Associated Papers
Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.
Pinci S et al.
Communications Medicine, 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
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 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
Pregnancy in Women with Arrhythmogenic Left Ventricular Cardiomyopathy.
Bariani R et al.
Journal of Clinical Medicine, 2022
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure.
Christensen AH et al.
Journal of Medical Genetics, 2022
Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation-a case report.
Lao N et al.
European Heart Journal. Case Reports, 2021
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
Abicht A et al.
Cardiovascular Diagnosis and Therapy, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes.
Alhammad RM et al.
Neuromuscular Disorders : Nmd, 2020
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017