| Expanding the phenotype of the X-linked BCOR microphthalmia syndromes N Ragge, B Isidor, P Bitoun, S Odent, I Giurgea, B Cogné, W Deb, ... Human Genetics 138, 1051-1069, 2019 | 58 | 2019 |
| Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities M Jeanne, H Demory, A Moutal, ML Vuillaume, S Blesson, RA Thépault, ... The American Journal of Human Genetics 108 (5), 951-961, 2021 | 33 | 2021 |
| A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype ML Vuillaume, M Jeanne, L Xue, S Blesson, AS Denommé-Pichon, ... Annals of Neurology 83 (2), 437-439, 2018 | 25 | 2018 |
| Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth M Jeanne, ML Vuillaume, DC Ung, VE Vancollie, C Wagner, SC Collins, ... Human Genetics 140, 885-896, 2021 | 19 | 2021 |
| The roles of NEDD4 subfamily of HECT E3 ubiquitin ligases in neurodevelopment and neurodegeneration S Haouari, P Vourc’h, M Jeanne, S Marouillat, C Veyrat-Durebex, ... International journal of molecular sciences 23 (7), 3882, 2022 | 18 | 2022 |
| Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network AS Denommé-Pichon, A Vitobello, R Olaso, A Ziegler, M Jeanne, ... European Journal of Human Genetics 30 (5), 567-576, 2022 | 16 | 2022 |
| Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders F Desprez, DC Ung, P Vourc’h, M Jeanne, F Laumonnier Frontiers in Neuroscience 17, 1154446, 2023 | 15 | 2023 |
| Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability ML Vuillaume, B Cogné, M Jeanne, A Boland, DC Ung, D Quinquis, ... Clinica Chimica Acta 485, 218-223, 2018 | 13 | 2018 |
| SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance A Cordovado, M Schaettin, M Jeanne, V Panasenkava, ... Human Molecular Genetics 31 (19), 3325-3340, 2022 | 12 | 2022 |
| Expanded newborn screening using genome sequencing for early actionable conditions A Ziegler, C Koval-Burt, DM Kay, SF Suchy, A Begtrup, KG Langley, ... JAMA 333 (3), 232-240, 2025 | 10 | 2025 |
| Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool F Tran Mau-Them, J Delanne, AS Denommé-Pichon, H Safraou, AL Bruel, ... Frontiers in Genetics 14, 1099995, 2023 | 8 | 2023 |
| Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly … C von der Lippe, K Tveten, TE Prescott, ØL Holla, ØL Busk, KB Burke, ... American Journal of Medical Genetics Part A 188 (1), 272-282, 2022 | 8 | 2022 |
| Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT C Zelin, WK Chung, M Jeanne, G Zhang, C Weng Journal of Biomedical Informatics 157, 104702, 2024 | 7 | 2024 |
| Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia Y Nakamura, IS Shimada, R Maroofian, M Falabella, MS Zaki, M Fujimoto, ... Brain 147 (11), 3949-3967, 2024 | 3 | 2024 |
| O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city W Chung, A Ziegler, C Koval-Burt, D Kay, S Suchy, A Bergtrup, K Langley, ... Genetics in Medicine Open 2, 2024 | 3 | 2024 |
| Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake A Civit, P Gueguen, H Blasco, I Benz-de-Bretagne, É Lebredonchel, ... Clinica Chimica Acta 551, 117620, 2023 | 2 | 2023 |
| Melorheostosis or" dripping candle wax" bone disease S Remize, B De Courtivron, M Jeanne The Journal of Rheumatology, 2022 | 2 | 2022 |
| Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism MF Dohrn, G Bademci, AP Rebelo, M Jeanne, NA Borja, D Beijer, ... Annals of clinical and translational neurology 11 (4), 1075-1079, 2024 | 1 | 2024 |
| Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia Y Nakamura, IS Shimada, R Maroofian, H Houlden, M Falabella, ... medRxiv, 2023.04. 26.23288947, 2023 | 1 | 2023 |
| Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations M Jeanne, N Ronce, S Remizé, S Arpin, G Baujat, S Breton, F Petit, ... Journal of Medical Genetics, 2025 | | 2025 |
