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
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
KCNQ1 Polymorphism in the Context of Ischemic Cardiomyopathy: A Potential Key to Decision-Making for Device Implantation.
Özkan U et al.
Clinical Cardiology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M 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
The multigenerational impact of long QT syndrome: A Gitxsan perspective.
Huisman LA et al.
Journal of Genetic Counseling, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Long-term Monitoring to Detect Risk of Sudden Cardiac Death in Inherited Arrhythmia Patients.
Domain G et al.
Cjc Open, 2024
The Impact of Chronic Disease on the Corrected QT (QTc) Value in Women in a British Columbia First Nations Population.
Marchand M et al.
The Canadian Journal of Cardiology, 2024
A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management.
Bene Watts S et al.
Frontiers in Pediatrics, 2024
Long-QT Syndrome with Peripartum Cardiomyopathy Causing Fatal Ventricular Arrhythmia after Delivery.
Nakatsukasa T et al.
International Heart Journal, 2023
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
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
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Streeten EA et al.
Circulation. Genomic and Precision Medicine, 2020
Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women.
Huisman LA et al.
Journal of Genetic Counseling, 2020
Epidemiology of inherited arrhythmias.
Offerhaus JA et al.
Nature Reviews. Cardiology, 2020
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.
Pottinger TD et al.
Journal of the American Heart Association, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Kapplinger JD et al.
Journal of Medical Genetics, 2017
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.
Swayne LA et al.
Circulation. Cardiovascular Genetics, 2017
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Natarajan P et al.
Science Translational Medicine, 2016
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B et al.
American Journal of Medical Genetics. Part A, 2016
Intracardiac T-Wave Alternans and Ventricular Arrhythmia in Long-QT Syndrome.
Padfield GJ et al.
Journal of Cardiovascular Electrophysiology, 2015
Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.
Eldstrom J et al.
Heart Rhythm, 2015
LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.
Jackson HA et al.
Clinical Genetics, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.
Eldstrom J et al.
The Journal of General Physiology, 2010
Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model.
Nishio H et al.
International Journal of Legal Medicine, 2009
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
Arbour L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.
Patoine D et al.
The Canadian Journal of Cardiology, 0
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z et al.
Journal of Electrocardiology, 0