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

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第一作者: Marie,Bernkopf
第一单位: 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.
作者单位: 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. [1] 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. [2] Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. [3] Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia. [4] Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia. [5] Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [6] NIHR Oxford Biomedical Research Centre, Oxford, UK.;Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [7] Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [8] Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.;Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK. [9] Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK. [10] Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK. [11] Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK. [12] South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK. [13] North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK. [14] North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK. [15] Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. [16] Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK. [17] 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. [18] West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK. [19] 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. [20] Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK. [21] Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK. [22] Department of Statistics, University of Oxford, Oxford, UK. [23] 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. [24]
DOI 10.1038/s41467-023-36606-w
PMID 36792598
发布时间 2025-05-30
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