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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

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Title: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Authors: Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia., Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA., Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA., Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia., Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA., Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA., Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA., Seeley A; Geisinger Medical Center, Danville, PA, USA., Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA., Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA., Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal., Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA., Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA., Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA., Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA., Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA., Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia., Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA., Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA., Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA., Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK., Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK., Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK., McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK., Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK., Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia., Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
Corporate Authors: Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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      – PersonEntity:
          Name:
            NameFull: Young JI
      – PersonEntity:
          Name:
            NameFull: Marsh ED
      – PersonEntity:
          Name:
            NameFull: Nelson SF
      – PersonEntity:
          Name:
            NameFull: Martinez JA
      – PersonEntity:
          Name:
            NameFull: Graham JM Jr
      – PersonEntity:
          Name:
            NameFull: Kini U
      – PersonEntity:
          Name:
            NameFull: Mackay JP
      – PersonEntity:
          Name:
            NameFull: Pierson TM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2020 May
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 22
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1