Doco-Fenzy, Martine

Top Publications

Top Publications Authored or Co-Authored by "Doco-Fenzy, Martine"

• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

  Clinical Genetics, Volume 84, No. 6, Year 2013, Citations 61
• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

  Clinical Genetics, Volume 102, No. 2, Year 2022, Citations 57
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54
• Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

  Journal of Medical Genetics, Volume 59, No. 4, Year 2022, Citations 47