Associated Papers
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.
Tarantino A et al.
European Heart Journal, 2024
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Cava F et al.
Frontiers in Cardiovascular Medicine, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS et al.
Nature Communications, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Clinical and genetic profile of congenital long QT syndrome in Hong Kong: a 20-year experience in paediatrics.
Kwok SY et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Al-Hassnan ZN et al.
Heart Rhythm, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes.
Harmer SC et al.
Biological Chemistry, 2016
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
Slaats GG et al.
Journal of Cell Science, 2015
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A et al.
Frontiers in Cellular Neuroscience, 2015
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
Harmer SC et al.
The Biochemical Journal, 2014
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
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
Jons C et al.
Journal of Cardiovascular Electrophysiology, 2009
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z et al.
Journal of Electrocardiology, 0