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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A. Sayer, Friedhelm Hildebrandt, Joachim Gloy et al.|Nature Genetics|2006Cited by 573
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Friedhelm Hildebrandt, Roger C. Wiggins et al.|Nature Genetics|2006Cited by 565
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetryHeike Olbrich, Heymut Omran, Karsten Häffner et al.|Nature Genetics|2002Cited by 557
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