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Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.
Boczek NJ, Ye D, Johnson EK, Wang W, Crotti L, Tester DJ, Dagradi F, Mizusawa Y, Torchio M, Alders M, Giudicessi JR, Wilde AA, Schwartz PJ, Nerbonne JM, Ackerman MJ. Boczek NJ, et al. Among authors: ye d. Circ Res. 2014 Aug 1;115(4):460-9. doi: 10.1161/CIRCRESAHA.115.303657. Epub 2014 Jun 24. Circ Res. 2014. PMID: 24963029 Free PMC article.
Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
Boczek NJ, Miller EM, Ye D, Nesterenko VV, Tester DJ, Antzelevitch C, Czosek RJ, Ackerman MJ, Ware SM. Boczek NJ, et al. Among authors: ye d. Heart Rhythm. 2015 Jan;12(1):211-9. doi: 10.1016/j.hrthm.2014.09.051. Epub 2014 Sep 28. Heart Rhythm. 2015. PMID: 25260352 Free PMC article.
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Among authors: ye d. Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22. Circ Cardiovasc Genet. 2015. PMID: 25904541 Free PMC article.
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 Death.
Boczek NJ, Ye D, Jin F, Tester DJ, Huseby A, Bos JM, Johnson AJ, Kanter R, Ackerman MJ. Boczek NJ, et al. Among authors: ye d. Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1122-32. doi: 10.1161/CIRCEP.115.002745. Epub 2015 Aug 7. Circ Arrhythm Electrophysiol. 2015. PMID: 26253506 Free PMC article.
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 Delay.
Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Weyhrauch DL, et al. Among authors: ye d. Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26739101
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ. Boczek NJ, et al. Among authors: ye d. Circ Cardiovasc Genet. 2016 Apr;9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11. Circ Cardiovasc Genet. 2016. PMID: 26969752 Free PMC article.
3,655 results