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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. Among authors: chakravarti a. 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.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Among authors: chakravarti a. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.
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. Among authors: chakravarti a. 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.
Response to Brosens et al.
Jiang Q, Chen X, Zhang F, Chakravarti A, Li L. Jiang Q, et al. Among authors: chakravarti a. Genet Med. 2018 Nov;20(11):1479-1480. doi: 10.1038/gim.2018.7. Genet Med. 2018. PMID: 29493585 Free article. No abstract available.
Exploring biologically relevant pathways in frailty.
Ho YY, Matteini AM, Beamer B, Fried L, Xue QL, Arking DE, Chakravarti A, Fallin MD, Walston J. Ho YY, et al. Among authors: chakravarti a. J Gerontol A Biol Sci Med Sci. 2011 Sep;66(9):975-9. doi: 10.1093/gerona/glr061. Epub 2011 Jul 9. J Gerontol A Biol Sci Med Sci. 2011. PMID: 21743092 Free PMC article.
929 results