Guipponi, Michel

Top Publications

Top Publications Authored or Co-Authored by "Guipponi, Michel"

• Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

  PLoS Genetics, Volume 11, No. 1, Article e1004958, Year 2015, Citations 185
• 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
• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 76
• Biallelic variants in KIF14 cause intellectual disability with microcephaly

  European Journal of Human Genetics, Volume 26, No. 3, Year 2018, Citations 53