Laquérrière, Annie

Top Publications

Top Publications Authored or Co-Authored by "Laquérrière, Annie"

• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• High-throughput sequencing of a 4.1Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

  Human Mutation, Volume 31, No. 10, Year 2010, Citations 32
• Pyridoxine-dependent epilepsy: report on three families with neuropathology

  Metabolic Brain Disease, Volume 31, No. 6, Year 2016, Citations 23
• Clinical and molecular characterization of patients with mucopolysaccharidosis type I in an Algerian series

  International Journal of Molecular Sciences, Volume 17, No. 5, Article 743, Year 2016, Citations 9
• Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

  American Journal of Medical Genetics, Part A, Volume 182, No. 3, Year 2020, Citations 8