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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf, Marie; Abdullah, Ummi B; Bush, Stephen J; Wood, Katherine A; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J; Thibaut, Loïc M; Williams, Jonathan; Blair, Edward M; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A; Johnson, Diana; Jones, Wendy D; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M; Leitch, Harry G; Morton, Jenny E V; Németh, Andrea H; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W; Wilkie, Andrew O M; Goriely, Anne.
Affiliation
  • Bernkopf M; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Abdullah UB; NIHR Oxford Biomedical Research Centre, Oxford, UK.
  • Bush SJ; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Wood KA; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Ghaffari S; NIHR Oxford Biomedical Research Centre, Oxford, UK.
  • Giannoulatou E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • 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; Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.
  • Williams J; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Blair EM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Kelly FB; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia.
  • Bloss A; Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Burkitt-Wright E; NIHR Oxford Biomedical Research Centre, Oxford, UK.
  • Canham N; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Deng AT; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Dixit A; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Eason J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
  • Elmslie F; Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
  • Gardham A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • Hay E; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Holder M; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Homfray T; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Hurst JA; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
  • Johnson D; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK.
  • Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Kini U; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Kivuva E; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
  • Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Lees MM; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Leitch HG; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Morton JEV; NIHR Oxford Biomedical Research Centre, Oxford, UK.
  • Németh AH; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Ramachandrappa S; Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
  • Saunders K; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Shears DJ; North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Side L; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Splitt M; MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK.
  • Stewart A; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Suri M; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Clouston P; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Davies RW; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Wilkie AOM; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Goriely A; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.
Nat Commun ; 14(1): 853, 2023 02 15.
Article in En | MEDLINE | ID: mdl-36792598
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parturition / Fathers Type of study: Etiology_studies / Risk_factors_studies Limits: Child / Female / Humans / Male / Pregnancy Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2023 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parturition / Fathers Type of study: Etiology_studies / Risk_factors_studies Limits: Child / Female / Humans / Male / Pregnancy Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2023 Type: Article Affiliation country: United kingdom