Francis P. Lach

The paper identifies ALDH9A1 deficiency as a source of endogenous DNA damage that requires FA pathway repair, leading to genomic instability and tumorigenesis in FA-deficient cells.

This study shows RTF2 regulates replication repriming and ribonucleotide excision at the replisome, ensuring efficient replication restart and preventing replication stress.

This study shows that inhibiting NHEJ components does not rescue DNA repair defects in FA patient cells, with only partial suppression of chromosomal abnormalities by 53BP1 knockout.

The paper correlates clinical severity in Fanconi anemia with residual function of FANCB missense variants through biochemical and cell-based assays.

This study investigates BRCA2's role in protecting DNA at interstrand crosslinks and shows its distinct function compared to its role in hydroxyurea-induced fork protection.