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The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Tinker, Rory J; Bastarache, Lisa; Ezell, Kimberly; Kobren, Shilpa Nadimpalli; Esteves, Cecilia; Rosenfeld, Jill A; Macnamara, Ellen F; Hamid, Rizwan; Cogan, Joy D; Rinker, David; Mukharjee, Souhrid; Glass, Ian; Dipple, Katrina; Phillips, John A.
Afiliação
  • Tinker RJ; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Ezell K; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Kobren SN; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.
  • Esteves C; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.
  • Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Macnamara EF; Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Hamid R; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Cogan JD; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Rinker D; Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee, USA.
  • Mukharjee S; Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee, USA.
  • Glass I; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Dipple K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Phillips JA; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Am J Med Genet A ; 191(10): 2482-2492, 2023 10.
Article em En | MEDLINE | ID: mdl-37246601
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Mosaicismo Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Mosaicismo Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos