Audric Cologne

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

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.

The paper compares nanopore RNA-Seq and cDNA-Seq for transcriptome profiling in mouse brain and liver, finding that nanopore RNA-Seq is more efficient but cDNA-Seq introduces bias due to read truncation.