Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationEdgar A. Otto, Friedhelm Hildebrandt, Daniel Landau et al.|Nature Genetics|2003Cited by 643
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
Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter SyndromeMartin Konrad, Friedhelm Hildebrandt, Martin Vollmer et al.|Journal of the American Society of Nephrology|2000Cited by 292
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in EvolutionEdgar A. Otto, Friedhelm Hildebrandt, Julia Hoefele et al.|The American Journal of Human Genetics|2002Cited by 210