Associated Papers
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
37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.
Tadros HJ et al.
The Application of Clinical Genetics, 2023
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
Hutchcraft ML et al.
Journal of Personalized Medicine, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 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
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
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
Pilichou K et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Unraveling Missing Genes and Missing Inheritance in Arrhythmogenic Cardiomyopathy.
Chen SN et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A et al.
The American Journal of Cardiology, 2015
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
De Bortoli M et al.
European Journal of Human Genetics : Ejhg, 2010
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