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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/humu/4711663 |
