Cantagrel, Vincent

Top Publications

Top Publications Authored or Co-Authored by "Cantagrel, Vincent"

• 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
• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Cell, Volume 142, No. 2, Year 2010, Citations 256
• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

  Nature Genetics, Volume 47, No. 5, Year 2015, Citations 113
• Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 111
• Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

  American Journal of Human Genetics, Volume 92, No. 3, Year 2013, Citations 95