Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.

doi:10.1038/s41593-026-02247-7

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Article

Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.

Nature neuroscience - 1 May 2026

Fernandez Garcia Meilin, Retallick-Townsley Kayla, Pruitt April, Davidson Elizabeth A, Balafkan Novin, Warrell Jonathan, Huang Tzu-Chieh, Kibowen Alfred, Chu Zhiyuan, Dai Yi, Fitzpatrick Sarah E, Meng Ran, Sen Annabel, Cohen Sophie, Livoti Olivia, Khan Suha, Becker Charlotte, Luiz Teles E Silva Andre, Liu Jenny, Dossou Grace, Cheung Jen, Liu Susanna, Ghorbani Sadaf, Deans P J Michael, DeCiucis Marisa, Emani Prashant, Gao Huanyao, Shen Hongying, Gerstein Mark, Wang Zuoheng, Huckins Laura M, Hoffman Ellen J, Brennand Kristen

Abstract excerpt

Diverse risk genes have been identified for neurodevelopmental disorders (NDDs), but how these genes converge on similar biological pathways in neurons, and thus give rise to similar phenotypes, is unclear. Here we apply a pooled CRISPR approach to successfully target 23 NDD loss-of-function genes with roles in chromatin biology and examine convergent effects on gene expression across human induced pluripotent...

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PMID: 42032432
DOI: 10.1038/s41593-026-02247-7
PMCID: PMC13156037

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