Global analyses using aneuploid Drosophila revealed the dynamic roles of RNA m⁶A modification in regulating gene expression and development under genomic imbalance, highlighting its potential relationships with dosage-related effects.

Mice with Suppressor of Fused mutations have aberrant cerebellar granule cell proliferation accompanied by ectopic expression of an FGF ligand, also expressed in infantile medulloblastoma patients.

PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.