Maureen V. Akinyi

This study identifies QKI as a regulator of splicing fidelity during cardiogenesis by interacting with U6 snRNA to enhance splicing at weak 5' splice sites.

The paper uses chimeric eCLIP to map snoRNA-target RNA interactions, identifying novel interactions and regulatory roles in RNA biogenesis.

The paper identifies biallelic mutations in CENATAC as a cause of constitutional aneuploidy by disrupting minor intron splicing and causing chromosome segregation errors.