Escudier, Estelle

Top Publications

Top Publications Authored or Co-Authored by "Escudier, Estelle"

• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Nature Communications, Volume 8, Article 14279, Year 2017, Citations 124
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 89
• Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

  American Journal of Human Genetics, Volume 103, No. 6, Year 2018, Citations 85
• Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

  European Respiratory Journal, Volume 58, No. 2, Article 2002359, Year 2021, Citations 34
• Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

  Human Mutation, Volume 41, No. 1, Year 2020, Citations 24