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Congenital Heart Disease|July 26, 2016
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular SyndromeJaeger P Ackerman, John A Smestad, David J Tester, et al.
Heart Rhythm|February 2, 2023
Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapiesMarissa J Stutzman, Xiaozhi Gao, Maengjo Kim, et al.
Channels (Austin, Tex.)|July 10, 2018
Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patientsRou-Mu Hu, David J Tester, Ryan Li, et al.
Heart Rhythm O2|May 1, 2023
SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndromeMaengjo Kim, Saumya Das, David J Tester, et al.
Heart Rhythm|May 31, 2025
The clinical and electrocardiographic phenotype of patients with genotype-negative long QT syndromeVanessa Karlinski Vizentin, Raquel Neves, Sahej Bains, et al.
Pediatric Neurology|January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelayDerek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.
Heart Rhythm|July 5, 2005
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variantsBi-Hua Tan, Carmen R Valdivia, Benjamin A Rok, et al.
Circulation. Genomic and Precision Medicine|August 21, 2019
Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel PerturbationSteven I Estes, Dan Ye, Wei Zhou, et al.
Circulation Research|September 9, 2008
Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndromeHarinath Sale, Jinling Wang, Thomas J O'Hara, et al.
Circulation. Arrhythmia and Electrophysiology|August 9, 2015
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac DeathNicole J Boczek, Dan Ye, Fang Jin, et al.
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