Associated Papers
High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.
Dolder RE et al.
Circulation. Genomic and Precision Medicine, 2026
Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Friedman CE et al.
Circulation. Genomic and Precision Medicine, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Mitochondrial dysfunction in human hypertrophic cardiomyopathy is linked to cardiomyocyte architecture disruption and corrected by improving NADH-driven mitochondrial respiration.
Nollet EE et al.
European Heart Journal, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
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
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Stroeks SLVM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Marstrand P et al.
Circulation, 2020
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ et al.
Circulation. Heart Failure, 2018
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Coppini R et al.
Journal of the American College of Cardiology, 2014
Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging.
Olivotto I et al.
Circulation. Heart Failure, 2012
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
Olivotto I et al.
Journal of the American College of Cardiology, 2011