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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.
Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions|May 13, 2011
Electrocardiographic changes and arrhythmias following percutaneous atrial septal defect and patent foramen ovale device closureJonathan N Johnson, Michelle L Marquardt, Michael J Ackerman, et al.
Mayo Clinic Proceedings|January 7, 2019
Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry DiseaseDarrell B Newman, William R Miranda, Dietrich Matern, 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.
The Annals of Thoracic Surgery|April 13, 2019
Survival After Myectomy for Obstructive Hypertrophic Cardiomyopathy: What Causes Late Mortality?Anita Nguyen, Hartzell V Schaff, Rick A Nishimura, 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.
Journal of Cellular Biochemistry|August 5, 2006
TGFbeta inducible early gene-1 (TIEG1) and cardiac hypertrophy: Discovery and characterization of a novel signaling pathwayNalini M Rajamannan, Malayannan Subramaniam, Theodore P Abraham, 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.
Circulation|October 21, 2009
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variantsSuraj Kapa, David J Tester, Benjamin A Salisbury, et al.
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