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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Gambin, Tomasz; Liu, Qian; Karolak, Justyna A; Grochowski, Christopher M; Xie, Nina G; Wu, Lucia R; Yan, Yan Helen; Cao, Ye; Coban Akdemir, Zeynep H; Wilson, Theresa A; Jhangiani, Shalini N; Chen, Ed; Eng, Christine M; Muzny, Donna; Posey, Jennifer E; Yang, Yaping; Zhang, David Y; Shaw, Chad; Liu, Pengfei; Lupski, James R; Stankiewicz, Pawel.
Afiliação
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu Q; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
  • Karolak JA; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Xie NG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Wu LR; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
  • Yan YH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Cao Y; Department of Bioengineering, Rice University, Houston, TX, USA.
  • Coban Akdemir ZH; Department of Bioengineering, Rice University, Houston, TX, USA.
  • Wilson TA; NuProbe USA, Inc, Houston, TX, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Chen E; Baylor Genetics, Houston, TX, USA.
  • Eng CM; Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
  • Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Zhang DY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu P; Baylor Genetics, Houston, TX, USA.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Genet Med ; 22(11): 1768-1776, 2020 11.
Article em En | MEDLINE | ID: mdl-32655138
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma / Mosaicismo Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma / Mosaicismo Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos