Nürnberg, Gudrun

Top Publications

Top Publications Authored or Co-Authored by "Nürnberg, Gudrun"

• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

  Nature Genetics, Volume 45, No. 5, Year 2013, Citations 426
• Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

  Cell, Volume 150, No. 3, Year 2012, Citations 357
• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Nature Genetics, Volume 43, No. 1, Year 2011, Citations 233
• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

  Journal of Clinical Investigation, Volume 121, No. 7, Year 2011, Citations 189