Associated Papers
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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels.
Zou X et al.
Frontiers in Physiology, 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
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
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
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
Seethala S et al.
Journal of the American Heart Association, 2015
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
Koponen M et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Recent molecular insights from mutated IKS channels in cardiac arrhythmia.
Dvir M et al.
Current Opinion in Pharmacology, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Presentation and outcome of water-related events in children with long QT syndrome.
Albertella L et al.
Archives of Disease in Childhood, 2011
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
Yang T et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Long QT and Brugada syndrome gene mutations in New Zealand.
Chung SK et al.
Heart Rhythm, 2007
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
Choi G et al.
Circulation, 2004