| Huntington’s disease alters human neurodevelopment M Barnat, M Capizzi, E Aparicio, S Boluda, D Wennagel, R Kacher, ... Science 369 (6505), 787-793, 2020 | 273 | 2020 |
| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 A Goldenberg, F Riccardi, A Tessier, R Pfundt, T Busa, P Cacciagli, ... American Journal of Medical Genetics Part A 170 (11), 2847-2859, 2016 | 88 | 2016 |
| Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases A Tessier, M Sarreau, F Pelluard, G André, S Blesson, M Bucourt, ... Prenatal Diagnosis 36 (13), 1270-1275, 2016 | 35 | 2016 |
| Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene C Billon, A Molin, C Poirsier, A Clemenson, C Dauge, M Grelet, S Sigaudy, ... Clinical Genetics 98 (3), 261-273, 2020 | 27 | 2020 |
| Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy SB Miled, L Loeuillet, JPD Van Huyen, B Bessières, A Sekour, B Leroy, ... American Journal of Obstetrics and Gynecology 223 (2), 256. e1-256. e9, 2020 | 25 | 2020 |
| Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases Q Testard, X Vanhoye, K Yauy, ME Naud, G Vieville, F Rousseau, ... Journal of Medical Genetics 59 (12), 1234-1240, 2022 | 22 | 2022 |
| Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia P Jordan, C Arrondel, B Bessières, A Tessier, T Attié-Bitach, S Guterman, ... Kidney international 99 (2), 405-409, 2021 | 19 | 2021 |
| Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome NM Wilpert, F Marguet, C Maillard, F Guimiot, J Martinovic, S Drunat, ... European Journal of Medical Genetics 64 (9), 104282, 2021 | 9 | 2021 |
| The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function CT Gordon, A Tessier, Z Demir, A Goldenberg, M Oufadem, N Voisin, ... Clinical genetics 93 (2), 356-359, 2018 | 7 | 2018 |
| 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 … A Tessier, N Roux, L Boutaud, E Lunel, L Hakkakian, M Parisot, ... Acta Neuropathologica Communications 11 (1), 29, 2023 | 6 | 2023 |
| Clinical heterogeneity of NADSYN1‐associated VCRL syndrome M Aubert‐Mucca, C Janel, V Porquet‐Bordes, O Patat, R Touraine, ... Clinical Genetics 104 (1), 114-120, 2023 | 5 | 2023 |
| Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect L Boutaud, B Ruzzenente, A Tessier, O Anselem, E Pannier, S Grotto, ... Brain 146 (5), 1804-1811, 2023 | 2 | 2023 |
| Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? A Tessier, L Boutaud, AL Bruel, C Thauvin-Robinet, P Roth, V Malan, ... Clinical Genetics 98 (6), 620-621, 2020 | 1 | 2020 |
| Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22. 1p22. 3 Deletion in a 16-week-old Fetus A Tessier, P Callier, N LeMeur, T Frebourg, JC Sabourin, S Patrier Pediatric and Developmental Pathology 22 (2), 146-151, 2019 | 1 | 2019 |
| Placental mesenchymal disease: how to approach the diagnosis as early as the first trimester? A case report and a review M Smalaj, ST Paulander, A Tessier, F Buxant, M Cassart, K Gajewska | | 2024 |
| Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing M Favier, R Dard, G Gorincour, A Tessier, E Motte‐Signoret, C Duvillier, ... Prenatal Diagnosis 44 (9), 1115-1118, 2024 | | 2024 |
| An unusual presentation of de novo RAC3 variation in prenatal diagnosis C Meunier, M Cassart, K Kostyla, N Simonis, O Monestier, A Tessier Child's Nervous System 40 (5), 1597-1602, 2024 | | 2024 |
| Bi-allelic variations in CRB2, encoding the Crumbs Cell Polarity Complex Component 2, lead to noncommunicating hydrocephalus due to atresia of the Aqueduct of Sylvius and … A Tessier, N Roux, L Boutaud, E Lunel, L Hakkakian, M Parisot, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 103-103, 2024 | | 2024 |
| Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect L Boutaud, B Ruzzenente, A Tessier, O Anselem, E Pannier, S Grotto, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 436-436, 2024 | | 2024 |
| Uncertainty in prenatal molecular diagnosis: dual diagnosis in two fetuses as new challenges for further debate on reporting policies M Favier, J Delanne, G Gorincour, Y Duffourd, A Vitobello, A Garde, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 103-103, 2024 | | 2024 |
