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J. Buxbaum

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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. · 0 citations
Open access Sep 2026

Directing GABAergic neuronal identity from human iPSCs through developmental patterning.

It is shown that the chromatin state of the starting population constrains the neuronal identities specified by ASCL1 and DLX2, and it is demonstrated that the recurrent p.Tyr719∗ mutation disrupts interneuron maturation and subtype-associated transcriptional programs and impairs inhibitory synaptic transmission in hum...

Rui-Qi Hu, Linda L. Boshans, Yi-Ran Tao et al. · 0 citations
Open access Aug 2026

Long-Term Risk of Rheumatoid Arthritis in Individuals With Autism Spectrum Disorder: A Population-Based Matched Cohort Study.

This large-scale population study does not observe evidence that ASD is associated with elevated RA risk during adulthood, and these findings inform understanding of autoimmune comorbidity patterns in autism and may guide evidence-based clinical monitoring for autistic adults.

Evora Hailin Zhu, Stephen Z. Levine, M. Morin et al. · 0 citations
Open access Aug 2026

Preserved social development but impaired executive function in a Shank3-deficient rat model of Phelan-McDermid syndrome

Rats with complete or partial Shank3 deficiency produce a selective behavioral profile in which high-order cognitive dysfunction is more pronounced than deficits in basic sensorimotor or select social behaviors, and these findings highlight executive dysfunction as a key consequence of the loss of Shank3.

Anna C. Pearson, T. Drazan, Sean P. Bradley et al. · 0 citations
Open access Aug 2026

Estimating the contribution of coding mutations to autism

It is found that damaging de novo single-nucleotide variants and frameshift indels explain 3.4% (95% CI: 2.1% - 4.7%) of autism variance on the observed scale.

A. Nadig, J. Fu, F. Satterstrom et al. · 0 citations
Open access Jul 2026

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios, and underscores that navigating the complexities of large NDD cohorts requires a detailed, expert-driven approach to enhance diagnostic yield.

Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova et al. · 0 citations

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