Jacqueline Bou

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Grégory Raux, Emilie Bumsel, B. Hecketsweiler et al. · Human Molecular Genetics · 2006 · 170 citations

Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndrome

Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry et al. · Journal of Medical Genetics · 2017 · 113 citations

Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila

Olivier Blard, Sébastien Feuillette, Jacqueline Bou et al. · Human Molecular Genetics · 2007 · 112 citations · Full text

Neurodegenerative Diseases, Protein Function, Developmental Biology +13

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Kévin Cassinari, Sophie Coutant et al. · European Journal of Human Genetics · 2020 · 41 citations · Full text

Read Depth Information, Engineering, Data Science +8

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

Myriam Vézain, Pascale Saugier-Véber, Judith Melki et al. · European Journal of Human Genetics · 2007 · 36 citations · Full text

Muscle Function, Skeletal Muscle, Physiology +6