Associated Papers
Truncating Titin and Lamin A/C Variants in Anthracycline-Induced Cardiomyopathy.
Advani PP et al.
Jacc. Advances, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Al Azri K et al.
Journal of the Saudi Heart Association, 2025
The Multifunctional Role of KCNE2: From Cardiac Arrhythmia to Multisystem Disorders.
Song M et al.
Cells, 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
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 2024
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Post-mortem genetic investigation in sudden cardiac death victims: complete exon sequencing of forty genes using next-generation sequencing.
Fadoni J et al.
International Journal of Legal Medicine, 2022
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.
Belletti R et al.
Frontiers in Physiology, 2021
RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.
Liatakis I et al.
American Journal of Cardiovascular Disease, 2021
Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.
Montaño A et al.
Journal of Personalized Medicine, 2020
Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.
Sarquella-Brugada G et al.
Frontiers in Pediatrics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC et al.
Epilepsy Research, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6.
Heida A et al.
Case Reports in Medicine, 2019
A unique triadin exon deletion causing a null phenotype.
O'Callaghan BM et al.
Heartrhythm Case Reports, 2018
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg AK et al.
European Journal of Human Genetics : Ejhg, 2018
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?
Leinonen JT et al.
International Journal of Cardiology, 2018
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Marcondes L et al.
Plos One, 2018
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Comorbid Epilepsy and Developmental Disorders in Congenital Long QT Syndrome With Life-Threatening Perinatal Arrhythmias.
Miyazaki A et al.
Jacc. Clinical Electrophysiology, 2016
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Bowles NE et al.
American Journal of Medical Genetics. Part A, 2015
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.
Ghouse J et al.
European Heart Journal, 2015
Clinical association between pharmacogenomics and adverse drug reactions.
Zhou ZW et al.
Drugs, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Olesen MS et al.
Heart Rhythm, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation.
Nielsen JB et al.
Biomarkers in Medicine, 2014
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Short QT syndrome presenting with atrial fibrillation and LV hypertrophy.
Zienciuk-Krajka A et al.
International Journal of Cardiology, 2012
The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.
Eldstrom J et al.
Expert Reviews in Molecular Medicine, 2011
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Heron SE et al.
Epilepsia, 2010
KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.
Wu J et al.
Heart Rhythm, 2010