Valérie Delague

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 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 · 249 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Jean‐Pierre Desvignes, Marc Bartoli, Valérie Delague et al. · Nucleic Acids Research · 2018 · 196 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Valérie Delague, Arnaud Jacquier, Tarik Hamadouche et al. · The American Journal of Human Genetics · 2007 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8