman,Boris Keren,Marie-Christine Nougues,Cyril Mignot,Stéphane Auvin,Caroline Nava,Susan M. Hiatt,Martina Bebin,Yunru Shao,Fernando Scaglia,Seema R. Lalani,Richard E. Frye,Imad Jarjour,Stéphanie Jacques,Renee-Myriam Boucher,Emilie Riou,Myriam Srour,Lionel Carmant,Lionel Carmant,Anne Lortie,Philippe Major,Paola Diadori,François Dubeau,Guy D'Anjou,Guillaume Bourque,Samuel F. Berkovic,Lynette G. Sadleir,Philippe M. Campeau,Philippe M. Campeau,Zoha Kibar,Zoha Kibar,Ronald G. Lafrenière,Simon Girard,Simon Girard,Simon Girard,Saadet Mercimek-Mahmutoglu,Cyrus Boelman,Guy A. Rouleau,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Heather C Mefford,Danielle M. Andrade,Elsa Rossignol,Elsa Rossignol,Berge A. Minassian,Berge A. Minassian,Jacques L. Michaud,Jacques L. Michaud +119 more
TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.
Journal ArticleDOI
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Andrew O.M. Wilkie,Zequn Tang,N Elanko,Sinead Walsh,Stephen R.F. Twigg,Jane A. Hurst,Steven A. Wall,Krystyna H. Chrzanowska,Robert E. Maxson +8 more
TL;DR: It is suggested that PFM and craniosynostosis result, respectively, from loss and gain of activity in an MSX2-mediated pathway of calvarial osteogenic differentiation.
Journal ArticleDOI
Heterozygous mutations of OTX2 cause severe ocular malformations.
Nicola K. Ragge,Nicola K. Ragge,Nicola K. Ragge,Alison Brown,Charlotte M. Poloschek,Birgit Lorenz,R. Alex Henderson,Michael P. Clarke,Isabelle Russell-Eggitt,Alistair R. Fielder,Dianne Gerrelli,Juan Pedro Martinez-Barbera,Piers Ruddle,Jane A. Hurst,J. Richard O. Collin,Alison Salt,Alison Salt,Simon T. Cooper,Pamela J. Thompson,Sanjay M. Sisodiya,Kathleen A Williamson,David R. FitzPatrick,Veronica van Heyningen,Isabel M. Hanson +23 more
TL;DR: Using a candidate-gene approach, heterozygous coding-region changes in the homeobox gene OTX2 are identified in eight families with ocular malformations and supported by data from these four families support a simple model in which OTX1 heterozygOUS loss-of-function mutations cause ocularmalformations.