Aude Tessier

Huntington’s disease alters human neurodevelopment

Monia Barnat, Mariacristina Capizzi, Esther Aparicio et al. · Science · 2020 · 331 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +16

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i>

Alice Goldenberg, Florence Riccardi, Aude Tessier et al. · American Journal of Medical Genetics Part A · 2016 · 88 citations

Life Sciences, Genetics, Molecular Genetics +14

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Quentin Testard, Xavier Vanhoye, Kévin Yauy et al. · Journal of Medical Genetics · 2022 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy

S Ben Miled, Jean–Paul Duong Van Huyen, Bettina Bessières et al. · American Journal of Obstetrics and Gynecology · 2020 · 36 citations · Full text

Medicine, Neurology, Neuroscience +12

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of <scp><i>PDCL3</i></scp> as a novel candidate gene

Clarisse Billon, Arnaud Molin, Céline Poirsier et al. · Clinical Genetics · 2020 · 26 citations

Life Sciences, Genetics, Molecular Genetics +13