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
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
39969993 (PubMed )
Supplement: pnas.2412971122.sd02.xlsx › Sheet1
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 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
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2018
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 2018
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels.
Stead LF et al.
Bioinformatics (oxford, England), 2011
Cardiac channelopathies and sudden infant death syndrome.
Tfelt-Hansen J et al.
Cardiology, 2011
Sudden infant death syndrome: do ion channels play a role?
Van Norstrand DW et al.
Heart Rhythm, 2009
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.
Wedekind H et al.
International Journal of Legal Medicine, 2006
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