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Circulation. Genomic and Precision Medicine|February 18, 2018
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test InterpretationJamie D Kapplinger, Krishna N Pundi, Nicholas B Larson, et al.
Circulation|December 20, 2011
Connexin43 mutation causes heterogeneous gap junction loss and sudden infant deathDavid W Van Norstrand, Angeliki Asimaki, Clio Rubinos, et al.
Heart Rhythm|March 16, 2010
Sudden infant death syndrome-associated mutations in the sodium channel beta subunitsBi-Hua Tan, Kavitha N Pundi, David W Van Norstrand, et al.
Heart Rhythm|September 1, 2009
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testJamie D Kapplinger, David J Tester, Benjamin A Salisbury, et al.
Heart Rhythm|November 26, 2013
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylationDaniel C Bartos, John R Giudicessi, David J Tester, et al.
Heart Rhythm|September 28, 2014
Novel Timothy syndrome mutation leading to increase in CACNA1C window currentNicole J Boczek, Erin M Miller, Dan Ye, et al.
Heart Rhythm|February 26, 2011
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndromeJohn R Giudicessi, Dan Ye, David J Tester, et al.
Journal of Molecular and Cellular Cardiology|July 10, 2004
Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testingDipika Sharma, Kathryn A Glatter, V Timofeyev, et al.
Circulation. Cardiovascular Genetics|April 24, 2015
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium ChannelJamie D Kapplinger, John R Giudicessi, Dan Ye, et al.
Circulation. Genomic and Precision Medicine|August 9, 2024
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional CharacterizationDan Ye, Ramin Garmany, Estefania Martinez-Barrios, et al.
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