Frank Beekmann

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

H. Omran, R. Sudbrak, D. Milford, 2001, Nature Genetics.

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

T. Strachan, B. Schermer, T. Benzing, 2003, Nature Genetics.

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

C. Petit, D. Weil, C. Stratakis, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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

J. Weber, G. Rizzoni, C. Antignac, 2003, Pediatric Nephrology.

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

C. Antignac, F. Hildebrandt, L. Guay-Woodford, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.