This framework maps perturbation-driven cell-state evolution as continuous trajectories and represents unseen perturbations using prior-knowledge embeddings and improves distributional fidelity and predicts responses to held-out perturbation combinations.
Hee-Sun Choi, Gaeun Byeon, Hayoon Park et al.· bioRxiv· 0 citations
Genotype-dependent neurodevelopmental phenotypes associated with reduced USP15 dosage are characterized and a human neural framework for investigating ASD-relevant developmental mechanisms in the context of a rare ubiquitin-pathway variant is provided.
Tae-Hwan Park, I. Koh, S. Sung et al.· 0 citations
This framework integrates predicted perturbation effects with genomic evidence to support autism candidate prioritization and identifies a telencephalic neuron-specific model best preserving autism-relevant perturbation structure.
I. Koh, E. Chang, Youngseok Choi et al.· bioRxiv· 0 citations
De novo variants in the ubiquitin-proteasome pathway are linked to autism spectrum disorder (ASD), yet their functional impact on neurodevelopment remains poorly understood. We investigated USP15, a deubiquitinating enzyme with rare damaging variants identified in individuals with ASD, using isogenic human iPSC-derived...
Tae-Hwan Park, I. Koh, Seoyoung Sung et al.· Molecules and Cells· 0 citations
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