Aude Tessier

Huntington’s disease alters human neurodevelopment

Monia Barnat, Mariacristina Capizzi, Esther Aparicio et al. · Science · 2020 · 312 citations · Full text

Brain Development, Weeks Gestation, Genetics +19

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 · 85 citations

Developmental Anomaly, Developmental Biology, Molecular Findings +13

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 · 52 citations

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 · 34 citations · Full text

Progressive Neuronal Loss, Neurophysiology, Brain Development +9

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia

Pénélope Jordan, Christelle Arrondel, Bettina Bessières et al. · Kidney International · 2020 · 26 citations

Renal-hepatic-pancreatic Dysplasia, Autoimmune Disease, Hepatology +11