Moutton, Sébastien

Top Publications

Top Publications Authored or Co-Authored by "Moutton, Sébastien"

• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

  Brain, Volume 146, No. 8, Year 2023, Citations 100
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• Neuroimaging findings in Mowat-Wilson syndrome: A study of 54 patients

  Genetics in Medicine, Volume 19, No. 6, Year 2017, Citations 58
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

  Human Mutation, Volume 41, No. 12, Year 2020, Citations 49