Aurélie Toussaint

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier et al. · Acta Neuropathologica Communications · 2014 · 131 citations · Full text

Medicine, Developmental Biology, Genetics +17

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

Nadia Bahi‐Buisson, Isabelle Souville, Franck J. Fourniol et al. · Brain · 2013 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

Caroline Marty, Cécile Saint‐Martin, C. Pecquet et al. · Blood · 2014 · 73 citations

Medicine, Genetics, Hematology +15

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Sandra Mercier, Annick Toutain, Aurélie Toussaint et al. · European Journal of Human Genetics · 2013 · 68 citations · Full text

Medicine, Child Health, Pediatrics +8

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Mariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun et al. · Human Molecular Genetics · 2014 · 41 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17