Mutations in KIAA0586 (TALPID3) cause a severe ciliopathy called Joubert syndrome that affects organ, cell and centrosome polarity.

A supervised learning approach on a high-content genome-wide siRNA screen has identified 591 likely candidates for ciliopathies and facilitated in the discovery of KIAA0586 mutations in individuals with Joubert syndrome.

Cells have evolved a mechanism that actively regulates centriole maturation during quiescence.

The ciliary G-protein Arl13B – which is often mutated in Joubert syndrome – is the Guanine nucleotide exchange factor for the G-protein Arl3 and exclusively localizes to cilia.

Four conserved ciliary localization signals in the Joubert syndrome-associated INPP5E phosphoinositide phosphatase control its ciliary accumulation.

Primary cilia of neural crest-derived cells mediate Indian hedgehog-induced signal transduction in the periocular mesenchyme and are required for normal anterior segment development.

Genetic analysis identifies the origins of midface defects in mouse models of ciliopathies, revealing a role for ciliary Hedgehog signaling in cell survival.

Centriole rotational asymmetry, a structural property necessary for cytoskeletal organization in unicellular eukaryotes, is broadly conserved in the centrioles of human cells.

Genetic knock-outs of the dynein-2 intermediate chains reveals that both are essential for correct cilia function and transition zone organization, but play different functions in the assembly of dynein-2 motor and in primary cilia formation.

Genetic studies in mice reveal the molecular and embryological mechanisms of vocal fold development and function, thereby informing our understanding of vocal communication and congenital voice defects.