Chouery, Éliane

Top Publications

Top Publications Authored or Co-Authored by "Chouery, Éliane"

• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia

  American Journal of Human Genetics, Volume 81, No. 4, Year 2007, Citations 234
• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

  Journal of Medical Genetics, Volume 43, No. 2, Year 2006, Citations 203
• Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal γ subunit

  American Journal of Human Genetics, Volume 79, No. 2, Year 2006, Citations 149