Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC 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, 2026
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.
Hancox JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Preclinical short QT syndrome models: studying the phenotype and drug-screening.
Fan X 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, 2022
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.
Butler A et al.
Heliyon, 2019
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT et al.
International Journal of Cardiology, 2015
Long-term follow-up of a pediatric cohort with short QT syndrome.
Villafañe J et al.
Journal of the American College of Cardiology, 2013
Genetics of cardiac electrical disease.
Perrin MJ et al.
The Canadian Journal of Cardiology, 2013
The genetics of cardiac disease associated with sudden cardiac death: a paper from the 2011 William Beaumont Hospital Symposium on molecular pathology.
Perrin MJ et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Genetics of sudden cardiac death.
Barsheshet A et al.
Current Cardiology Reports, 2011
Proposed diagnostic criteria for short QT syndrome are badly founded.
Bjerregaard P
Journal of the American College of Cardiology, 2011
The short QT syndrome: proposed diagnostic criteria.
Gollob MH et al.
Journal of the American College of Cardiology, 2011
Rapid genetic testing facilitating the diagnosis of short QT syndrome.
Redpath CJ et al.
The Canadian Journal of Cardiology, 2009