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Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

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Title: Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Authors: Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Halachev M; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Parry D; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Campos JL; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK., D'Souza EN; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Barnett C; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK., Barnicoat A; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Patel CV; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia., Sukarova-Angelovska E; Clinical Genetics, University Pediatric Clinic, Ss. Cyril and Methodius University in Skopje, Skopje, North Macedonia., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Firth HV; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Wilson LC; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., McEntagart M; Medical Genetics, St. George's University Hospitals NHS FT, London, UK., Davidson R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland, University College Dublin School of Medicine, Dublin, Ireland., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Holden ST; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Lam WK; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont Saint Peter, UK., Green AJ; Department of Clinical Genetics, Children's Health Ireland, University College Dublin School of Medicine, Dublin, Ireland., Poke G; Central Hub, Genetic Health Service, Wellington, New Zealand., Whiffin N; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., FitzPatrick DR; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Meynert A; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Source: Human mutation [Hum Mutat] 2025 Jan 30; Vol. 2025, pp. 4711663. Date of Electronic Publication: 2025 Jan 30 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
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  Data: Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Ansari+M%22">Ansari M</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Halachev+M%22">Halachev M</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Parry+D%22">Parry D</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Campos+JL%22">Campos JL</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22D'Souza+EN%22">D'Souza EN</searchLink>; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Barnett+C%22">Barnett C</searchLink>; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Wilkie+AOM%22">Wilkie AOM</searchLink>; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Barnicoat+A%22">Barnicoat A</searchLink>; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Patel+CV%22">Patel CV</searchLink>; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Sukarova-Angelovska+E%22">Sukarova-Angelovska E</searchLink>; Clinical Genetics, University Pediatric Clinic, Ss. Cyril and Methodius University in Skopje, Skopje, North Macedonia.<br /><searchLink fieldCode="AU" term="%22Girisha+KM%22">Girisha KM</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Firth+HV%22">Firth HV</searchLink>; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Prescott+K%22">Prescott K</searchLink>; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Wilson+LC%22">Wilson LC</searchLink>; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22McEntagart+M%22">McEntagart M</searchLink>; Medical Genetics, St. George's University Hospitals NHS FT, London, UK.<br /><searchLink fieldCode="AU" term="%22Davidson+R%22">Davidson R</searchLink>; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, Children's Health Ireland, University College Dublin School of Medicine, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Holden+ST%22">Holden ST</searchLink>; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Lam+WK%22">Lam WK</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Sisodiya+SM%22">Sisodiya SM</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont Saint Peter, UK.<br /><searchLink fieldCode="AU" term="%22Green+AJ%22">Green AJ</searchLink>; Department of Clinical Genetics, Children's Health Ireland, University College Dublin School of Medicine, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Poke+G%22">Poke G</searchLink>; Central Hub, Genetic Health Service, Wellington, New Zealand.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22FitzPatrick+DR%22">FitzPatrick DR</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Meynert+A%22">Meynert A</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
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