The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

By Trevor J Pugh, M. Kelly, Sivakumar Gowrisankar, Elizabeth D. Hynes, M. Seidman, Samantha M. Baxter, M. Bowser, Bryan Harrison, Daniel Aaron, Lisa Mahanta and 6 more. 2014

349 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine

Citations in the corpus

• Adaptation and Validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel (2018, neutral): “MYH7 is the second most common inherited cause of HCM and third most common inherited cause of DCM, primarily due to missense variants that are dominantly inherited, though de novo variants have been reported 14,15 .”
• Dilated Cardiomyopathy: Genetic Determinants and Mechanisms (2017, neutral): “of positive testing increased from 10% to 40%, the number of variant of uncertain significance increased 10-fold.(13,52,146)”