Matthias T. F. Wolf

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

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Heike Olbrich, Manfred Fliegauf, Julia Hoefele et al. · Nature Genetics · 2003 · 367 citations

Life Sciences, Genetics, Molecular Genetics +7

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Kai‐Uwe Eckardt, Seth L. Alper, Corinne Antignac et al. · Kidney International · 2015 · 362 citations

Medicine, Internal Medicine, Nephrology +13

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15