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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu, Xiaolin; Petrovski, Slavé; Xie, Pingxing; Ruzzo, Elizabeth K; Lu, Yi-Fan; McSweeney, K Melodi; Ben-Zeev, Bruria; Nissenkorn, Andreea; Anikster, Yair; Oz-Levi, Danit; Dhindsa, Ryan S; Hitomi, Yuki; Schoch, Kelly; Spillmann, Rebecca C; Heimer, Gali; Marek-Yagel, Dina; Tzadok, Michal; Han, Yujun; Worley, Gordon; Goldstein, Jennifer; Jiang, Yong-Hui; Lancet, Doron; Pras, Elon; Shashi, Vandana; McHale, Duncan; Need, Anna C; Goldstein, David B.
Afiliação
  • Zhu X; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Petrovski S; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Xie P; Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Australia.
  • Ruzzo EK; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Lu YF; Present address: Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • McSweeney KM; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Ben-Zeev B; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Nissenkorn A; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Anikster Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Oz-Levi D; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Dhindsa RS; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Hitomi Y; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Schoch K; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Spillmann RC; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Heimer G; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Marek-Yagel D; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Tzadok M; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Han Y; Present address: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
  • Worley G; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
  • Goldstein J; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Jiang YH; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Lancet D; Pinchas Borenstein Talpiot Medical Leadership Program, Pediatric Neurology Unit, Chaim Sheba Medical Center, Tel HaShomer, Israel.
  • Pras E; Metabolic Disease Unit, Edmond and Lily Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • Shashi V; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
  • McHale D; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Need AC; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.
  • Goldstein DB; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Genet Med ; 17(10): 774-81, 2015 Oct.
Article em En | MEDLINE | ID: mdl-25590979
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Exoma / Doenças Genéticas Inatas Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Exoma / Doenças Genéticas Inatas Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos