AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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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.
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.
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...
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