Associated Papers
Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.
Chung H et al.
Korean Circulation Journal, 2025
Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.
Tu LT et al.
Diagnostics (basel, Switzerland), 2025
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation 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
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.
Shen C et al.
Annals of Translational 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
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
Incidence, Clinical Characteristics, and Long-term Outcome of the Dilated Phase of Hypertrophic Cardiomyopathy.
Aizawa Y et al.
The Keio Journal of Medicine, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular 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
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
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
Liu W et al.
The American Journal of Cardiology, 2013
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
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
Otsuka H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
Dilated phase of hypertrophic cardiomyopathy caused by two different sarcomere mutations, treated with surgical left ventricular reconstruction and cardiac resynchronization therapy with a defibrillator.
Sato A et al.
Internal Medicine (tokyo, Japan), 2012
[Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy].
Yang J et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2011
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Millat G et al.
European Journal of Medical Genetics, 0