Author

Wei Li

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Jul 2026

Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.

A whole-genome sequencing analysis of 3109 samples across 1033 Chinese ASD families expands the ASD genetic landscape and suggest convergent pathogenic axes involving transcriptional regulation, synaptic signaling and plasticity, and neuroimmune interactions.

Senwei Tan, Yongqing Lyu, Xiaoyue Sun et al. · Molecular Psychiatry · 1 citation

Review Open access Aug 2026

Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review

A Chinese patient presenting with classic hallmarks of MGORS7 alongside atypical clinical features, including hearing and visual impairments is reported, suggesting that growth hormone therapy may be beneficial for growth retardation in patients with MGORS7.

Ying Zhao, Yiyang Fu, Shuying Zhang et al. · Frontiers in Genetics · 0 citations