Vincent-Delorme, Catherine

Top Publications

Top Publications Authored or Co-Authored by "Vincent-Delorme, Catherine"

• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• 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
• 16p13.11 microduplication in 45 new patients: Refined clinical significance and genotype-phenotype correlations

  Journal of Medical Genetics, Volume 57, No. 5, Year 2020, Citations 45
• Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

  Brain Communications, Volume 3, No. 3, Article fcab162, Year 2021, Citations 40