Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.
Chen L et al.
Circulation, 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
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.
Tadros HJ et al.
The Application of Clinical Genetics, 2023
The 2020 "Padua Criteria" for Diagnosis and Phenotype Characterization of Arrhythmogenic Cardiomyopathy in Clinical Practice.
Graziano F et al.
Journal of Clinical Medicine, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
G790del mutation in DSC2 alone is insufficient to develop the pathogenesis of ARVC in a mouse model.
Hamada Y et al.
Biochemistry and Biophysics Reports, 2020
The complex molecular genetics of arrhythmogenic cardiomyopathy.
Celeghin R et al.
International Journal of Cardiology, 2019
A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
Chen L et al.
International Journal of Cardiology, 2019
The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment.
Krahn AD et al.
The Canadian Journal of Cardiology, 2016
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
Boone PM et al.
Molecular Genetics & Genomic Medicine, 2016
Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Que D 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, 2015
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A et al.
The American Journal of Cardiology, 2015
Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.
Wong JA et al.
Journal of the American Heart Association, 2014
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull B et al.
Circulation. Cardiovascular Genetics, 2013
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T et al.
Journal of the American College of Cardiology, 2010