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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Courraud J, et al. Among authors: del mar muniz moreno m. Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345024 Free article.
Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models.
Duchon A, Del Mar Muniz Moreno M, Martin Lorenzo S, Silva de Souza MP, Chevalier C, Nalesso V, Meziane H, Loureiro de Sousa P, Noblet V, Armspach JP, Brault V, Herault Y. Duchon A, et al. Among authors: del mar muniz moreno m. Hum Mol Genet. 2021 May 28;30(9):771-788. doi: 10.1093/hmg/ddab012. Hum Mol Genet. 2021. PMID: 33693642 Free PMC article.
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
Swan AL, Schütt C, Rozman J, Del Mar Muñiz Moreno M, Brandmaier S, Simon M, Leuchtenberger S, Griffiths M, Brommage R, Keskivali-Bond P, Grallert H, Werner T, Teperino R, Becker L, Miller G, Moshiri A, Seavitt JR, Cissell DD, Meehan TF, Acar EF, Lelliott CJ, Flenniken AM, Champy MF, Sorg T, Ayadi A, Braun RE, Cater H, Dickinson ME, Flicek P, Gallegos J, Ghirardello EJ, Heaney JD, Jacquot S, Lally C, Logan JG, Teboul L, Mason J, Spielmann N, McKerlie C, Murray SA, Nutter LMJ, Odfalk KF, Parkinson H, Prochazka J, Reynolds CL, Selloum M, Spoutil F, Svenson KL, Vales TS, Wells SE, White JK, Sedlacek R, Wurst W, Lloyd KCK, Croucher PI, Fuchs H, Williams GR, Bassett JHD, Gailus-Durner V, Herault Y, Mallon AM, Brown SDM, Mayer-Kuckuk P, Hrabe de Angelis M; IMPC Consortium. Swan AL, et al. Among authors: del mar muniz moreno m. PLoS Genet. 2020 Dec 28;16(12):e1009190. doi: 10.1371/journal.pgen.1009190. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33370286 Free PMC article.
Ts66Yah, a mouse model of Down syndrome with improved construct and face validity.
Duchon A, Del Mar Muñiz Moreno M, Chevalier C, Nalesso V, Andre P, Fructuoso-Castellar M, Mondino M, Po C, Noblet V, Birling MC, Potier MC, Herault Y. Duchon A, et al. Among authors: del mar muniz moreno m. Dis Model Mech. 2022 Dec 1;15(12):dmm049721. doi: 10.1242/dmm.049721. Epub 2022 Dec 6. Dis Model Mech. 2022. PMID: 36374158 Free PMC article.