Associated Papers
Age-related penetrance of phospholamban p.Arg14del cardiomyopathy.
Verstraelen TE et al.
European Journal of Heart Failure, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.
Bueno Marinas M et al.
International Journal of Molecular Sciences, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Human Genetics of Cardiomyopathies.
Houweling AC et al.
Advances in Experimental Medicine and Biology, 2024
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Verheul LM et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 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
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2023
Myofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy.
Kumar M et al.
International Journal of Molecular Sciences, 2023
Arrhythmogenic Left Ventricular Cardiomyopathy Associated With a Phospholamban Gene Mutation in a Young Female: A Case Report and Literature Review.
Khan WJ et al.
Journal of Community Hospital Internal Medicine Perspectives, 2023
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT et al.
European Journal of Preventive Cardiology, 2022
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.
Nguyen TV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
Mook OR et al.
Journal of Medical Genetics, 2013
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 2013