A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred PopulationsFriedhelm Hildebrandt, Edgar A. Otto, Gil Chernin et al.|PLoS Genetics|2009Cited by 164
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
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F. O’Toole, Holger Prokisch, Yangjian Liu et al.|Journal of Clinical Investigation|2010Cited by 119
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencingEdgar A. Otto, Friedhelm Hildebrandt, Juliana Helou et al.|Human Mutation|2007Cited by 82