Yuji Nakamura

ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsive

The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

A phenotypic brain organoid atlas for neurodevelopmental disorders

The paper presents a brain organoid atlas of 352 patient-derived iPSCs from neurodevelopmental disorders, showing disease-specific cellular defects in organoids.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.