Associated Papers
AAV-TNNI3 rescues an experimental murine Tnni3 mutation resulting in thin filament mediated DCM.
Bushway PJ et al.
Journal of Molecular and Cellular Cardiology, 2026
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 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
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy.
Harikrishnan S et al.
International Journal of Cardiology, 2024
Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experience.
Cuesta-Llavona E et al.
European Journal of Preventive Cardiology, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart 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
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Joy G et al.
Circulation, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report.
Osadnik T et al.
Kardiologia Polska, 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
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 2021
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
A Pilot Study on the Whole Exome Sequencing of Prostate Cancer in the Indian Phenotype Reveals Distinct Polymorphisms.
Gupta A et al.
Frontiers in Genetics, 2020
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Marey I et al.
Open Medicine (warsaw, Poland), 2020
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R et al.
Genome Medicine, 2019
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J 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
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD et al.
Journal of Cardiovascular Translational Research, 2014
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Teirlinck CH et al.
Bmc Medical Genetics, 2012
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
Coto E et al.
The Journal of Molecular Diagnostics : Jmd, 2012
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