Author

Zhengmao Hu

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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

Open access Jul 2026

X-linked SYTL4 missense variant disrupts RAB27A-dependent vesicle trafficking and synaptic transmission in autism.

The findings implicate disrupted SYTL4-RAB27A-dependent vesicle trafficking in ASD pathogenesis and identify SYTL4 and RAB27A as previously unrecognized contributors to autism-associated synaptic deficits and behavior.

Yang Liao, Shuju Zhang, Xiaolei Zhang et al. · Proceedings of the National... · 0 citations