Britt‐Marie Anderlid

This study shows that HNRNPU deficiency causes chromatin remodeling, transcriptional changes, and delayed neurogenesis in hindbrain-derived neural progenitors.

This study investigates the effects of CASK mutations in human neurons derived from iPSCs, showing reduced CASK protein and altered presynaptic development, with implications for excitatory-inhibitory balance.

The paper analyzes copy number variations in 100 twin pairs enriched for neurodevelopmental disorders, finding no postzygotic de novo CNVs but higher rates of CNVs overlapping nervous system genes in discordant pairs.