| A framework to identify contributing genes in patients with Phelan-McDermid syndrome AC Tabet, T Rolland, M Ducloy, J Lévy, J Buratti, A Mathieu, D Haye, ... NPJ genomic medicine 2 (1), 32, 2017 | 92 | 2017 |
| Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders C Schluth-Bolard, F Diguet, N Chatron, PA Rollat-Farnier, C Bardel, ... Journal of Medical Genetics 56 (8), 526-535, 2019 | 74 | 2019 |
| Familial Turner syndrome with an X; Y translocation mosaicism: implications for genetic counseling MF Portnoï, S Chantot-Bastaraud, S Christin-Maitre, B Carbonne, ... European Journal of Medical Genetics 55 (11), 635-640, 2012 | 38 | 2012 |
| Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans TL Le, L Galmiche, J Levy, P Suwannarat, DMEI Hellebrekers, ... The Journal of clinical investigation 131 (6), 2021 | 35 | 2021 |
| NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder J Lévy, S Grotto, C Mignot, A Maruani, A Delahaye‐Duriez, B Benzacken, ... Clinical Genetics 94 (2), 264-268, 2018 | 35 | 2018 |
| Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency A Zawerton, C Mignot, A Sigafoos, PR Blackburn, A Haseeb, K McWalter, ... Genetics in Medicine 22 (3), 524-537, 2020 | 34 | 2020 |
| Molecular and clinical delineation of 2p15p16. 1 microdeletion syndrome J Lévy, A Coussement, C Dupont, F Guimiot, C Baumann, G Viot, ... American Journal of Medical Genetics Part A 173 (8), 2081-2087, 2017 | 27 | 2017 |
| Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13 BE Russell, KG Whaley, KE Bove, A Labilloy, RC Lombardo, RJ Hopkin, ... Hepatology 70 (3), 1066-1070, 2019 | 26 | 2019 |
| Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder X Latypova, M Vincent, A Mollé, OA Adebambo, C Fourgeux, TN Khan, ... The American Journal of Human Genetics 108 (5), 929-941, 2021 | 25 | 2021 |
| EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder J Lévy, D Haye, N Marziliano, G Casu, F Guimiot, C Dupont, N Teissier, ... Clinical Genetics 93 (6), 1141-1147, 2018 | 25 | 2018 |
| The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) GAC Franken, D Müller, C Mignot, B Keren, J Lévy, AC Tabet, ... Human mutation 42 (4), 473-486, 2021 | 23 | 2021 |
| Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus M Wagner, J Lévy, S Jung-Klawitter, S Bakhtiari, F Monteiro, R Maroofian, ... Genetics in Medicine 22 (6), 1061-1068, 2020 | 23 | 2020 |
| LEF1 haploinsufficiency causes ectodermal dysplasia J Lévy, Y Capri, M Rachid, C Dupont, JR Vermeesch, K Devriendt, ... Clinical Genetics 97 (4), 595-600, 2020 | 22 | 2020 |
| Failure of ossification of the occipital bone in mandibuloacral dysplasia type B D Haye, H Dridi, J Levy, V Lambert, M Lambert, M Agha, F Adjimi, ... American Journal of Medical Genetics Part A 170 (10), 2750-2755, 2016 | 20 | 2016 |
| The different clinical facets of SYN1-related neurodevelopmental disorders I Parenti, E Leitão, A Kuechler, L Villard, C Goizet, C Courdier, A Bayat, ... Frontiers in cell and developmental biology 10, 1019715, 2022 | 16 | 2022 |
| Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders T Husson, F Lecoquierre, G Nicolas, AC Richard, A Afenjar, ... European Journal of Human Genetics 32 (2), 190-199, 2024 | 14 | 2024 |
| 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients C Jacquin, E Landais, C Poirsier, A Afenjar, A Akhavi, N Bednarek, ... American Journal of Medical Genetics Part A 191 (2), 445-458, 2023 | 13 | 2023 |
| Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder J Lévy, G Cogan, A Maruani, A Maillard, C Dupont, S Drunat, M Rachid, ... Clinical Genetics 101 (3), 364-370, 2022 | 10 | 2022 |
| CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology H Oppermann, E Marcos-Grañeda, LA Weiss, CA Gurnett, AM Jelsig, ... European Journal of Human Genetics 31 (11), 1251-1260, 2023 | 9 | 2023 |
| TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22. 2 deletions H Hijazi, LM Reis, D Pehlivan, JA Bernstein, M Muriello, E Syverson, ... The American Journal of Human Genetics 109 (12), 2270-2282, 2022 | 9 | 2022 |
