Patrick Niaudet

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

Glomerulonephritis, Urology, Renal Function +9

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Sandrine Barbaux, Patrick Niaudet, Marie-Claire Gübler et al. · Nature Genetics · 1997 · 742 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Genetics and Outcome of Atypical Hemolytic Uremic Syndrome

Véronique Frémeaux‐Bacchi, Fádi Fakhouri, Arnaud Garnier et al. · Clinical Journal of the American Society of Nephrology · 2013 · 698 citations

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

Aude Servais, Laure‐Hélène Noël, Lubka T. Roumenina et al. · Kidney International · 2012 · 555 citations

Glomerular Disease, Vasculitis, Immunology +18

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 · 489 citations

Cerebello-oculo-renal Syndrome, Ciliary Gene Rpgrip1l, Developmental Biology +9