Amiel, Jeanne

Top Publications

Top Publications Authored or Co-Authored by "Amiel, Jeanne"

• Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

  Nature Genetics, Volume 39, No. 4, Year 2007, Citations 196
• MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

  Journal of Medical Genetics, Volume 38, No. 3, Year 2001, Citations 98
• 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
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89