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Author

Ao-Jie Lian

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Open access Sep 2026

Cross-cohort convergence of a microglial transcriptional state balance in idiopathic autism and Dup15q syndrome

Autism spectrum disorder (ASD) encompasses diverse etiologies, creating a need for molecular measurements that retain biological meaning across cortical resources. We examined a predefined transcriptional balance within microglia-annotated nuclei and asked which expression component accounted for its disease-associ...

Ao-Jie Lian, Ying Yang, Yi-Zheng Jiang et al. · 0 citations
#protein folding Open access Aug 2026

Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family

Structural prediction and coimmunoprecipitation indicate that the compound variants may be associated with the development of MSS by weakening SIL1-BiP binding, and preliminary functional evidence that the identified variants may affect SIL1 abundance and SIL1-BiP interaction, supporting their relevance to the MSS phen...

Yi-Zheng Jiang, Ao-Jie Lian, Jia-Ling Guo · 0 citations
Jul 2026

Integrative functional genomics maps synaptic and developmental-regulatory autism risk-gene sets across human cortex

An adult synaptic ASD-associated layer and a mid-prenatal developmental-regulatory layer within predefined ASD risk-gene sets are defined and size-matched gene-level resampling indicated that the signal was not explained by gene-set size alone.

Aojie Lian, Qiong Wang, Mei He et al. · 0 citations

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