Associated Papers
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Cryo-EM structure of the folded-back state of human β-cardiac myosin.
Grinzato A et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
García-Giustiniani D et al.
Heart (british Cardiac Society), 2015
Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.
Fujino N et al.
Clinical Cardiology, 2013
Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.
Maron MS et al.
Circulation. Cardiovascular Imaging, 2012
Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy.
Maron BJ et al.
The American Journal of Cardiology, 2011
Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.
Funada A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P et al.
Circulation, 2003
Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.
Chockalingam P et al.
Indian Heart Journal, 0