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Cheng, Jianding; Van Norstrand, David W.; Medeiros Domingo, Argelia; Tester, David J.; Valdivia, Carmen R.; Tan, Bi-Hua; Vatta, Matteo; Makielski, Jonathan C.; Ackerman, Michael J. (2011). LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype. Cardiogenetics, 1(1) PAGEPress
Tester, David J.; Tan, Bi-Hua; Medeiros Domingo, Argelia; Song, Chunhua; Makielski, Jonathan C.; Ackerman, Michael J. (2011). Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome. Circulation - cardiovascular genetics, 4(5), pp. 510-515. Lippincott Williams & Wilkins 10.1161/CIRCGENETICS.111.960195
Medeiros Domingo, Argelia; Tan, Bi-Hua; Crotti, Lia; Tester, David J.; Eckhardt, Lee; Cuoretti, Alessandra; Kroboth, Stacie L.; Song, Chunhua; Zhou, Qing; Kopp, Doug; Schwartz, Peter J.; Makielski, Jonathan C; Ackerman, Michael J. (2010). Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart rhythm, 7(10), pp. 1466-1471. Elsevier 10.1016/j.hrthm.2010.06.016
Tan, Bi-Hua; Pundi, Kavitha N.; Van Norstrand, David W; Valdivia, Carmen R.; Tester, David J.; Medeiros Domingo, Argelia; Makielski, Jonathan C.; Ackerman, Michael J. (2010). Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart rhythm, 7(6), pp. 771-778. Elsevier 10.1016/j.hrthm.2010.01.032
Medeiros Domingo, Argelia; Tan, Bi-Hua; Iturralde-Torres, Pedro; Tester, David J.; Tusié-Luna, Teresa; Makielski, Jonathan C.; Ackerman, Michael J. (2009). Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. Heart rhythm, 6(8), pp. 1170-1175. Elsevier 10.1016/j.hrthm.2009.04.034
Tan, Bi-Hua; Iturralde-Torres, Pedro; Medeiros Domingo, Argelia; Nava, Santiago; Tester, David J.; Valdivia, Carmen R.; Tusié-Luna, Teresa; Ackerman, Michael J.; Makielski, Jonathan C. (2007). A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. Cardiovascular research, 76(3), pp. 409-417. Oxford University Press 10.1016/j.cardiores.2007.08.006
