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, Bernhard Schermer et al.|Nature Genetics|2003Cited by 643
X-linked Alport SyndromeJean Philippe Jaïs, Marie-Claire Gübler, Bertrand Knebelmann et al.|Journal of the American Society of Nephrology|2000Cited by 592
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failureRalf Birkenhäger, Friedhelm Hildebrandt, Edgar A. Otto et al.|Nature Genetics|2001Cited by 538
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Sophie Saunier, Lekbir Baala et al.|Nature Genetics|2007Cited by 495
X-Linked Alport SyndromeJean Philippe Jaïs, Marie-Claire Gübler, Cornelis H. Schröder et al.|Journal of the American Society of Nephrology|2003Cited by 479