Alexandre Benmerah

This study generates two mouse models of nephronophthisis by inactivating Nphp3 at different developmental stages, revealing distinct disease mechanisms and treatment responses.

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

This study evaluates prostaglandin receptor agonists and eupatilin for their ability to rescue ciliogenesis defects and reduce cyst size in nephronophthisis models.

The paper identifies ANKS3/BICC1 as a post-transcriptional regulator of NPHP1 transcripts, linking it to ciliopathy phenotypes through transcript decay and ciliary dysfunction.