Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation.
Chang-Gonzalez AC et al.
Biorxiv : the Preprint Server for Biology, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
Coll M et al.
International Journal of Molecular Sciences, 2022
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Tomar S et al.
Circulation. Genomic and Precision Medicine, 2022
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics.
Helbig I et al.
Epilepsia, 2018
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ et al.
Heart Rhythm, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013