A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic SyndromeCarolin E. Sadowski, Friedhelm Hildebrandt, Svjetlana Lovric et al.|Journal of the American Society of Nephrology|2014Cited by 660
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Friedhelm Hildebrandt, Massimo Attanasio et al.|Nature Genetics|2006Cited by 565
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F. Heeringa, Friedhelm Hildebrandt, Peter Mündel et al.|Journal of Clinical Investigation|2011Cited by 402
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Friedhelm Hildebrandt, Heon Yung Gee et al.|Journal of Clinical Investigation|2013Cited by 341
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signalingHeon Yung Gee, Friedhelm Hildebrandt, Pawaree Saisawat et al.|Journal of Clinical Investigation|2013Cited by 237