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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Autor: Bernkopf M; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK.; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Abdullah UB; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK., Bush SJ; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Wood KA; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Ghaffari S; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia., Koelling N; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Maher GJ; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Thibaut LM; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia., Williams J; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Blair EM; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kelly FB; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bloss A; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK., Canham N; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Deng AT; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Dixit A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Eason J; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK., Gardham A; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK., Hay E; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Holder M; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Homfray T; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK., Hurst JA; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Kini U; NIHR Oxford Biomedical Research Centre, Oxford, UK.; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kivuva E; Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Lees MM; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Leitch HG; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Németh AH; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Ramachandrappa S; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Saunders K; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shears DJ; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Side L; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK., Splitt M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Stewart A; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Suri M; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Clouston P; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Davies RW; Department of Statistics, University of Oxford, Oxford, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford, UK., Goriely A; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. anne.goriely@imm.ox.ac.uk.; NIHR Oxford Biomedical Research Centre, Oxford, UK. anne.goriely@imm.ox.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2023 Feb 15; Vol. 14 (1), pp. 853. Date of Electronic Publication: 2023 Feb 15.

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