Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type IIIDavid B. Simon, Richard P. Lifton, Juan Rodríguez‐Soriano et al.|Nature Genetics|1997Cited by 869
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
Hypomorphic mutations in meckelin (<i>MKS3/TMEM67</i>) cause nephronophthisis with liver fibrosis (NPHP11)Edgar A. Otto, Friedhelm Hildebrandt, Kálmán Tory et al.|Journal of Medical Genetics|2009Cited by 129
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Friedhelm Hildebrandt, Edgar A. Otto et al.|Kidney International|2013Cited by 75
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndromeJia Rao, Friedhelm Hildebrandt, Shazia Ashraf et al.|Journal of Clinical Investigation|2017Cited by 55