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Clark, David W; Okada, Yukinori; Moore, Kristjan H S; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L K; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M; ... (2019). Associations of autozygosity with a broad range of human phenotypes. Nature communications, 10(1), p. 4957. Nature Publishing Group 10.1038/s41467-019-12283-6
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
