Associated Papers
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 2025
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
Šukys M et al.
International Journal of Molecular Sciences, 2025
Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.
Chung H et al.
Korean Circulation Journal, 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
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department.
Horgan S et al.
Journal of Medical Genetics, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.
Spudich JA et al.
The Embo Journal, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 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
Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.
Glavaški M et al.
Medicina (kaunas, Lithuania), 2023
Comprehensive genetic analyses of childhood acute leukemia in Iraq using next-generation sequencing.
Al-Kzayer LFY et al.
Translational Pediatrics, 2023
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
Liu X et al.
Cell Discovery, 2023
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.
Liang Y et al.
Plos Genetics, 2022
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 2022
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
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized 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
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Hughes RK et al.
Journal of the American Heart Association, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
de Feria AE et al.
Open Heart, 2021
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Pua CJ et al.
Circulation. Genomic and Precision Medicine, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy.
Tran Vu MT et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2019
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.
Nicora G et al.
Human Mutation, 2018
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
Dejgaard LA et al.
Data in Brief, 2017
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Burns C et al.
Circulation. Cardiovascular Genetics, 2017
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.
Ross SB et al.
Circulation. Cardiovascular Genetics, 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
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 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
Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach.
Kumar A et al.
Gene, 2013
Population-based variation in cardiomyopathy genes.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2012