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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and PathwaysLiyun Sang, Peter K. Jackson, Julie J. Miller et al.|Cell|2011Cited by 623
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A. Sayer, Friedhelm Hildebrandt, Edgar A. Otto 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
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A. Otto, Friedhelm Hildebrandt, Bart Loeys et al.|Nature Genetics|2005Cited by 404