Frank Beekmann

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 · 641 citations · Full text

Pathogenesis, Immunology, Iga Glomerulonephritis +6

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Ralf Birkenhäger, Edgar A. Otto, Maria J. Schürmann et al. · Nature Genetics · 2001 · 529 citations

Urology, Mendelian Disorder, Genetic Disorder +6

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 · 417 citations · Full text

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis

Rainer Ruf, Rezan Topaloğlu, Lisa M. Guay‐Woodford et al. · Pediatric Nephrology · 2002 · 55 citations

Urology, Molecular Physiology, Renal Function +9

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31

Martin Vollmer, Nikola Jeck, Henny H. Lemmink et al. · Nephrology Dialysis Transplantation · 2000 · 26 citations · Full text