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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman, Kelly D; Shinde, Deepali N; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zöe; Chao, Elizabeth C; Alcaraz, Wendy A; Helbig, Katherine L; Sajan, Samin A; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nuñes, Mark E; Tang, Sha.
Afiliação
  • Farwell Hagman KD; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Shinde DN; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Mroske C; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Smith E; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Radtke K; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Shahmirzadi L; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • El-Khechen D; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Powis Z; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Chao EC; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Alcaraz WA; Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
  • Helbig KL; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Rossi M; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Lu HM; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Huether R; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Li S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Wu S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Nuñes ME; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Tang S; Department of Genetics, Kaiser Permanente, San Diego, California, USA.
Genet Med ; 19(2): 224-235, 2017 02.
Article em En | MEDLINE | ID: mdl-27513193
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estudos de Associação Genética / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estudos de Associação Genética / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos