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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A. Sayer, Friedhelm Hildebrandt, I. Kawakami 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
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response SignalingMoumita Chaki, D Doherty, Rannar Airik et al.|Cell|2012Cited by 392
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin‐Tse, Friedhelm Hildebrandt, Jan Halbritter et al.|The American Journal of Human Genetics|2013Cited by 201