Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy:
      expanded panels offer limited additional sensitivity

Alfares, Ahmed A; Kelly, Melissa A; McDermott, Gregory; Funke, Birgit H; Lebo, Matthew S; Baxter, Samantha B; Shen, Jun; McLaughlin, Heather M; Clark, Eugene H; Babb, Larry J; Cox, Stephanie W; DePalma, Steven R.; Ho, Carolyn Y; Seidman, J G; Seidman, Christine E.; Rehm, Heidi L

doi:10.1038/gim.2014.205

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Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Author(s): Ahmed A. Alfares , Melissa A. Kelly , Gregory McDermott , Birgit H. Funke , Matthew S. Lebo , Samantha B. Baxter , Jun Shen , Heather M. McLaughlin , Eugene H. Clark , Larry J. Babb , Stephanie W. Cox , Steven R. DePalma , Carolyn Y. Ho , J. G. Seidman , Christine E. Seidman , Heidi L. Rehm

Publication date (Electronic): January 22 2015

Journal: Genetics in Medicine

Publisher: Springer Science and Business Media LLC

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Abstract

Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in genes encoding sarcomere proteins. We report genetic testing results for HCM in 2,912 unrelated individuals with nonsyndromic presentations from a broad referral population over 10 years.