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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Among authors: borrie sc. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Alpha2-Containing Glycine Receptors Promote Neonatal Spontaneous Activity of Striatal Medium Spiny Neurons and Support Maturation of Glutamatergic Inputs.
Comhair J, Devoght J, Morelli G, Harvey RJ, Briz V, Borrie SC, Bagni C, Rigo JM, Schiffmann SN, Gall D, Brône B, Molchanova SM. Comhair J, et al. Among authors: borrie sc. Front Mol Neurosci. 2018 Oct 15;11:380. doi: 10.3389/fnmol.2018.00380. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30374290 Free PMC article.
Neurons acetylate their way to migration.
Borrie SC, Bagni C. Borrie SC, et al. EMBO Rep. 2016 Dec;17(12):1674-1676. doi: 10.15252/embr.201643427. Epub 2016 Oct 21. EMBO Rep. 2016. PMID: 27797856 Free PMC article.
Autism Spectrum Disorders: Translating human deficits into mouse behavior.
Pasciuto E, Borrie SC, Kanellopoulos AK, Santos AR, Cappuyns E, D'Andrea L, Pacini L, Bagni C. Pasciuto E, et al. Among authors: borrie sc. Neurobiol Learn Mem. 2015 Oct;124:71-87. doi: 10.1016/j.nlm.2015.07.013. Epub 2015 Jul 26. Neurobiol Learn Mem. 2015. PMID: 26220900 Review.
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