Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
Fang Liu, Liang Chen, Zhengchang Li, Sen Zhao, Shaofang Shangguan, Haiming Yuan, Ruen Yao, Zailong Qin, Shujie Zhang, Li‐Ping Zou, Zhijie Gao, Qian Chen, Suiwen Wen, Jing Peng, Fei Yin, , Xiaoli Chen
The paper identifies MAPK3 as a driver gene in 16p11.2 deletion-associated neurodevelopmental disorders, showing haplotype-specific expression and cis-regulatory enhancer SNPs contribute to variable phenotypes.
bioRxiv · Jul 10, 2022 · PreprintGenetics