Rob M.F. Wolthuis

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

The paper identifies the SKA complex as a mitotic vulnerability in chromosomally unstable cancers, showing its selective impact on these cells through prolonged mitosis.

The paper develops an isogenic cell line model to study the effects of the DNASE1L3 p.Arg206Cys variant on cell-free DNA fragmentation and shows how wildtype DNASE1L3 can enrich for mononucleosomal fragments.

This study identifies STK19 as a factor facilitating the transition from initial TCR complex assembly to downstream repair steps by enabling RNAPII clearance.

The paper identifies PAXIP1-PAGR1 as a novel cohesin regulator through CRISPR screens in cohesion defective cells, showing its role in chromatin association of cohesin independent of DNA replication.

ShrinkCRISPR analyzes CRISPR-Cas9 screen data to detect differential gene fitness effects while accounting for variation across cell populations and replicates.

This study evaluates four commercial anti-FLCN antibodies for immunohistochemistry in BHD-associated kidney tumors but finds none are reliably effective for routine diagnostic use.

This study identifies ELOF1 as a factor that directs CRL4CSA to ubiquitylate RNAPII at K1268, facilitating TCR and protecting CSB-deficient cells from transcription-replication collisions.