Publications
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 48, 648-56 (2016).
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet 25, 3998-4011 (2016).
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med 12, e11739 (2020).