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Autor:
Kaplanis J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Samocha KE; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Wiel L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Zhang Z; GeneDx, Gaithersburg, MD, USA., Arvai KJ; GeneDx, Gaithersburg, MD, USA., Eberhardt RY; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Gallone G; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lelieveld SH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Martin HC; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., McRae JF; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Short PJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Torene RI; GeneDx, Gaithersburg, MD, USA., de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Danecek P; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Gardner EJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Huang N; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lord J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Martincorena I; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Yeung A; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Yntema HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Juusola J; GeneDx, Gaithersburg, MD, USA., Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, UK., Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; MHENS School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands., Firth HV; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Barrett JC; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. meh@sanger.ac.uk., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Retterer K; GeneDx, Gaithersburg, MD, USA.
Publikováno v:
Nature [Nature] 2020 Oct; Vol. 586 (7831), pp. 757-762. Date of Electronic Publication: 2020 Oct 14.