Saunier, Sophie

Top Publications

Top Publications Authored or Co-Authored by "Saunier, Sophie"

• Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

  Cell, Volume 150, No. 3, Year 2012, Citations 357
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

  New England Journal of Medicine, Volume 365, No. 25, Year 2011, Citations 237
• Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations

  American Journal of Human Genetics, Volume 90, No. 5, Year 2012, Citations 180