Marion Delous

The paper identifies TMEM107 and RFX7 as key genes regulated by U4atac that contribute to ciliary defects and brain development issues in zebrafish.

This study identifies an RTTN mutation that impairs neural rosette formation in human cortical organoids, linking it to microcephaly-like defects.

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

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

This study identifies a missense mutation in the furinb gene in zebrafish that causes hepatic cysts by disrupting ER homeostasis and mTOR signaling during liver development.