Nine V.A.M. Knoers

This study shows that loss of nephrocystin-1 in kidney organoids impairs DNA repair, increases senescence, and leads to fibrosis, revealing a new role for NPHP1 in DNA damage response.

This study uses Cas9-directed long-read sequencing to validate and refine optical genome mapping findings in leukemia diagnostics, improving breakpoint resolution and clinical relevance assessment.

KidneyNetwork predicts kidney-specific gene functions and disease phenotypes using co-expression networks, identifying ALG6 as a candidate gene for kidney and liver cysts in undiagnosed patients.

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.