Fradin, Mélanie

Top Publications

Top Publications Authored or Co-Authored by "Fradin, Mélanie"

• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• Identification of CANT1 Mutations in Desbuquois Dysplasia

  American Journal of Human Genetics, Volume 85, No. 5, Year 2009, Citations 86
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

  eBioMedicine, Volume 84, Article 104246, Year 2022, Citations 58
• 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