Rainer Ruf

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

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Rainer Ruf, Pin‐Xian Xu, Derek Silvius et al. · Proceedings of the National Academy of Sciences · 2004 · 419 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

Rainer Ruf, Anne Lichtenberger, Stephanie M. Karle et al. · Journal of the American Society of Nephrology · 2004 · 415 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome

Martin Konrad, Martin Vollmer, Henny H. Lemmink et al. · Journal of the American Society of Nephrology · 2000 · 292 citations

Medicine, Genetics, Molecular Genetics +17

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Edgar A. Otto, Julia Hoefele, Rainer Ruf et al. · The American Journal of Human Genetics · 2002 · 210 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5