Associated Papers
India-specific cardiogenetic aspects: focus on Cardiomyopathies and Inherited Arrhythmia Syndromes.
Chockalingam P et al.
Indian Pacing and Electrophysiology Journal, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
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
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
35747179 (PubMed )
Supplement: mmc1.pdf
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
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
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
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
Bashyam MD et al.
Molecular and Cellular Biochemistry, 2012
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