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

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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
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  Data: Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
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  Data: <searchLink fieldCode="AU" term="%22Hall+HN%22">Hall HN</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk.<br /><searchLink fieldCode="AU" term="%22Parry+D%22">Parry D</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Halachev+M%22">Halachev M</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Williamson+KA%22">Williamson KA</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Donnelly+K%22">Donnelly K</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Campos+Parada+J%22">Campos Parada J</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Bhatia+S%22">Bhatia S</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Joseph+J%22">Joseph J</searchLink>; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Holden+S%22">Holden S</searchLink>; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Prescott+TE%22">Prescott TE</searchLink>; Department of Medical Genetics, Telemark Hospital, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Bitoun+P%22">Bitoun P</searchLink>; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France.<br /><searchLink fieldCode="AU" term="%22Kirk+EP%22">Kirk EP</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Newbury-Ecob+R%22">Newbury-Ecob R</searchLink>; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Lachlan+K%22">Lachlan K</searchLink>; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Bernar+J%22">Bernar J</searchLink>; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22van+Heyningen+V%22">van Heyningen V</searchLink>; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22FitzPatrick+DR%22">FitzPatrick DR</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Meynert+A%22">Meynert A</searchLink>; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 250-261. <i>Date of Electronic Publication: </i>2024 Feb 21.
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        Value: 10.1136/jmg-2023-109181
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