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Author

Ying-Jie Wan

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Sep 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

S. Hiatt, Wen-Jing Zhao, Zhong-Qing Wang et al. · 0 citations
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. · 0 citations

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