Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

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Bibliographic Details
Title: Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Authors: Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk., Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK., Halachev M; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Joseph J; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK., Holden S; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Prescott TE; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Bitoun P; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Lachlan K; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK., Bernar J; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain., van Heyningen V; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK., FitzPatrick DR; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK., Meynert A; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
Source: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 250-261. Date of Electronic Publication: 2024 Feb 21.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2023-109181