Nicholas F. Page

The paper characterizes regulatory variants in human neurons using lentiMPRA and shows that variant effects are influenced by regulatory element activity and sequence context, not population frequency.

The paper shows that Scn2a loss-of-function in mice causes degraded sensory coding in the cortex, which is rescued by CRISPRa gene activation.

The paper identifies active human neural enhancers and CRISPRa gRNAs that upregulate NDD risk genes, providing a resource for cis-regulatory therapy development.

The paper describes a CRISPRa screening method combining multiplex perturbations with sc-RNA-seq to identify cell-type-specific regulatory elements and their target genes.

The paper combines massively parallel reporter assays and mouse transgenic assays to study the functional impact of non-coding variants on neuronal enhancer activity, finding strong correlations and additional pleiotropic effects.

AlphaMissense shows strong correlation with functional assays of missense variants but has modest improvement over other predictors.

The paper identifies shared regulatory targets of autism-associated transcriptional regulators in brain-expressed genes and shows their functional convergence in neurodevelopmental outcomes.

This study identifies transcriptomic changes in non-human primate brains exposed to maternal immune activation, revealing alterations in retrotransposition, synaptic connectivity, and myelination.