A. Tessier

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.

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.

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

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

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renalhepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020 .

Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020, Kidney international.

Huntington’s disease alters human neurodevelopment

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

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

Y. Ville, F. Causeret, H. Adle-Biassette, 2020, American journal of obstetrics and gynecology.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

P. Nitschké, F. Encha-Razavi, J. Amiel, 2023, Acta Neuropathologica Communications.

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.

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.

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.

Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report

F. Vialard, P. Bouvagnet, T. Quibel, 2023, BMC Cardiovascular Disorders.

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

R. Touraine, V. Cormier-Daire, T. Attié-Bitach, 2023, Clinical genetics.