Alicia Ljungdahl

The paper uses STARMAPS to analyze single-cell RNA sequencing data and identifies spatial and temporal patterns of ASD-associated gene enrichment in specific brain regions.

This study identifies uORF elements regulating BDNF translation and demonstrates that disrupting uORFs can upregulate BDNF expression in cell culture.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

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

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.