Last Updated: 09/26/2026
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Found 10 publications
Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias.
Journal: Circulation. Genomic and precision medicine
Published: October 17, 2022
Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes.
Journal: Stem cell reports
Published: July 27, 2022
Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.
Journal: Stem cell reports
Published: December 30, 2021
Perceptions of Barriers and Facilitators to Becoming a Medical Professional Among Underrepresented Undergraduate and Postbaccalaureate Learners.
Journal: Mayo Clinic proceedings. Innovations, quality & outcomes
Published: May 17, 2021
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.
Journal: Heart rhythm
Published: April 08, 2021
Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.
Journal: Circulation
Published: January 28, 2021
Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members.
Journal: Circulation. Genomic and precision medicine
Published: May 30, 2020
Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.
Journal: Circulation. Genomic and precision medicine
Published: March 14, 2020
MRAS Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Additional Evidence for MRAS as a Definitive Noonan Syndrome-Susceptibility Gene.
Journal: Circulation. Genomic and precision medicine
Published: October 23, 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 Perturbation.
Journal: Circulation. Genomic and precision medicine
Published: August 21, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026