Associated Papers
Sudden death-associated KCNH2 variants exert opposing effects on a nuclear subdomain of the cardiac potassium channel hERG1.
Sanchez-Conde FG et al.
The Journal of Biological Chemistry, 2026
Sudden Death-Associated KCNH2 Variants Have Opposing Effects on hERG1NP Function.
Sanchez-Conde FG et al.
Biorxiv : the Preprint Server for Biology, 2025
Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.
Liu H et al.
Pacing and Clinical Electrophysiology : Pace, 2025
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
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.
Farrugia A et al.
International Journal of Molecular Sciences, 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
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.
Ferrarini A et al.
Plos One, 2015
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Assessment of microvolt T-wave alternans in high-risk patients with the congenital long-QT syndrome.
Schmitt J et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2009
Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.
Biliczki P et al.
Heart Rhythm, 2008
From broad vision to focused actions: handling the complexity of genotype-phenotype association in long QT syndromes.
Ruan Y
Heart Rhythm, 2008
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005