Author

L. de la Torre-Ubieta

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Open access Sep 2026

Autism genes converge on three functional programs organized by neuronal subclass, developmental timing, and cortical patterning

Together, these findings anchor ASD genetic vulnerability to specific neurodevelopmental lineages, epochs, and molecular substrates, and delineate the features that distinguish ASD from comorbidities with broader developmental impacts.

Rachel L. Smith, Yun-Dan Liao, L. Klei et al. · bioRxiv · 0 citations

Open access Aug 2026

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

Using patient-derived iPSCs and multi-omics profiling, it is demonstrated that early-truncating variants cause loss-of-function via nonsense-mediated decay (NMD), while late-truncating variants that escape NMD cause gain-of-function effects.

Aileen A. Nava, Yunier Pérez-Rodríguez, T.-C. Hsieh et al. · medRxiv · 0 citations