Associated Papers
Development of a comprehensive cardiovascular disease genetic risk assessment test.
Amendola LM et al.
Genetics in Medicine Open, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients.
Yang J et al.
Orphanet Journal of Rare Diseases, 2025
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2025
Pharmacogenomics in cardiac therapy: Personalizing treatment for heart health.
Naderi N et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
A machine learning platform for genotype-specific cardiotoxicity risk prediction using patient-derived iPSC-CMs.
Park YG et al.
Journal of Advanced Research, 2025
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA 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, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study.
Grondin S et al.
Journal of the American College of Cardiology, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies.
Li Tan SM et al.
Arrhythmia & Electrophysiology Review, 2025
Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience.
Lee J et al.
Korean Circulation Journal, 2024
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.
Merc MD et al.
Prenatal Diagnosis, 2024
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.
Ma JG et al.
Circulation. Genomic and Precision Medicine, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment test.
Amendola LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms.
Chen Z et al.
Journal of Affective Disorders, 2024
Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study.
Lopez-Medina AI et al.
Pharmacogenomics, 2024
Molecular autopsy for sudden death in Japan.
Yamamoto T et al.
Journal of Toxicologic Pathology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation.
Jeong JH 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, 2023
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P et al.
International Journal of Legal Medicine, 2023
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 2023
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
Bora E et al.
Molecular Syndromology, 2023
The impact of genetics on the long QT syndrome: myth or reality?
Schwartz PJ et al.
Current Opinion in Cardiology, 2023
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Biorxiv : the Preprint Server for Biology, 2023
Curcumin, a dietary natural supplement, prolongs the action potential duration of KCNE1-D85N-induced pluripotent stem cell-derived cardiomyocytes.
Martinez K et al.
Heart Rhythm, 2023
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease.
Auricchio A 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, 2023
The Advantages, Challenges, and Future of Human-Induced Pluripotent Stem Cell Lines in Type 2 Long QT Syndrome.
Cai D et al.
Journal of Cardiovascular Translational Research, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
Cardiac Repolarization in Health and Disease.
Krijger Juárez C et al.
Jacc. Clinical Electrophysiology, 2023
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ et al.
Nature Communications, 2022
The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants.
Lopez-Medina AI et al.
Pharmacogenomics, 2022
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM et al.
Circulation, 2022
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Zaklyazminskaya E et al.
Genes, 2022
Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.
Wada Y et al.
Circulation, 2022
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Martínez-Barrios E et al.
Biomedicines, 2022
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.
Nakajima T et al.
Plos One, 2022