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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari, Avinash V; Ghosh, Rajarshi; Yuan, Bo; Liu, Pengfei; Dai, Hongzheng; Al Masri, Sami; Scull, Jennifer; Posey, Jennifer E; Jiang, Allen H; He, Weimin; Vetrini, Francesco; Braxton, Alicia A; Ward, Patricia; Chiang, Theodore; Qu, Chunjing; Gu, Shen; Shaw, Chad A; Smith, Janice L; Lalani, Seema; Stankiewicz, Pawel; Cheung, Sau-Wai; Bacino, Carlos A; Patel, Ankita; Breman, Amy M; Wang, Xia; Meng, Linyan; Xiao, Rui; Xia, Fan; Muzny, Donna; Gibbs, Richard A; Beaudet, Arthur L; Eng, Christine M; Lupski, James R; Yang, Yaping; Bi, Weimin.
Afiliación
  • Dharmadhikari AV; Baylor Genetics Laboratories, Houston, TX, USA.
  • Ghosh R; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Yuan B; Baylor Genetics Laboratories, Houston, TX, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Dai H; Baylor Genetics Laboratories, Houston, TX, USA.
  • Al Masri S; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Scull J; Baylor Genetics Laboratories, Houston, TX, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Jiang AH; Baylor Genetics Laboratories, Houston, TX, USA.
  • He W; Baylor Genetics Laboratories, Houston, TX, USA.
  • Vetrini F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Braxton AA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Ward P; Glenda Dawson High School, Pearland, TX, USA.
  • Chiang T; Baylor Genetics Laboratories, Houston, TX, USA.
  • Qu C; Baylor Genetics Laboratories, Houston, TX, USA.
  • Gu S; Baylor Genetics Laboratories, Houston, TX, USA.
  • Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Smith JL; Baylor Genetics Laboratories, Houston, TX, USA.
  • Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Stankiewicz P; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Cheung SW; Baylor Genetics Laboratories, Houston, TX, USA.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Patel A; Baylor Genetics Laboratories, Houston, TX, USA.
  • Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Wang X; Baylor Genetics Laboratories, Houston, TX, USA.
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Xiao R; Baylor Genetics Laboratories, Houston, TX, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Muzny D; Baylor Genetics Laboratories, Houston, TX, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Beaudet AL; Baylor Genetics Laboratories, Houston, TX, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Yang Y; Texas Children's Hospital, Houston, TX, USA.
  • Bi W; Baylor Genetics Laboratories, Houston, TX, USA.
Genome Med ; 11(1): 30, 2019 05 17.
Article en En | MEDLINE | ID: mdl-31101064
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis por Micromatrices / Variaciones en el Número de Copia de ADN / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Genome Med Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis por Micromatrices / Variaciones en el Número de Copia de ADN / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Genome Med Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos