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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
Chong, Jessica X; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M; Jamal, Seema M; Tabor, Holly K; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E; Nickerson, Deborah A; Bamshad, Michael J.
Afiliação
  • Chong JX; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Yu JH; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Lorentzen P; Department of Political Science, University of California, Berkeley, California, USA.
  • Park KM; Citizen scientist, San Francisco, California, USA.
  • Jamal SM; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Tabor HK; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Rauch A; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Saenz MS; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Boltshauser E; Institute for Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Patterson KE; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
  • Nickerson DA; Department of Neurology, Children's Hospital of the University of Zurich, Zurich, Switzerland.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Genet Med ; 18(8): 788-95, 2016 08.
Article em En | MEDLINE | ID: mdl-26656649
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Histona Desmetilases / Estudos de Associação Genética / Rede Social Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Histona Desmetilases / Estudos de Associação Genética / Rede Social Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article