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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A; Beaudet, Arthur L; Breman, Amy M; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A; Eng, Christine M; Yang, Yaping; Lupski, James R; Bi, Weimin.
Affiliation
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. by2@bcm.edu.
  • Wang L; Baylor Genetics Laboratory, Houston, TX, USA. by2@bcm.edu.
  • Liu P; Baylor Genetics Laboratory, Houston, TX, USA.
  • Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Dai H; Baylor Genetics Laboratory, Houston, TX, USA.
  • Cooper L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Zhu W; Baylor Genetics Laboratory, Houston, TX, USA.
  • Anderson SA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Meng L; Baylor Genetics Laboratory, Houston, TX, USA.
  • Wang X; Baylor Genetics Laboratory, Houston, TX, USA.
  • Wang Y; Baylor Genetics Laboratory, Houston, TX, USA.
  • Xia F; Baylor Genetics Laboratory, Houston, TX, USA.
  • Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Braxton A; Baylor Genetics Laboratory, Houston, TX, USA.
  • Peacock S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Schmitt E; Baylor Genetics Laboratory, Houston, TX, USA.
  • Ward PA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Vetrini F; Baylor Genetics Laboratory, Houston, TX, USA.
  • He W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Chiang T; Baylor Genetics Laboratory, Houston, TX, USA.
  • Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Gibbs RA; Baylor Genetics Laboratory, Houston, TX, USA.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Breman AM; Baylor Genetics Laboratory, Houston, TX, USA.
  • Smith J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Cheung SW; Baylor Genetics Laboratory, Houston, TX, USA.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Eng CM; Baylor Genetics Laboratory, Houston, TX, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Baylor Genetics Laboratory, Houston, TX, USA.
  • Bi W; Baylor Genetics Laboratory, Houston, TX, USA.
Genet Med ; 22(10): 1633-1641, 2020 10.
Article in En | MEDLINE | ID: mdl-32576985
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Full text: 1 Database: MEDLINE Main subject: INDEL Mutation / DNA Copy Number Variations Type of study: Observational_studies Limits: Child / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Main subject: INDEL Mutation / DNA Copy Number Variations Type of study: Observational_studies Limits: Child / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States