요약정보
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
- Resource Type
- Academic Journal
- Authors
- Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Huang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Barish S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Zhang X; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China.; Choufani S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Le Quesne Stabej P; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, the University of Auckland, Auckland, New Zealand.; Hayes I; Genetic Health Service New Zealand- Northern Hub, Auckland District Health Board, Auckland, New Zealand.; Yap P; Genetic Health Service New Zealand- Northern Hub, Auckland District Health Board, Auckland, New Zealand.; Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, NC 28803, USA.; Wilson C; Mission Fullerton Genetics Center, Asheville, NC 28803, USA.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, FL, USA; Clinical Genetics Service, Guy's Hospital, Guy's and St Thomas' NHS Trust, London, England, UK.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, FL, USA.; Zon J; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.; Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, Paris, France.; Mignot C; Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Robin-Renaldo F; AP-HP, Sorbonne Université, Service de Neurpoédiatrie, Hôpital Trousseau, Paris, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Mao X; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China; Clinical Research Center for Placental Medicine in Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China.; Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.
- Source
- Publisher:
Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN:00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE - Subject
- Language
- English