A
Astrid Weber
Researcher at National Health Service
Publications - 15
Citations - 1263
Astrid Weber is an academic researcher from National Health Service. The author has contributed to research in topics: Exome sequencing & Missense mutation. The author has an hindex of 11, co-authored 15 publications receiving 768 citations. Previous affiliations of Astrid Weber include Boston Children's Hospital.
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Journal ArticleDOI
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Jenny Lord,Dominic J. McMullan,Ruth Y. Eberhardt,Gabriele Rinck,Susan Hamilton,E Quinlan-Jones,Elena Prigmore,Rebecca Keelagher,Sunayna Best,Georgina K. Carey,Rhiannon Mellis,Sarah Robart,Ian R. Berry,Kate Chandler,Deirdre Cilliers,Lara Cresswell,Sandra L. Edwards,Carol Gardiner,Alex Henderson,Simon Holden,Tessa Homfray,Tracy Lester,Rebecca A. Lewis,Ruth Newbury-Ecob,Katrina Prescott,Oliver Quarrell,Simon C Ramsden,E. Roberts,Dagmar Tapon,Madeleine J. Tooley,Pradeep C. Vasudevan,Astrid Weber,Diana Wellesley,Paul Westwood,Helen E. White,Michael Parker,Denise Williams,Lucy Jenkins,Richard H Scott,Mark D. Kilby,Lyn S. Chitty,Matthew E. Hurles,Eamonn R. Maher +42 more
TL;DR: WES improved the identification of genetic disorders in fetuses with structural abnormalities; however, before clinical implementation, careful consideration should be given to case selection to maximise clinical usefulness.
Journal ArticleDOI
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Jenny Lord,Dominic J. McMullan,Ruth Y. Eberhardt,Gabriele Rinck,Susan Hamilton,E Quinlan-Jones,Elena Prigmore,Rebecca Keelagher,Sunayna Best,Georgina K. Carey,Rhiannon Mellis,Sarah Robart,Ian R. Berry,Kate Chandler,Deirdre Cilliers,Lara Cresswell,Sandra L. Edwards,Carol Gardiner,Annabel Henderson,Simon Holden,Tessa Homfray,Tracy Lester,Rebecca A. Lewis,Ruth Newbury-Ecob,Katrina Prescott,Oliver Quarrell,Simon C Ramsden,E. Roberts,Dagmar Tapon,Madeleine J. Tooley,Pradeep C. Vasudevan,Astrid Weber,Diana Wellesley,Paul Westwood,Helen E. White,Michael Parker,Denise Williams,Lucy Jenkins,Richard H Scott,Kilby,Lyn S. Chitty,Matthew E. Hurles,Eamonn R. Maher +42 more
TL;DR: In this article, the authors used whole-exome sequencing (WES) to evaluate the presence of genetic variants in developmental disorder genes (diagnostic genetic variants) in a cohort of fetuses with structural anomalies and samples from their parents.
Journal ArticleDOI
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Tobias Schwerd,Twigg Srf.,Dominik Aschenbrenner,S Manrique,Kerry A. Miller,Indira B. Taylor,Melania Capitani,Simon J. McGowan,E Sweeney,Astrid Weber,L Chen,Paul Bowness,A Riordan,Andrew J. Cant,Alexandra F. Freeman,Joshua D. Milner,Steve M. Holland,N Frede,Miryam Müller,Dirk Schmidt-Arras,Bodo Grimbacher,Bodo Grimbacher,Steven A. Wall,E Y Jones,Wilkie Aom.,Holm H. Uhlig +25 more
TL;DR: A patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response is identified with a novel immunodeficiency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130.
Journal ArticleDOI
Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.
Mariam Jafri,Naomi C. Wake,David B. Ascher,Douglas E. V. Pires,Dean Gentle,Mark R. Morris,Eleanor Rattenberry,Michael A. Simpson,Richard C. Trembath,Astrid Weber,Emma R. Woodward,Alan Donaldson,Tom L. Blundell,Farida Latif,Eamonn R. Maher,Eamonn R. Maher +15 more
TL;DR: Germline loss-of-function CDKN2B mutations were identified in a subset of patients with features of inherited RCC and will have an impact on familial cancer screening and might prove to influence the management of disseminated disease.
Journal ArticleDOI
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Kerry A. Miller,Stephen R.F. Twigg,Simon J. McGowan,Julie M. Phipps,Aimee L. Fenwick,David W. Johnson,Steven A. Wall,Peter Noons,Katie E. M. Rees,Elizabeth A Tidey,Judith Craft,John Taylor,Jenny C. Taylor,Jenny C. Taylor,Jenny C. Taylor,Jacqueline A C Goos,Sigrid M. A. Swagemakers,Irene M.J. Mathijssen,Peter J. van der Spek,Helen Lord,Tracy Lester,Noina Abid,Deirdre Cilliers,Jane A. Hurst,Jenny Morton,Elizabeth Sweeney,Astrid Weber,Louise C. Wilson,Andrew O.M. Wilkie +28 more
TL;DR: In this paper, the authors used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects with craniosynostosis, selected by clinical or molecular geneticists as being high-priority cases, and in whom prior clinically driven genetic testing had been negative.