Publications

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR.Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3.PMID: 37924809

SCGN deficiency results in colitis susceptibility. (2019) Sifuentes-Dominguez LF, Li H, Llano E, Liu Z, Singla A, Patel AS, Kathania M, Khoury A, Norris N, Rios JJ, Starokadomskyy P, Park JY, Gopal P, Liu Q, Tan S, Chan L, Ross T, Harrison S, Venuprasad K, Baker L, Jia D, Burstein E. Elife 8:e49910. PMCID: PCM6839920.