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
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.
Bileisiene N et al.
Bmc Cardiovascular Disorders, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Koutsofti C et al.
Genes, 2024
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
Righi D et al.
Pediatric Cardiology, 2023
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
Bora E et al.
Molecular Syndromology, 2023
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
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.
Sarquella-Brugada G et al.
Frontiers in Pediatrics, 2021
Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.
Strand S et al.
Circulation. Arrhythmia and Electrophysiology, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.
Dufendach KA et al.
Jacc. Clinical Electrophysiology, 2018
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease.
Ebrahim MA et al.
The American Journal of Cardiology, 2017
Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr.
Smith JD et al.
Heartrhythm Case Reports, 2017
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
A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.
Kinoshita K et al.
Journal of Molecular and Cellular Cardiology, 2014
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.
Couderc JP et al.
Journal of the American Heart Association, 2012
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
Sato A et al.
The Journal of Biological Chemistry, 2009
Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.
Millat G et al.
Pediatric Cardiology, 2009
Kv7.1 (KCNQ1) properties and channelopathies.
Peroz D et al.
The Journal of Physiology, 2008
[Mutational analysis of LQT genes in individuals with drug induced QT interval prolongation].
Novotný T et al.
Vnitrni Lekarstvi, 2006
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
[Neonatal forms of congenital long QT syndrome].
Lupoglazoff JM et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux, 2004
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
Lupoglazoff JM et al.
Journal of the American College of Cardiology, 2004
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