Gudrun Nürnberg

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

Life Sciences, Genetics, Molecular Biology +6

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 564 citations

Medicine, Genetics, Molecular Genetics +14

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Mathieu Lemaire, Véronique Frémeaux‐Bacchi, Franz Schaefer et al. · Nature Genetics · 2013 · 478 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

Udo zur Stadt, Jan Rohr, Wenke Seifert et al. · The American Journal of Human Genetics · 2009 · 415 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 400 citations · Full text

Medicine, Genetics, Molecular Genetics +17