2024
DOI: 10.1101/2024.04.01.587492
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Developmental convergence and divergence in human stem cell models of autism spectrum disorder

Aaron Gordon,
Se-Jin Yoon,
Lucy K Bicks
et al.

Abstract: Two decades of genetic studies in autism spectrum disorder (ASD) have identified over a hundred genes harboring rare risk mutations. Despite this substantial heterogeneity, transcriptomic and epigenetic analyses have identified convergent patterns of dysregulation across ASD post-mortem brain tissue. To identify shared and distinct mutational mechanisms, we assembled the largest hiPS cell patient cohort to date, consisting of 70 hiPS cell lines after stringent quality control representing 8 ASD-associated muta… Show more

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