Associated Papers
Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.
Rimskaya EM et al.
Gene, 2026
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
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants.
Eser M et al.
Brain & Development, 2025
Spectrum of genetic variants detected in children tested for long QT syndrome.
Kemezyte A et al.
Bmc Cardiovascular Disorders, 2025
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
Bukaeva A et al.
International Journal of Molecular Sciences, 2024
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
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K et al.
European Journal of Human Genetics : Ejhg, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 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
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.
Singer ES et al.
Circulation. Genomic and Precision Medicine, 2019
Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.
Hylind RJ et al.
The Journal of Innovations in Cardiac Rhythm Management, 2018
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Uysal F et al.
Bmc Medical Genetics, 2017
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Kapplinger JD et al.
Journal of Medical Genetics, 2017
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.
Winbo A et al.
Scandinavian Cardiovascular Journal : Scj, 2015
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
Winbo A et al.
Bmc Cardiovascular Disorders, 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
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
Winbo 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, 2012
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
Bhuiyan ZA et al.
Progress in Biophysics and Molecular Biology, 0
Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.
Chockalingam P et al.
Indian Heart Journal, 0