Rebekah van Bruggen

This study shows that CIC deletion causes abnormal mossy fiber targeting in the mouse hippocampus after the second postnatal week, due to loss of a mature granule neuron subtype and dysregulation of axon guidance genes.

This study investigates how MATR3 variants affect cryptic splicing repression, showing that some variants reduce protein solubility and impair RNA binding and splicing regulation.

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.