Associated Papers
Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.
Silajdzija E et al.
Journal of the American Heart Association, 2025
Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.
Rao VJ et al.
Journal of the American Heart Association, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
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
The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death.
Vokač D et al.
Genes, 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
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
Liu X et al.
Cell Discovery, 2023
Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.
Ahmad SA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2022
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Al-Shafai KN et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.
Wu G et al.
Journal of the American Heart Association, 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
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations.
Zhao B et al.
Experimental and Therapeutic Medicine, 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
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
Liu X et al.
Scientific Reports, 2015
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
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
Su M et al.
International Journal of Molecular Sciences, 2014
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
[Echocardiographic study of double mutations of myosin-binding protein C3 gene in Chinese patients with familial hypertrophic cardiomyopathy].
Zhao B et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2013
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
Andersen PS et al.
European Journal of Human Genetics : Ejhg, 2004