Nan Pang, Kuokuo Li, Senwei Tan, Meilin Chen, Fang He, Chen Chen, Lifen Yang, Ciliu Zhang, Xiaolu Deng, Li Yang, Leilei Mao, Guoli Wang, Haolin Duan, Xiaole Wang, Wen Zhang, Hui Guo, Jing Peng, Fei Yin, Kun Xia
With the continuous deepening of genetic research on neurodevelopmental disorders (NDDs), more patients have been identified the causal or candidate genes. However, it is still urgent needed to increase the sample size to confirm the associations between variants and clinical manifestations. We previously performed molecular inversion probe sequencing of autism spectrum disorder (ASD) candidate genes in 1,543 ASD patients. In this study, we used the same method to detect de novo variants (DNVs) in 665 NDD patients with intellectual disability (ID) and/or epilepsy (EP) for genetic analysis and diagnosis...
December 9, 2023: Gene