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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil, Zelha; Deshwar, Ashish R; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Le Quesne Stabej, Polona; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vøllo, Arve; Haynes, Devon; Wheeler, Patricia G; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
Afiliação
  • 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 Mancheste
  • 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
  • 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.cos
  • 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: h
Am J Hum Genet ; 110(11): 1919-1937, 2023 11 02.
Article em En | MEDLINE | ID: mdl-37827158
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Deficiências do Desenvolvimento / Histona-Lisina N-Metiltransferase Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Deficiências do Desenvolvimento / Histona-Lisina N-Metiltransferase Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article