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Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. Mullegama SV, et al. Among authors: nguyen dc. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.146. Epub 2017 Sep 21. Genet Med. 2017. PMID: 28933790 Free article. No abstract available.
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K; UCLA Clinical Genomics Center; Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. Mullegama SV, et al. Among authors: nguyen dc. Am J Med Genet A. 2017 May;173(5):1319-1327. doi: 10.1002/ajmg.a.38207. Epub 2017 Mar 11. Am J Med Genet A. 2017. PMID: 28296084 Free PMC article.
Durlobactam in combination with β-lactams to combat Mycobacterium abscessus.
Shin E, Dousa KM, Taracila MA, Bethel CR, Nantongo M, Nguyen DC, Akusobi C, Kurz SG, Plummer MS, Daley CL, Holland SM, Rubin EJ, Bulitta JB, Boom WH, Kreiswirth BN, Bonomo RA. Shin E, et al. Among authors: nguyen dc. Antimicrob Agents Chemother. 2024 Dec 23:e0117424. doi: 10.1128/aac.01174-24. Online ahead of print. Antimicrob Agents Chemother. 2024. PMID: 39714147 Free article.
Natural malaria infection elicits rare but potent neutralizing antibodies to the blood-stage antigen RH5.
Wang LT, Cooper AJR, Farrell B, Miura K, Diouf A, Müller-Sienerth N, Crosnier C, Purser L, Kirtley PJ, Maciuszek M, Barrett JR, McHugh K, Ogwang R, Tucker C, Li S, Doumbo S, Doumtabe D, Pyo CW, Skinner J, Nielsen CM, Silk SE, Kayentao K, Ongoiba A, Zhao M, Nguyen DC, Lee FE, Minassian AM, Geraghty DE, Traore B, Seder RA, Wilder BK, Crompton PD, Wright GJ, Long CA, Draper SJ, Higgins MK, Tan J. Wang LT, et al. Among authors: nguyen dc. Cell. 2024 Sep 5;187(18):4981-4995.e14. doi: 10.1016/j.cell.2024.06.037. Epub 2024 Jul 25. Cell. 2024. PMID: 39059381 Free PMC article.
222 results