Bonneau, Dominique

Top Publications

Top Publications Authored or Co-Authored by "Bonneau, Dominique"

• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

  Human Genetics, Volume 127, No. 5, Year 2010, Citations 123
• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

  Brain, Volume 140, No. 10, Year 2017, Citations 92
• Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 163, No. 2, Year 2013, Citations 76