Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development.

Kapoor A, Auer DR, Lee D, Chatterjee S, Chakravarti A: Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development. Hum Mol Genet 2017 Mar 7. doi: 10.1093/hmg/ddx084. [Epub ahead of print] PMID: 28334784.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang C S-m, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM: Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Hum Mol Genet pii: ddw333, 2016. PMID 27702942.

Enhancer variants synergistically drive dysregulation of the RET gene regulatory network in Hirschsprung disease.

Chatterjee S, Kapoor A, Akiyama JA, Auer DR, Lee D, Gabriel S, Berrios C, Pennacchio LA, Chakravarti A: Enhancer variants synergistically drive dysregulation of the RET gene regulatory network in Hirschsprung disease. Cell 167:355-368, 2016. PMID 27693352. PMC5113733.

Functional loss of Semaphorin 3C/ Semaphorin 3D and 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: Functional loss of Semaphorin 3C/ Semaphorin 3D and epistatic interaction with RET are critical to Hirschsprung disease liability. Am J Hum Genet 96:581-596, 2015. PMID 25839327. PMC4385176.

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

Kapoor A, Jiang Q, Chatterjee S, Chakraborty P, Sosa MX, Berrios C, Chakravarti A: Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. Hum Mol Genet 24:2997-3003, 2015. PMID 25666438. PMC4406299.

Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.

Gunadi, Kapoor A, Ling AY, Rochadi, Makhmudi A, Herini ES, Sosa MX, Chatterjee S, Chakravarti A: Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. J Pediatric Surg 49:1614-1618, 2014. PMID 25475805. PMC4258000.

Pathways systematically associated to Hirschsprung’s disease.

Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S: Pathways systematically associated to Hirschsprung’s disease. Orphanet J Rare Dis 8:187, 2013. PMID 24289864. PMC3879038.

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S: Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. PLoS One May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519, 2013. PMID 23671607. PMC3646051.

Males and females differential reproductive rate could explain parental asymmetry of mutation origin in Hirschsprung disease.

Jannot A-S, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S: Males and females differential reproductive rate could explain parental asymmetry of mutation origin in Hirschsprung disease. Eur J Hum Genet 20:917-920, 2012. PMID 22395866. PMC3421120.