Mercier, Sandra

Top Publications

Top Publications Authored or Co-Authored by "Mercier, Sandra"

• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• 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
• Mutations in FAM111b cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 81