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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V.
  • Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lee PT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
  • Braddock SR; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Medical Center, St. Louis, MO 63104, USA; Department of Pediatrics, Saint Louis University Hospital, St. Louis, MO 63104, USA.
  • Slavotinek AM; Department of Pediatrics, University of California, San Francisco, CA 94143-2711, USA.
  • Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Gubbels CS; Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School/Broad Institute of MIT and Harvard, Boston, MA 02138, USA.
  • Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Williams J; Paediatric Department, Bundaberg Hospital, Bundaberg, QLD 4670, Australia.
  • Indaram M; Department of Ophthalmology, University of California, San Francisco, CA 94143-2711, USA.
  • Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Yu TW; Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School/Broad Institute of MIT and Harvard, Boston, MA 02138, USA.
  • Agrawal PB; Division of Newborn Medicine and Genetics and Genomics, Manton Center for Orphan Disease Research, Harvard Medical School, Boston, MA 02115, USA.
  • Vezina G; Division of Diagnostic Imaging & Radiology, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA.
  • Simons C; The Institute of Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia; Murdoch Childrens Research Institute, Melbourne, VIC 3052 Australia.
  • Crawford J; The Institute of Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
  • Lau CC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
  • Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
  • Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892-1851, USA.
  • Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics (Genetics), University of Washington, Seattle, WA 98195, USA; Department of Neurology, University of Washington, Seattle, WA 98195, USA.
  • Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892-1851, USA.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892-1851, USA.
  • Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, 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 N
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, 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 N
  • Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892-1851, USA. Electronic address: maychristine.malicdan@nih.gov.
Am J Hum Genet ; 105(2): 413-424, 2019 08 01.
Article en En | MEDLINE | ID: mdl-31327508
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cerebelo / Discapacidades del Desarrollo / Coloboma / Epilepsia / Trastorno Dismórfico Corporal / Repeticiones WD40 / Discapacidad Intelectual / Mutación / Malformaciones del Sistema Nervioso Tipo de estudio: Risk_factors_studies Límite: Adult / Animals / Child / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cerebelo / Discapacidades del Desarrollo / Coloboma / Epilepsia / Trastorno Dismórfico Corporal / Repeticiones WD40 / Discapacidad Intelectual / Mutación / Malformaciones del Sistema Nervioso Tipo de estudio: Risk_factors_studies Límite: Adult / Animals / Child / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article