Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
The Multifunctional Role of KCNE2: From Cardiac Arrhythmia to Multisystem Disorders.
Song M et al.
Cells, 2024
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 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
The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants.
Lopez-Medina AI et al.
Pharmacogenomics, 2022
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
Gray B et al.
Circulation. Genomic and Precision Medicine, 2022
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Martínez-Barrios E et al.
Biomedicines, 2022
Loperamide Toxicity Revealing Apical Hypertrophic Cardiomyopathy.
Khan N et al.
Methodist Debakey Cardiovascular Journal, 2021
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Raju H et al.
Bmc Cardiovascular Disorders, 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
Mechanisms Underlying the Actions of Antidepressant and Antipsychotic Drugs That Cause Sudden Cardiac Arrest.
Sicouri S et al.
Arrhythmia & Electrophysiology Review, 2018
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.
Iivonen AP et al.
Endocrine Connections, 2018
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Munroe PB et al.
Circulation. Genomic and Precision Medicine, 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
Drug-induced fatal arrhythmias: Acquired long QT and Brugada syndromes.
Turker I et al.
Pharmacology & Therapeutics, 2017
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
Atrial arrhythmias in inherited arrhythmogenic disorders.
Hasdemir C
Journal of Arrhythmia, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
[Perioperative treatment of patients with long QT syndrome].
Krönauer T et al.
Der Anaesthesist, 2015
High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
Hasdemir C et al.
Heart Rhythm, 2015
Clinical association between pharmacogenomics and adverse drug reactions.
Zhou ZW et al.
Drugs, 2015
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Riuró H et al.
European Journal of Human Genetics : Ejhg, 2015
Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.
Adams JN et al.
Cardiovascular Diabetology, 2014
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Cardiovascular pharmacogenomics: expectations and practical benefits.
Turner RM et al.
Clinical Pharmacology and Therapeutics, 2014
Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.
Gómez J et al.
Journal of Cardiovascular Translational Research, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
Du C et al.
Physiological Reports, 2013
Genetics of congenital and drug-induced long QT syndromes: current evidence and future research perspectives.
Mahida S et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2013
KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?
Abbott GW
Expert Review of Clinical Pharmacology, 2013
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
Prevalence of Significant Genetic Variants in Congenital Long QT Syndrome is Largely Underestimated.
Zaklyazminskaya EV et al.
Frontiers in Pharmacology, 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
The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.
Hedley PL et al.
Journal of Negative Results in Biomedicine, 2011
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.
Bas T et al.
The Journal of Biological Chemistry, 2011
Common variants in cardiac ion channel genes are associated with sudden cardiac death.
Albert CM et al.
Circulation. Arrhythmia and Electrophysiology, 2010
Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.
Männikkö R et al.
British Journal of Pharmacology, 2010
When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias?
Fowler SJ et al.
Current Opinion in Cardiology, 2010
Targeting device therapy: genomics of sudden death.
Frangiskakis JM et al.
Heart Failure Clinics, 2010
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
Itoh H et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Common candidate gene variants are associated with QT interval duration in the general population.
Marjamaa A et al.
Journal of Internal Medicine, 2009