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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard, Laure; Smail, Craig; Ferraro, Nicole M; Teran, Nicole A; Li, Xin; Smith, Kevin S; Bonner, Devon; Kernohan, Kristin D; Marwaha, Shruti; Zappala, Zachary; Balliu, Brunilda; Davis, Joe R; Liu, Boxiang; Prybol, Cameron J; Kohler, Jennefer N; Zastrow, Diane B; Reuter, Chloe M; Fisk, Dianna G; Grove, Megan E; Davidson, Jean M; Hartley, Taila; Joshi, Ruchi; Strober, Benjamin J; Utiramerur, Sowmithri; Lind, Lars; Ingelsson, Erik; Battle, Alexis; Bejerano, Gill; Bernstein, Jonathan A; Ashley, Euan A; Boycott, Kym M; Merker, Jason D; Wheeler, Matthew T; Montgomery, Stephen B.
Afiliação
  • Frésard L; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. lfresard@stanford.edu.
  • Smail C; Biomedical Informatics Program, Stanford University, Stanford, CA, USA.
  • Ferraro NM; Biomedical Informatics Program, Stanford University, Stanford, CA, USA.
  • Teran NA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.
  • Li X; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.
  • Smith KS; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.
  • Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Kernohan KD; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Zappala Z; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA.
  • Balliu B; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.
  • Davis JR; Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.
  • Liu B; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.
  • Prybol CJ; Department of Biology, School of Humanities and Sciences, Stanford University, Stanford, CA, USA.
  • Kohler JN; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.
  • Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Fisk DG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Grove ME; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA.
  • Davidson JM; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA.
  • Hartley T; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Joshi R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Strober BJ; Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA.
  • Utiramerur S; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Ingelsson E; Department of Medical Sciences, Cardiovascular Epidemiology, Uppsala University, Uppsala, Sweden.
  • Battle A; Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA.
  • Bejerano G; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA.
  • Bernstein JA; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
  • Ashley EA; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
  • Boycott KM; Department of Computer Science, Stanford University, Stanford, CA, USA.
  • Merker JD; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA.
  • Wheeler MT; Department of Developmental Biology, School of Medicine, Stanford University, Stanford, CA, USA.
  • Montgomery SB; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.
Nat Med ; 25(6): 911-919, 2019 06.
Article em En | MEDLINE | ID: mdl-31160820
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Nat Med Assunto da revista: BIOLOGIA MOLECULAR / MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Nat Med Assunto da revista: BIOLOGIA MOLECULAR / MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos