Associated Papers
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
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.
Samol A et al.
Plos One, 2016
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS et al.
European Heart Journal, 2012
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
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
Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
Nemec J et al.
Pacing and Clinical Electrophysiology : Pace, 2003
Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest.
Nemec J et al.
Mayo Clinic Proceedings, 2003
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
Ackerman MJ et al.
Mayo Clinic Proceedings, 1999