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Author

A. Prentice

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Open access Sep 2026

Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.

It is demonstrated that a scalable, quantitative assay capturing STXBP1 stability and syntaxin-binding behavior can differentiate benign from pathogenic variants and provide functional insights into mechanisms of pathogenicity.

Elisa A. Waxman, Jennine M. Dawicki-McKenna, I. McSalley et al. · 0 citations
Open access 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

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