Maurice S. Swanson

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

The paper identifies early- and late-switch exons in neural development and shows they are regulated by RNA-binding proteins, with some neuronal subtypes lacking these regulators and retaining an immature splicing program.

This study shows that deactivated Cas9 reduces RNA from expanded microsatellite repeats, improving disease-related outcomes in cellular models.

RNA-targeting Cas9 reverses molecular pathology in a myotonic dystrophy mouse model by eliminating toxic CUG RNA and restoring normal cellular functions.

SFMetaDB curates RNA-Seq datasets for mouse splicing factors, revealing a gap in functional studies and highlighting understudied factors.