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Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.
Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Mohnike K, Prada CE, Kubota T, Arundel P, Leiva-Gea A, Rowell R, Low A, Sabir I, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: prada ce. Genet Med. 2024 Sep 18;26(12):101274. doi: 10.1016/j.gim.2024.101274. Online ahead of print. Genet Med. 2024. PMID: 39305160 Free article.
Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020.
Day ME, Puello YC, Mejía Sang ME, Diaz Brockmans EJ, Díaz Soto MF, Rivera Defilló SM, Taveras Cruz KM, Santiago Pérez JO, Meña R, Mota C, Hostetter MK, Muglia LJ, Del Rey JG, Schlaudecker EP, Martin LJ, Simpson BN, Prada CE. Day ME, et al. Among authors: prada ce. Biomed Res Int. 2024 Aug 3;2024:3716786. doi: 10.1155/2024/3716786. eCollection 2024. Biomed Res Int. 2024. PMID: 39130533 Free PMC article.
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Liu AC, Shen Y, Serbinski CR, He H, Roman D, Endale M, Aschbacher-Smith L, King KA, Granadillo JL, López I, Krueger DA, Dye TJ, Smith DF, Hogenesch JB, Prada CE. Liu AC, et al. Among authors: prada ce. HGG Adv. 2024 Oct 10;5(4):100333. doi: 10.1016/j.xhgg.2024.100333. Epub 2024 Jul 17. HGG Adv. 2024. PMID: 39030910 Free PMC article.
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Garzon JP, Patete A, Aschbacher-Smith L, Qu'd D, Kelly-Mancuso G, Raski CR, Weisman AG, Hankins M, Sawin M, Kim K, Drackley A, Zeid J, Weaver KN, Hopkin RJ, Saal HM, Charrow J, Schorry E, Listernick R, Simpson BN, Prada CE. Garzon JP, et al. Among authors: prada ce. Am J Med Genet C Semin Med Genet. 2024 Jul 18:e32095. doi: 10.1002/ajmg.c.32095. Online ahead of print. Am J Med Genet C Semin Med Genet. 2024. PMID: 39022906
Dandy-Walker malformation in an individual with ABL1 variant.
Garzon JP, Pardo AC, Raski CR, Prada CE. Garzon JP, et al. Among authors: prada ce. Am J Med Genet A. 2024 Oct;194(10):e63718. doi: 10.1002/ajmg.a.63718. Epub 2024 May 17. Am J Med Genet A. 2024. PMID: 38760987
92 results