Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up.
Nawaz A et al.
Frontiers in Cardiovascular Medicine, 2025
Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy.
Hiruma T et al.
Jacc. Heart Failure, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
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
Genotype-Driven Pathogenesis of Atrial Fibrillation in Hypertrophic Cardiomyopathy: The Case of Different TNNT2 Mutations.
Pioner JM et al.
Frontiers in Physiology, 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
Genetic Testing in Patients with Hypertrophic Cardiomyopathy.
Bonaventura J et al.
International Journal of Molecular Sciences, 2021
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Osborn DPS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.
Lopes LR et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.
Teramoto R et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2018
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.
Tobita T et al.
Scientific Reports, 2018
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
Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
Nomura A et al.
Journal of Cardiology, 2016
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
Ripoll-Vera T et al.
Revista Espanola De Cardiologia (english Ed.), 2016
Identification of a mutation causing hypertrophic cardiomyopathy using whole exome sequencing: A proof-of-concept.
Morita H
Journal of Cardiology, 2016
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
Zou Y et al.
Molecular Biology Reports, 2013
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
Fokstuen S et al.
Human Mutation, 2008