Gudrun Nürnberg

Overview

Best Publications

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

  John A. Sayer;John A. Sayer;Edgar A. Otto;John F. O'Toole;Gudrun Nurnberg

  764
  Citations

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

  Bernward Hinkes;Roger C. Wiggins;Rasheed Gbadegesin;Christopher N. Vlangos

  647
  Citations

• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

  Mathieu Lemaire;Véronique Frémeaux-Bacchi;Franz Schaefer;Murim Choi

  528
  Citations

• 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;Wenke Seifert;Florian Koch

  483
  Citations

• Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

  Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  456
  Citations

• COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

  Saskia F. Heeringa;Gil Chernin;Moumita Chaki;Weibin Zhou

  442
  Citations

• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

  Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  431
  Citations

• Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

  Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  391
  Citations

• Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

  Carsten Bergmann;Manfred Fliegauf;Nadina Ortiz Brüchle;Valeska Frank

  379
  Citations

• Loss of Ca v 1.3 ( CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness

  Shahid M Baig;Alexandra Koschak;Andreas Lieb;Mathias Gebhart

  352
  Citations

• Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia Without Randomization of Left-Right Body Asymmetry

  Heike Olbrich;Miriam Schmidts;Claudius Werner;Alexandros Onoufriadis

  334
  Citations

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  276
  Citations

• Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

  Gerald Stöber;Kathrin Saar;Franz Rüschendorf;Jobst Meyer

  275
  Citations

• tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

  Birgit S. Budde;Yasmin Namavar;Peter G. Barth;Bwee Tien Poll-The

  265
  Citations

• Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

  Massimo Attanasio;N. Henriette Uhlenhaut;Vitor H. Sousa;John F. O'Toole

  263
  Citations

• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Ersan Kalay;Gökhan Yigit;Yakup Aslan;Karen E Brown

  263
  Citations

• PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

  Inga Ebermann;Jennifer B. Phillips;Max C. Liebau;Robert K. Koenekoop

  261
  Citations

• Mutations in **FAM134B**, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

  Ingo Kurth;Torsten Pamminger;J Christopher Hennings;Désirée Soehendra

  258
  Citations

• Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

  Vinzenz Oji;Katja-Martina Eckl;Karin Aufenvenne;Marc Nätebus

  247
  Citations

• Mutations in different components of FGF signaling in LADD syndrome

  E. Rohmann;H.G. Brunner;H. Kayserili;O. Uyguner

  244
  Citations