Oliver E. Blacque

This study shows that C. elegans septins regulate specific sensory neuronal cilia through cell-non-autonomous mechanisms in supporting glia, not via the ciliary transition zone.

CilioGenics integrates multiple methodologies to predict novel ciliary genes, identifying 256 new candidates with 31 experimentally validated.

This study uses C. elegans to interpret the pathogenicity of ciliopathy-associated missense VUS by testing their functional impact on sensory cilia.

This study uses C. elegans to analyze pathogenic missense variants in B9D2/mksr-2 associated with Joubert Syndrome, showing their impact on ciliary structure and function.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.