Aude Tessier

Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.

A. Laquérriere, N. Bahi-Buisson, J. Martinovic, 2021, European journal of medical genetics.

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Y. Ville, C. Bole-Feysot, J. Rendu, 2020, Clinical genetics.

Huntington’s disease alters human neurodevelopment

C. Duyckaerts, A. Durr, S. Humbert, 2020, Science.

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus

T. Frebourg, J. Sabourin, P. Callier, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases

A. Laquérriere, A. Verloes, T. Frebourg, 2016, Prenatal diagnosis.

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

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.