Associated Papers
India-specific cardiogenetic aspects: focus on Cardiomyopathies and Inherited Arrhythmia Syndromes.
Chockalingam P et al.
Indian Pacing and Electrophysiology Journal, 2026
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
Ribeiro M et al.
Human Cell, 2024
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
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants.
Manhas A et al.
Stem Cell Research, 2022
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
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
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
Wessels MW et al.
European Journal of Human Genetics : Ejhg, 2015
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
Bashyam MD et al.
Molecular and Cellular Biochemistry, 2012