Gübler, Marie Claire

Top Publications

Top Publications Authored or Co-Authored by "Gübler, Marie Claire"

• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

  Nature Genetics, Volume 45, No. 5, Year 2013, Citations 426
• Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

  Nature Genetics, Volume 37, No. 9, Year 2005, Citations 247
• INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

  New England Journal of Medicine, Volume 365, No. 25, Year 2011, Citations 237
• A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

  Journal of the American Society of Nephrology, Volume 25, No. 11, Year 2014, Citations 90
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 89