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Molecular diagnostic experience of whole-exome sequencing in adult patients.
Posey, Jennifer E; Rosenfeld, Jill A; James, Regis A; Bainbridge, Matthew; Niu, Zhiyv; Wang, Xia; Dhar, Shweta; Wiszniewski, Wojciech; Akdemir, Zeynep H C; Gambin, Tomasz; Xia, Fan; Person, Richard E; Walkiewicz, Magdalena; Shaw, Chad A; Sutton, V Reid; Beaudet, Arthur L; Muzny, Donna; Eng, Christine M; Yang, Yaping; Gibbs, Richard A; Lupski, James R; Boerwinkle, Eric; Plon, Sharon E.
Afiliação
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • James RA; Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, Texas, USA.
  • Bainbridge M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Niu Z; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Dhar S; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gambin T; Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Person RE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Sutton VR; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Muzny D; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Yang Y; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Boerwinkle E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Genet Med ; 18(7): 678-85, 2016 07.
Article em En | MEDLINE | ID: mdl-26633545

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos