요약정보
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
- Resource Type
- Academic Journal
- Authors
- Cheng H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Capponi S; German Cancer Consortium (DKTK), partner site Freiburg, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg, Germany.; Department of Urology, Medical Faculty-University of Freiburg, Breisacher Str. 66, Freiburg, Germany.; Wakeling E; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, UK.; Marchi E; Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.; Li Q; Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Ontario, Canada.; Zhao M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weng C; Department of Biomedical Informatics, Columbia University Medical Center, New York, NY, USA.; Stefan PG; Great Ormond Street Hospital, Great Ormond Street, London, UK.; Ahlfors H; Great Ormond Street Hospital, Great Ormond Street, London, UK.; Kleyner R; Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA.; Rope A; Kaiser Permanente Center for Health Research, Portland, OR, USA.; Genome Medical, South San Francisco, CA, USA.; Lumaka A; Department of Biomedical and Preclinical Sciences, GIGA-R, Laboratory of Human Genetics, University of Liège, Liège, Belgium.; Institut National de Recherche Biomédicale, Kinshasa, DR, Congo.; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, DR, Congo.; Lukusa P; Institut National de Recherche Biomédicale, Kinshasa, DR, Congo.; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, DR, Congo.; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.; Devriendt K; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.; Vermeesch J; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Palmer EE; Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.; Murray L; Genetics of Learning Disability Service, Newcastle, NSW, Australia.; Leon E; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.; Diaz J; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.; Worgan L; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia.; Mallawaarachchi A; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia.; Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; de Munnik SA; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.; Dreyer L; Genetic Services of Western Australia, Undiagnosed Diseases Program, Perth, Western Australia, Australia.; Baynam G; Genetic Services of Western Australia, Undiagnosed Diseases Program, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.; Telethon Kids Institute, Perth, Western Australia, Australia.; University of Western Australia, School of Medicine, Division of Paediatrics, Perth, Western Australia, Australia.; Ewans L; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Gonçalves AR; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal.; Soares G; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal.; Oliveira J; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal.; unIGENe, and Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Institute of Health Research and Innovation (i3S), University of Porto, Porto, Portugal.; Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MI, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MI, USA.; Waugh JL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Division of Pediatric Neurology, University of Texas Southwestern, Dallas, TX, USA.; Faivre L; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.; Riviere JB; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.; Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.; Reference Center for Developmental Anomalies, Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London, UK.; Payne K; Indiana University School of Medicine, Department of Neurology, Indianapolis, IN.; Walsh L; Indiana University School of Medicine, Department of Neurology, Indianapolis, IN.; Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Douglas G; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Alexander N; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Buckley MF; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick, Australia.; Mark PR; Spectrum Health Division of Medical and Molecular Genetics, Grand Rapids, MI, USA.; Adès LC; Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.; Department of Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Sandaradura SA; Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.; Department of Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick, Australia.; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.; Agrawal PB; Divisions of Newborn Medicine and Genetics & Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Timmers HTM; German Cancer Consortium (DKTK), partner site Freiburg, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg, Germany.; Department of Urology, Medical Faculty-University of Freiburg, Breisacher Str. 66, Freiburg, Germany.; Lyon GJ; Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.; Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA.; Biology PhD Program, The Graduate Center, The City University of New York, NY, USA.
- Source
- Publisher:
Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN:10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE - Subject
- Language
- English