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Journal of the American College of Cardiology|November 21, 2009
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysisArgelia Medeiros-Domingo, Zahurul A Bhuiyan, David J Tester, et al.Journal of the American College of Cardiology|August 17, 2023
Return-to-Play for Elite Athletes With Genetic Heart Diseases Predisposing to Sudden Cardiac DeathKatherine A Martinez, J Martijn Bos, Aaron L Baggish, et al.The Journal of Biological Chemistry|September 25, 2002
Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related GeneElon C Roti Roti, Cena D Myers, Rebecca A Ayers, et al.Circulation. Genomic and Precision Medicine|May 22, 2019
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain SignificanceJohn R Giudicessi, Krystien V V Lieve, Ram K Rohatgi, et al.JCI Insight|March 15, 2017
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophyErin M Higgins, J Martijn Bos, Heather Mason-Suares, et al.Biochimica Et Biophysica Acta. Proteins and Proteomics|August 6, 2021
Mapping human calreticulin regions important for structural stabilityEvaldas Čiplys, Tautvydas Paškevičius, Eimantas Žitkus, et al.Heart Rhythm|November 19, 2021
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndromeSahej Bains, Steven M Dotzler, Christian Krijger, et al.Journal of the American College of Cardiology|July 18, 2009
Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathyTakuro Arimura, J Martijn Bos, Akinori Sato, et al.Circulation|September 24, 2008
Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathyMartin S Maron, John J Finley, J Martijn Bos, et al.Molecular Pharmacology|April 27, 2005
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndromeBrian P Delisle, Jessica K Slind, Jennifer A Kilby, et al.Pageof 73