| Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ... Journal of medical genetics 51 (11), 724-736, 2014 | 304 | 2014 |
| Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance APL Marsh, D Heron, TJ Edwards, A Quartier, C Galea, C Nava, ... Nature genetics 49 (4), 511-514, 2017 | 108 | 2017 |
| Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule B Hébert, S Pietropaolo, S Même, B Laudier, A Laugeray, N Doisne, ... Orphanet journal of rare diseases 9, 1-10, 2014 | 100 | 2014 |
| Genes and pathways regulated by androgens in human neural cells, potential candidates for the male excess in autism spectrum disorder A Quartier, L Chatrousse, C Redin, C Keime, N Haumesser, ... Biological Psychiatry 84 (4), 239-252, 2018 | 80 | 2018 |
| Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome A Quartier, H Poquet, B Gilbert-Dussardier, M Rossi, AS Casteleyn, ... European Journal of Human Genetics 25 (4), 423-431, 2017 | 68 | 2017 |
| Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment A Quartier, J Courraud, T Thi Ha, G McGillivray, B Isidor, K Rose, N Drouot, ... Human mutation 40 (11), 2021-2032, 2019 | 62 | 2019 |
| Sex-specific impact of prenatal androgens on social brain default mode subsystems MV Lombardo, B Auyeung, T Pramparo, A Quartier, J Courraud, RJ Holt, ... Molecular Psychiatry 25 (9), 2175-2188, 2020 | 49 | 2020 |
| De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal extension and cause a severe form of neurodevelopmental disorder F Mattioli, G Hayot, N Drouot, B Isidor, J Courraud, MV Hinckelmann, ... The American Journal of Human Genetics 106 (4), 438-452, 2020 | 32 | 2020 |
| Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome J Courraud, C Engel, A Quartier, N Drouot, U Houessou, D Plassard, ... Molecular Psychiatry 29 (2), 287-296, 2024 | 2 | 2024 |
| Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems M V. Lombardo, B Auyeung, T Pramparo, A Quartier, J Courraud, R J. Holt, ... bioRxiv, 253310, 2018 | 2 | 2018 |
| Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of … F Mattioli, G Hayot, N Drouot, B Isidor, J Courraud, FT Mau-Them, ... bioRxiv, 858696, 2019 | | 2019 |
| Functional investigation for Variant of Unknown significance in intellectual disability genes NLGN3, PQBP1 and DYRK1A J Courraud, A Quartier, I Boujelbene, V Kalscheuer, J Mandel, A Piton EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1408-1408, 2019 | | 2019 |
| Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetrance APL Marsh, D Heron, TJ Edwards, A Quartier, A Rastetter, C Nava, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 110-111, 2018 | | 2018 |
| Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems B Auyeung, T Pramparo, A Quartier, J Courraud, J Waldman, N Mooney, ... | | 2018 |
| Etudes des mécanismes à l'origine de l'excès de garçons dans la déficience intellectuelle et les troubles du spectre autistique A Quartier Université de Strasbourg, 2017 | | 2017 |
| DYRK1A roles in human neural progenitors J Courraud, A Quartier, N Drouot, I Zapata-Bodalo, J Gilet, A Benchoua, ... Frontiers in Neuroscience 19, 1533253, 0 | | |