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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A. Ferese R, et al. Among authors: hertog jd. Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30. Hum Mutat. 2018. PMID: 30007050
Distinct and overlapping functions of ptpn11 genes in Zebrafish development.
Bonetti M, Rodriguez-Martinez V, Paardekooper Overman J, Overvoorde J, van Eekelen M, Jopling C, Hertog Jd. Bonetti M, et al. Among authors: hertog jd. PLoS One. 2014 Apr 15;9(4):e94884. doi: 10.1371/journal.pone.0094884. eCollection 2014. PLoS One. 2014. PMID: 24736444 Free PMC article.