Associated Papers
A Genome-Wide Association Study Reveals Desmoglein-2 Predominance in Japanese Arrhythmogenic Cardiomyopathy.
Ishikawa T et al.
Journal of Arrhythmia, 2026
Generation of a PKP2 heterozygous knockout pig model of arrhythmogenic cardiomyopathy.
Li HH et al.
Zoological Research, 2026
Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.
Rimskaya EM et al.
Gene, 2026
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
The role of genetic testing in suspected fulminant myocarditis: A case report.
Mistrulli R et al.
Molecular Genetics and Metabolism Reports, 2023
Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.
Di Luca DG et al.
Movement Disorders Clinical Practice, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Goudal A et al.
Human Mutation, 2022
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.
Hylind RJ et al.
Circulation. Genomic and Precision Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
Usefulness of Genetic Study by Next-generation Sequencing in High-risk Arrhythmogenic Cardiomyopathy.
Ruiz Salas A et al.
Revista Espanola De Cardiologia (english Ed.), 2018
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Hoorntje ET et al.
Plos One, 2018
Induced pluripotent stem cells in the inherited cardiomyopathies: From disease mechanisms to novel therapies.
Ross SB et al.
Trends in Cardiovascular Medicine, 2016