Gudrun Nürnberg

Gudrun Nürnberg publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Gudrun Nürnberg sits on this spectrum.

Gudrun Nürnberg D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Gudrun Nürnberg sits on this spectrum.

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