Quélin, Chloé

Top Publications

Top Publications Authored or Co-Authored by "Quélin, Chloé"

• 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
• Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

  Brain, Volume 142, No. 9, Year 2019, Citations 26
• Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

  Clinical Genetics, Volume 91, No. 6, Year 2017, Citations 25