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
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
Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
Immadisetty K et al.
Journal of Molecular and Cellular Cardiology, 2023
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 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
A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.
Oliveira-Mendes B et al.
Clinical and Translational Medicine, 2021
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
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
Foo B et al.
Scientific Reports, 2019
Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia.
Hyltén-Cavallius L et al.
Circulation, 2017
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 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
Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain-domain interactions.
Ke Y et al.
The Biochemical Journal, 2013
Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology.
Struijk JJ et al.
Medical & Biological Engineering & Computing, 2006
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome.
Kanters JK et al.
Heart Rhythm, 2004
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
Larsen LA et al.
Human Mutation, 2001
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
Larsen LA et al.
Clinical Chemistry, 2001
T(peak)T(end) interval in long QT syndrome.
Kanters JK et al.
Journal of Electrocardiology, 0