Corinne Antignac

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Nicolas Boute, Olivier Gribouval, Séverine Roselli et al. · Nature Genetics · 2000 · 1.4K citations

Medicine, Genetics, Nephrology +13

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 642 citations

Medicine, Genetics, Molecular Genetics +4

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

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 595 citations

Life Sciences, Genetics, Molecular Genetics +16

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 · 538 citations

Medicine, Nephrology, Neurology +9