Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease

Por Jiang, Qian, Ho, Yen-Yi, Hao, Li, Nichols Berrios, Courtney, Chakravarti, Aravinda
Publicado em 2011

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

Por Kapoor, Ashish, Jiang, Qian, Chatterjee, Sumantra, Chakraborty, Prakash, Sosa, Maria X., Berrios, Courtney, Chakravarti, Aravinda
Publicado no Hum Mol Genet (2015)

Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease

Por Chatterjee, Sumantra, Kapoor, Ashish, Akiyama, Jennifer A., Auer, Dallas R., Lee, Dongwon, Gabriel, Stacey, Berrios, Courtney, Pennacchio, Len A., Chakravarti, Aravinda
Publicado no Cell (2016)

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Por Gui, Hongsheng, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W., Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C., Shepherd, Iain T., So, Man-Ting, Sribudiani, Yunia, Tang, Clara S. M., van den Hout, Mirjam C. G. N., van der Linde, Herma C., van Ham, Tjakko J., van IJcken, Wilfred F. J., Verheij, Joke B. G. M., Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè, Hofstra, Robert M. W.
Publicado no Genome Biol (2017)