Frank M. J. Jacobs

The paper identifies molecular subtypes of neurons in the frontoinsular cortex and links specific gene expression patterns to neuronal vulnerability in FTD.

The paper identifies fusion transcripts in human brain tissues, showing they are enriched in segmental duplication hotspots and contribute to inter-individual expression differences.

The paper identifies TET3 downregulation in unmethylated FMR1 full mutation carriers and suggests it may contribute to the lack of methylation in FXS.

This study shows that ZNF91 represses the XDP-SVA insertion and mitigates the molecular phenotype of XDP, with age-related ZNF91 expression decline contributing to disease progression.

The paper identifies human-specific NOTCH2NL genes linked to neurodevelopmental disorders and shows they affect cortical neurogenesis through Notch signaling.