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
Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?
Mazzanti A et al.
European Heart Journal Supplements : Journal of the European Society of Cardiology, 2025
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37066275 (PubMed )
Supplement: media-4.docx
Multimodality Imaging in Arrhythmogenic Left Ventricular Cardiomyopathy.
Monda E et al.
Journal of Clinical Medicine, 2023
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
29253866 (PubMed )
Supplement: pone.0189489.s006.docx
Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model.
Moncayo-Arlandi J et al.
Human Molecular Genetics, 2016
Sudden Cardiac Arrest and Rare Genetic Variants in the Community.
Milano A et al.
Circulation. Cardiovascular Genetics, 2016
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