Rosalie A. Kampen

The paper identifies a DNA damage- and phospho-dependent interaction between BRCA1 exon 11 and TOPBP1, showing its role in end-resection during homologous recombination.

This study compares synthetic lethal interactions in hypomorphic BRCA1 missense mutations to BRCA1-depleted cells, revealing distinct vulnerabilities for BRCA1R1699Q mutations.

This study shows that S6K1 and S6K2 regulate BRCA1 stability and HR repair, with their double knockout increasing DNA damage sensitivity and genomic instability.

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.