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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: prada ce. 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
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa María L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ. Ramond F, et al. Among authors: prada ce. Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20. Genet Med. 2023. PMID: 36549593 Free article.
Motor Function and Physiology in Youth With Neurofibromatosis Type 1.
Doherty AC, Huddleston DA, Horn PS, Ratner N, Simpson BN, Schorry EK, Aschbacher-Smith L, Prada CE, Gilbert DL. Doherty AC, et al. Among authors: prada ce. Pediatr Neurol. 2023 Jun;143:34-43. doi: 10.1016/j.pediatrneurol.2023.02.014. Epub 2023 Mar 3. Pediatr Neurol. 2023. PMID: 36996759
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.
Harmatz P, Prada CE, Burton BK, Lau H, Kessler CM, Cao L, Falaleeva M, Villegas AG, Zeitler J, Meyer K, Miller W, Wong Po Foo C, Vaidya S, Swenson W, Shiue LH, Rouy D, Muenzer J. Harmatz P, et al. Among authors: prada ce. Mol Ther. 2022 Dec 7;30(12):3587-3600. doi: 10.1016/j.ymthe.2022.10.010. Epub 2022 Oct 25. Mol Ther. 2022. PMID: 36299240 Free PMC article.
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.
Simpson BN, Mejía Sang ME, Collado Puello Y, Diaz Brockmans EJ, Díaz Soto MF, Rivera Defilló SM, Taveras Cruz KM, Santiago Pérez JO, Husami A, Day ME, Pilipenko V, Mena R, Mota C, Hostetter MK, Muglia LJ, Schlaudecker E, Gonzalez Del Rey J, Martin LJ, Prada CE. Simpson BN, et al. Among authors: prada ce. J Pediatric Infect Dis Soc. 2023 Apr 18;12(3):169-172. doi: 10.1093/jpids/piac136. J Pediatric Infect Dis Soc. 2023. PMID: 36537278
Aminotransferase trends in propionic acidemia.
Silva MP, Raski CR, Charrow J, Baker JJ, Prada CE. Silva MP, et al. Among authors: prada ce. Am J Med Genet A. 2024 May 9:e63659. doi: 10.1002/ajmg.a.63659. Online ahead of print. Am J Med Genet A. 2024. PMID: 38722054
85 results