Associated Papers
Inflammatory Features in Homozygous DSG2 Cardiomyopathy Mimicking Cardiac Sarcoidosis.
Parianos D et al.
Jacc. Case Reports, 2025
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.
Chen L et al.
Circulation, 2025
Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.
Tseng ZH et al.
Jacc. Clinical Electrophysiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E et al.
Journal of Cardiovascular Translational Research, 2023
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.
Vähätalo JH et al.
Frontiers in Cardiovascular Medicine, 2021
Familial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports.
Costa S et al.
Journal of Clinical Medicine, 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
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC et al.
American Journal of Human Genetics, 2018
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Tester DJ et al.
Journal of the American College of Cardiology, 2018
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Haggerty CM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Tan BY et al.
Journal of Cardiovascular Translational Research, 2010
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Fressart V 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, 2010