Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Hum Mutat 41, 2179-2194 (2020).
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93, 357-67 (2013).