Associated Papers
Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review.
Jin M et al.
Bmc Pediatrics, 2025
Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.
Adolfsson E et al.
International Journal of Legal Medicine, 2023
Genetic testing in monogenic early-onset atrial fibrillation.
Chalazan B et al.
European Journal of Human Genetics : Ejhg, 2023
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
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
From Genotype to Phenotype.
Mackley M et al.
Circulation. Genomic and Precision Medicine, 2018
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.
Gibbs C et al.
Journal of the American Heart Association, 2018
Epilepsy in patients with long QT syndrome type 1: A Norwegian family.
González A et al.
Epilepsy & Behavior Case Reports, 2018
The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?
Früh A et al.
Heart Rhythm, 2016
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