All Stories

  1. The list of syndromic developmental disorders caused by minor splicing deficiency keeps expanding

    Article • Proceedings of the National Academy of Sciences, February 2023, Proceedings of the National Academy of Sciences

    Marion Delous, Dr Deepak Khatri, Sylvie Mazoyer

  2. Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

    Article • PLoS ONE, July 2020, PLOS

    Sylvie Mazoyer