Éliane Chouery

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

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Lynn Adaimy, Éliane Chouery, Hala Mégarbané et al. · The American Journal of Human Genetics · 2007 · 248 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the <i>RECQL4</i> gene

Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh et al. · Journal of Medical Genetics · 2005 · 217 citations · Full text

Vibratory Urticaria Associated with a Missense Variant in <i>ADGRE2</i>

Steven E. Boyden, Avanti Desai, Glenn Cruse et al. · New England Journal of Medicine · 2016 · 195 citations · Full text