Author

F. Satterstrom

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#protein folding Open access Oct 2026

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

Bipolar disorder (BD) is highly heritable, yet the contribution of rare coding variation remains incompletely characterized. We analyzed sequencing data from 64,435 individuals with BD and 168,101 controls spanning multiple ancestries and 22 countries, representing the largest and most global sequencing resource with a...

C. Liao, R. Ye, J. Sealock et al. · medRxiv · 0 citations

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

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. · medRxiv · 0 citations

Open access Aug 2026

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

This study finds that rare variants across hundreds of genes contribute to autism with variable phenotypic outcomes, and clusters them based on association evidence from large-scale studies of developmental disorders, schizophrenia, bipolar disorder, and epilepsy.

F. Satterstrom, C. Auwerx, J.-M. Fu et al. · medRxiv · 1 citation