Associated Papers
Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation.
Li X et al.
Functional & Integrative Genomics, 2026
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
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K et al.
European Journal of Human Genetics : Ejhg, 2023
Recessive variants in plakophilin-2 contributes to early-onset arrhythmogenic cardiomyopathy with severe heart failure.
Chen K 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, 2019
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.
Fan LL et al.
Cardiology in the Young, 2018
A novel mutation of dipeptidyl aminopeptidase-like protein-6 in a family with suspicious idiopathic ventricular fibrillation.
Ding DB et al.
Qjm : Monthly Journal of the Association of Physicians, 2018
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Hoorntje ET et al.
Plos One, 2018
30161220 (PubMed )
Supplement: pone.0203078.s001.xlsx › S1_Table
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.
Soveizi M et al.
Annals of Human Genetics, 2017
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