Guichet, Agnès

Top Publications

Top Publications Authored or Co-Authored by "Guichet, Agnès"

• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

  Human Reproduction, Volume 27, No. 11, Year 2012, Citations 49
• Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

  Molecular Biology Reports, Volume 47, No. 5, Year 2020, Citations 16
• Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

  Molecular Neurodegeneration, Volume 16, No. 1, Article 12, Year 2021, Citations 13
• 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