Tojo Nakayama

CrosSplice identifies rare splice-site creating variants using cross-tissue transcriptome data, discovering clinically relevant variants missed by conventional methods.

This study investigates RFX3's role in human neurons, showing that monoallelic loss disrupts synaptic gene expression and activity-dependent responses by impairing CREB binding.

The paper demonstrates that ASO therapy targeting KCNT1 reduces seizures in a severe childhood epilepsy condition by normalizing neuronal function in prenatally enriched neurons.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.