Trimouille, Aurelién

Top Publications

Top Publications Authored or Co-Authored by "Trimouille, Aurelién"

• 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
• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

  Journal of Medical Genetics, Volume 59, No. 10, Year 2022, Citations 72
• Neuroimaging findings in Mowat-Wilson syndrome: A study of 54 patients

  Genetics in Medicine, Volume 19, No. 6, Year 2017, Citations 58
• ARF1 -related disorder: Phenotypic and molecular spectrum

  Journal of Medical Genetics, Article 108803, Year 2023, Citations 49
• Implication of folate deficiency in CYP2U1 loss of function

  Journal of Experimental Medicine, Volume 218, No. 11, Article e20210846, Year 2021, Citations 48