Audollent, Sophie

Top Publications

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

• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  American Journal of Human Genetics, Volume 83, No. 2, Year 2008, Citations 360
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 89
• Expanding CEP290 mutational spectrumin ciliopathies

  American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009, Citations 42
• BBS10 mutations are common in 'Meckel'-type cystic kidneys

  Journal of Medical Genetics, Volume 47, No. 12, Year 2010, Citations 28