Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
A case report of mixed left ventricular non-compaction/hypertrophic cardiomyopathy phenotype in a child.
Cirillo C et al.
European Heart Journal. Case Reports, 2025
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.
Ishida H et al.
Circulation. Genomic and Precision Medicine, 2023
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C et al.
Biomolecules, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 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
Functional comparison of phosphomimetic S15D and T160D mutants of myosin regulatory light chain exchanged in cardiac muscle preparations of HCM and WT mice.
Kazmierczak K et al.
Frontiers in Cardiovascular Medicine, 2022
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.
Sitbon YH et al.
Journal of Muscle Research and Cell Motility, 2020
Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.
Sanna A et al.
Pigment Cell & Melanoma Research, 2020
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
Manivannan SN et al.
Plos Genetics, 2020
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.
Maurizi N et al.
Jama Cardiology, 2018
A Novel Missense Mutation p.Gly162Glu of the Gene MYL2 Involved in Hypertrophic Cardiomyopathy: A Pedigree Analysis of a Proband.
Renaudin P et al.
Molecular Diagnosis & Therapy, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.
Cirino AL et al.
Circulation. Cardiovascular Genetics, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
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
Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.
Burghardt TP et al.
Biochemistry, 2013