Clinical and genetic characteristics of Japanese nephronophthisis patients

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 642 citations · Full text

Medicine, Genetics, Molecular Genetics +14

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

Friedhelm Hildebrandt, Edgar A. Otto, Hans Gerd Nothwang et al. · Nature Genetics · 1997 · 352 citations

Life Sciences, Genetics, Nephrology +6

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Géraldine Mollet, Rémi Salomon, Olivier Gribouval et al. · Nature Genetics · 2002 · 216 citations

Medicine, Genetics, Molecular Genetics +6

Evidence of Oligogenic Inheritance in Nephronophthisis

Julia Hoefele, Matthias T. F. Wolf, John F. O’Toole et al. · Journal of the American Society of Nephrology · 2007 · 146 citations

Medicine, Genetics, Molecular Genetics +11