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
ACTH receptor mutation in a girl with familial glucocorticoid deficiency
TL;DR: It is suggested that mutation analysis of the ACTH receptor gene be considered in children with clinical features of FGD and tall stature, and it is described a girl born to consanguineous Pakistani parents who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene.
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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Mark J. Hamilton,Ruth Newbury-Ecob,Muriel Holder-Espinasse,Shu Yau,S. Lillis,Jane A. Hurst,Emma Clement,William Reardon,Shelagh Joss,Emma Hobson,Moira Blyth,Maryam Al-Shehhi,Sally Ann Lynch,Mohnish Suri +13 more
TL;DR: The findings support previous observations that microcephaly, maternal pre-eclampsia, mild growth restriction and a mild to moderate intellectual disability are key pointers to the diagnosis of EP300-related RTS.
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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
Jane A. Hurst,Dagan Jenkins,Pradeep C. Vasudevan,Maria Kirchhoff,Flemming Skovby,Claudine Rieubland,Sabina Gallati,Olaf Rittinger,Peter M. Kroisel,David W. Johnson,Leslie G. Biesecker,Andrew O.M. Wilkie +11 more
TL;DR: A recently proposed association of intragenic GLI3 mutations with metopic synostosis is extended and confirmed, and the three individuals with complete deletion ofGLI3 were previously considered to have Carpenter syndrome are highlighted, highlighting an important source of diagnostic confusion.
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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Víctor Faundes,Víctor Faundes,Stephanie Goh,Rhoda Akilapa,Heidre Bezuidenhout,Hans T. Bjornsson,Hans T. Bjornsson,Lisa Bradley,Angela F. Brady,Elise Brischoux-Boucher,Han G. Brunner,Saskia Bulk,Natalie Canham,Declan Cody,Maria Lisa Dentici,Maria Cristina Digilio,Frances Elmslie,Andrew E. Fry,Harinder Gill,Jane A. Hurst,Diana S. Johnson,Sophie Julia,Katherine Lachlan,Robert Roger Lebel,Melissa Byler,Eric Gershon,Edmond G. Lemire,Maria Gnazzo,Francesca Romana Lepri,Antonia Marchese,Meriel McEntagart,Julie McGaughran,Seiji Mizuno,Nobuhiko Okamoto,Claudine Rieubland,Jonathan Rodgers,Erina Sasaki,Emmanuel Scalais,Ingrid Scurr,Mohnish Suri,Ineke van der Burgt,Naomichi Matsumoto,Noriko Miyake,Valérie Benoit,Damien Lederer,Siddharth Banka,Siddharth Banka +46 more
TL;DR: In this article, the variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood and the variability of the KS2 phenotypic depends on sex and the variant type.
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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Federico Tessadori,Jacques C. Giltay,Jane A. Hurst,Maarten P.G. Massink,Karen Duran,Harmjan R. Vos,Robert M. van Es,Richard H Scott,Koen L.I. van Gassen,Jeroen Bakkers,Gijs van Haaften +10 more
TL;DR: It is shown that the histone H4 alterations cause genomic instability, resulting in increased apoptosis and cell cycle progression anomalies during early development, and indicates an important role for the ubiquitination of H4K91 in genomic stability during embryonic development.