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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark, Zornitza; Tan, Tiong Y; Chong, Belinda; Brett, Gemma R; Yap, Patrick; Walsh, Maie; Yeung, Alison; Peters, Heidi; Mordaunt, Dylan; Cowie, Shannon; Amor, David J; Savarirayan, Ravi; McGillivray, George; Downie, Lilian; Ekert, Paul G; Theda, Christiane; James, Paul A; Yaplito-Lee, Joy; Ryan, Monique M; Leventer, Richard J; Creed, Emma; Macciocca, Ivan; Bell, Katrina M; Oshlack, Alicia; Sadedin, Simon; Georgeson, Peter; Anderson, Charlotte; Thorne, Natalie; Gaff, Clara; White, Susan M.
Afiliação
  • Stark Z; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Tan TY; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Chong B; University of Melbourne, Melbourne, Australia.
  • Brett GR; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Yap P; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Walsh M; Melbourne Genomics Health Alliance, Melbourne, Australia.
  • Yeung A; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Peters H; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Mordaunt D; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Cowie S; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Amor DJ; University of Melbourne, Melbourne, Australia.
  • Savarirayan R; Royal Children's Hospital, Melbourne, Australia.
  • McGillivray G; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Downie L; University of Melbourne, Melbourne, Australia.
  • Ekert PG; Royal Children's Hospital, Melbourne, Australia.
  • Theda C; Murdoch Childrens Research Institute, Melbourne, Australia.
  • James PA; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Yaplito-Lee J; University of Melbourne, Melbourne, Australia.
  • Ryan MM; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Leventer RJ; University of Melbourne, Melbourne, Australia.
  • Creed E; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Macciocca I; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Bell KM; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Oshlack A; University of Melbourne, Melbourne, Australia.
  • Sadedin S; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Georgeson P; University of Melbourne, Melbourne, Australia.
  • Anderson C; Royal Women's Hospital, Melbourne, Australia.
  • Thorne N; Royal Melbourne Hospital, Melbourne, Australia.
  • Melbourne Genomics Health Alliance; Murdoch Childrens Research Institute, Melbourne, Australia.
  • Gaff C; Royal Children's Hospital, Melbourne, Australia.
  • White SM; Murdoch Childrens Research Institute, Melbourne, Australia.
Genet Med ; 18(11): 1090-1096, 2016 11.
Article em En | MEDLINE | ID: mdl-26938784

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Patologia Molecular / Sequenciamento de Nucleotídeos em Larga Escala / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Patologia Molecular / Sequenciamento de Nucleotídeos em Larga Escala / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Newborn Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Austrália