Cordier, Marie Pierre

Top Publications

Top Publications Authored or Co-Authored by "Cordier, Marie Pierre"

• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 89
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

  Clinical Genetics, Volume 87, No. 3, Year 2015, Citations 50
• 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