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
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.
Lv C et al.
Nature Communications, 2025
Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies.
Wu Y et al.
Frontiers in Genetics, 2025
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 2022
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR et al.
European Heart Journal, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.
Moriki T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2021
Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy.
Nakashima Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
Disease mutations in striated muscle myosins.
Parker F et al.
Biophysical Reviews, 2020
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
Hershkovitz T et al.
American Journal of Medical Genetics. Part A, 2019
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.
Kubo T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2011
A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.
Hirota T et al.
Journal of Cardiology, 2010
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.
Anan R et al.
Human Mutation, 2000
[Genotype-phenotype correlations in familial hypertrophic cardiomyopathy].
Anan R et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000
The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy.
Wang B et al.
Cardiology, 0