Perrault, Isabelle

Top Publications

Top Publications Authored or Co-Authored by "Perrault, Isabelle"

• Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations

  American Journal of Human Genetics, Volume 90, No. 5, Year 2012, Citations 180
• Expanding CEP290 mutational spectrumin ciliopathies

  American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009, Citations 42
• Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

  PLoS ONE, Volume 8, No. 1, Article e51622, Year 2013, Citations 35
• IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

  Journal of Medical Genetics, Volume 52, No. 10, Year 2015, Citations 30
• Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy

  Cilia, No. SUPPLEMENT 1, Article P7, Year 2015, Citations 21