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Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Jiang Q, et al. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014. Am J Hum Genet. 2015. PMID: 25839327 Free PMC article.
RET somatic mutations are underrecognized in Hirschsprung disease.
Jiang Q, Liu F, Miao C, Li Q, Zhang Z, Xiao P, Su L, Yu K, Chen X, Zhang F, Chakravarti A, Li L. Jiang Q, et al. Genet Med. 2018 Jul;20(7):770-777. doi: 10.1038/gim.2017.178. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261189 Free PMC article.
Response to Brosens et al.
Jiang Q, Chen X, Zhang F, Chakravarti A, Li L. Jiang Q, et al. Genet Med. 2018 Nov;20(11):1479-1480. doi: 10.1038/gim.2018.7. Genet Med. 2018. PMID: 29493585 Free article. No abstract available.
9,498 results