Thomas, Sophie

Top Publications

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

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• TCTN3 mutations cause Mohr-Majewski syndrome

  American Journal of Human Genetics, Volume 91, No. 2, Year 2012, Citations 137
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

  Science, Volume 335, No. 6071, Year 2012, Citations 90
• 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