DynAPs reveal that biological phase separation provides the organizing principle for the complex process of dynein motor assembly in cells with motile cilia.

Developmental defects of the cochlea caused by dysregulation of sonic hedgehog signaling are the potential etiology for hearing loss in a group of ciliopathies with defective ciliogenesis.

High-throughput screening of over 6000 drugs using cells and retina tissue with a CEP290 ciliopathy mutation identified a small molecule, reserpine, which enhanced photoreceptor survival in retinal organoids and in a mouse disease model by partially restoring balance in proteostasis.

Interacting MKS1 and UBE2E1 regulate canonical Wnt signaling through modulation of beta-catenin levels at the base of primary cilium, providing new insights into ciliopathy disease mechanisms.

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

DynAPs are liquid-like organelles that are partitioned into functional sub-domains.

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

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.

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.

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