The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A. Sayer, Friedhelm Hildebrandt, Blake V. Fausett 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
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F. Heeringa, Friedhelm Hildebrandt, Peter Mündel et al.|Journal of Clinical Investigation|2011Cited by 402
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F. O’Toole, Holger Prokisch, Yangjian Liu et al.|Journal of Clinical Investigation|2010Cited by 119