Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Friedhelm Hildebrandt, Gudrun Nürnberg et al.|Nature Genetics|2006Cited by 565
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disordersK Hasselbacher, Friedhelm Hildebrandt, Roger C. Wiggins et al.|Kidney International|2006Cited by 215
Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal SyndromeBethan E. Hoskins, Friedhelm Hildebrandt, Carl H. Cramer et al.|The American Journal of Human Genetics|2007Cited by 203
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred PopulationsFriedhelm Hildebrandt, Edgar A. Otto, Saskia F. Heeringa et al.|PLoS Genetics|2009Cited by 164
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)Rasheed Gbadegesin, Friedhelm Hildebrandt, Bernward Hinkes et al.|Nephrology Dialysis Transplantation|2007Cited by 155