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Article

Developmental convergence and divergence in human stem cell models of autism.

Nature - 1 Mar 2026

Gordon Aaron, Yoon Se-Jin, Bicks Lucy K, Martín Jacqueline M, Pintacuda Greta, Arteaga Stephanie, Wamsley Brie, Guo Qiuyu, Elahi Lubayna, Dolmetsch Ricardo E, Bernstein Jonathan A, O'Hara Ruth, Hallmayer Joachim F, Lage Kasper, Pasca Sergiu P, Geschwind Daniel H

Abstract excerpt

Two decades of genetic studies in autism spectrum disorder (ASD) have identified more than 100 genes harbouring rare risk mutations1-13. Despite this substantial heterogeneity, transcriptomic and epigenetic analyses have identified convergent patterns of dysregulation across the ASD postmortem brain14,15-17. To identify shared and distinct mechanisms of ASD-linked mutations, we assembled a large...

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Identifiers

PMID: 41611887
DOI: 10.1038/s41586-025-10047-5
PMCID: PMC12999519

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