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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015

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

Abstract excerpt

PURPOSE: 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. METHODS: Genetic testing was performed by Sanger sequencing for 10 genes from 2004 to 2007, by HCM CardioChip for 11 genes from 2007 to...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 25611685
DOI: 10.1038/gim.2014.205

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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