The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A. Sayer, Friedhelm Hildebrandt, Iain A. Drummond et al.|Nature Genetics|2006Cited by 573
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexesRainer Ruf, Friedhelm Hildebrandt, Pin‐Xian Xu et al.|Proceedings of the National Academy of Sciences|2004Cited by 420
Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic SyndromeRainer Ruf, Friedhelm Hildebrandt, Anne Lichtenberger et al.|Journal of the American Society of Nephrology|2004Cited by 415
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumNicholas Katsanis, Erica E. Davis, Qi Zhang et al.|Nature Genetics|2011Cited by 381
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Sylvia Hoff, Soeren S. Lienkamp, Jan Halbritter et al.|Nature Genetics|2013Cited by 201