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
41445606 (PubMed )
Supplement: media-2.xlsx › File_S2
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2
Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients.
Mester B et al.
Life (basel, Switzerland), 2025
40003559 (PubMed )
Supplement: life-15-00150-s001.zip › Supplementary_Material_S1.pdf
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
Li B et al.
Biochemical and Biophysical Research Communications, 2024
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
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S10
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
Renaux A et al.
Nucleic Acids Research, 2019
31147699 (PubMed )
Supplement: gkz437_supplemental_files.pdf
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
29444113 (PubMed )
Supplement: pone.0191905.s001.pdf
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
Allelic Complexity in Long QT Syndrome: A Family-Case Study.
Zullo A et al.
International Journal of Molecular Sciences, 2017
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
Coll M et al.
International Journal of Legal Medicine, 2016
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
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome.
Kanters JK et al.
Heart Rhythm, 2004
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