Julia, Sophie

Top Publications

Top Publications Authored or Co-Authored by "Julia, Sophie"

• 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
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

  Clinical Genetics, Volume 84, No. 6, Year 2013, Citations 61
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54
• Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 44
• Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

  American Journal of Medical Genetics, Part A, Volume 164, No. 8, Year 2014, Citations 28