The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A. Sayer, Friedhelm Hildebrandt, Edgar A. Otto et al.|Nature Genetics|2006Cited by 573
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A. Otto, Friedhelm Hildebrandt, Bart Loeys et al.|Nature Genetics|2005Cited by 404
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response SignalingMoumita Chaki, D Doherty, Rannar Airik et al.|Cell|2012Cited by 392
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseBo Chang, Anand Swaroop, Hemant Khanna et al.|Human Molecular Genetics|2006Cited by 381
Germline selection shapes human mitochondrial DNA diversityWei Wei, Agnieszka Bierżyńska, Paul Brennan et al.|Science|2019Cited by 251