Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
Vallverdú-Prats M et al.
Journal of Personalized Medicine, 2021
Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE et al.
European Review for Medical and Pharmacological Sciences, 2019
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O et al.
Human Mutation, 2019
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
Hall CL et al.
European Journal of Human Genetics : Ejhg, 2018
Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.
Chen CJ et al.
Frontiers in Genetics, 2018
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Haggerty CM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Brugada Syndrome and PKP2: Evidences and uncertainties.
Campuzano O et al.
International Journal of Cardiology, 2016
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).
Hekim N et al.
Omics : a Journal of Integrative Biology, 2016
Diseases caused by mutations in Nav1.5 interacting proteins.
Kyle JW et al.
Cardiac Electrophysiology Clinics, 2014
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Cerrone M et al.
Circulation, 2014