Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy.
Chumakova A et al.
Scientific Reports, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.
Su W et al.
Frontiers in Cardiovascular Medicine, 2025
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.
Caroselli S et al.
Human Mutation, 2025
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
Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.
Spudich JA et al.
The Embo Journal, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 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
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 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
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
Dejgaard LA et al.
Data in Brief, 2017
Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.
Zhao Y et al.
International Journal of 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
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li MH et al.
Human Genomics, 2015
A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.
Oliveira TG et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.
Chiou KR et al.
Journal of Cardiology, 2015
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
Marsiglia JD et al.
American Heart Journal, 2013
Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.
Funada A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy.
Christiaans I et al.
Heart Rhythm, 2009
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