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A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Hunter, Jessica Ezzell; Irving, Stephanie A; Biesecker, Leslie G; Buchanan, Adam; Jensen, Brian; Lee, Kristy; Martin, Christa Lese; Milko, Laura; Muessig, Kristin; Niehaus, Annie D; O'Daniel, Julianne; Piper, Margaret A; Ramos, Erin M; Schully, Sheri D; Scott, Alan F; Slavotinek, Anne; Sobreira, Nara; Strande, Natasha; Weaver, Meredith; Webber, Elizabeth M; Williams, Marc S; Berg, Jonathan S; Evans, James P; Goddard, Katrina A B.
Affiliation
  • Hunter JE; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
  • Irving SA; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
  • Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Buchanan A; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
  • Jensen B; Division of Cardiology, University of North Carolina School of Medicine, McAllister Heart Institute, Chapel Hill, North Carolina, USA.
  • Lee K; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Martin CL; Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
  • Milko L; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Muessig K; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
  • Niehaus AD; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • O'Daniel J; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Piper MA; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
  • Ramos EM; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Schully SD; Office of Disease Prevention, National Institutes of Health, Bethesda, Maryland, USA.
  • Scott AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Slavotinek A; Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.
  • Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Strande N; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Weaver M; American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
  • Webber EM; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
  • Williams MS; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
  • Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Evans JP; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Goddard KA; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
Genet Med ; 18(12): 1258-1268, 2016 12.
Article in En | MEDLINE | ID: mdl-27124788
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetic Testing / Genomics / Genetic Diseases, Inborn Type of study: Guideline / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetic Testing / Genomics / Genetic Diseases, Inborn Type of study: Guideline / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos