Sebiha Cevik

The paper functionally characterizes human genetic variants by creating and analyzing matching variants in C. elegans using CRISPR/Cas9.

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

CiliaMiner is a manually curated database of ciliopathy genes and disorders, classifying 55 diseases into primary, secondary, and atypical ciliopathies with clinical features and orthologs across species.

ConVarT matches human genetic variants with equivalent variants in mice and C. elegans to provide functional insights for human mutations.

This study identifies WDR31 as a ciliary protein that functions redundantly with ELMOD and RP2 to regulate IFT trains via BBSome, affecting cilia morphology and IFT dynamics.