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Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
Lizarraga SB, Ma L, Maguire AM, van Dyck LI, Wu Q, Ouyang Q, Kavanaugh BC, Nagda D, Livi LL, Pescosolido MF, Schmidt M, Alabi S, Cowen MH, Brito-Vargas P, Hoffman-Kim D, Gamsiz Uzun ED, Schlessinger A, Jones RN, Morrow EM. Lizarraga SB, et al. Among authors: maguire am. Sci Transl Med. 2021 Feb 10;13(580):eaaw0682. doi: 10.1126/scitranslmed.aaw0682. Sci Transl Med. 2021. PMID: 33568516 Free PMC article.
Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder.
Leung CS, Rosenzweig SJ, Yoon B, Marinelli NA, Hollingsworth EW, Maguire AM, Cowen MH, Schmidt M, Imitola J, Gamsiz Uzun ED, Lizarraga SB. Leung CS, et al. Among authors: maguire am. Hum Mol Genet. 2023 May 5;32(10):1634-1646. doi: 10.1093/hmg/ddad002. Hum Mol Genet. 2023. PMID: 36621967 Free PMC article.
Gene Editing for CEP290-Associated Retinal Degeneration.
Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, Comander JI, Lauer AK, Maguire AM, Pennesi ME. Pierce EA, et al. Among authors: maguire am. N Engl J Med. 2024 May 6. doi: 10.1056/NEJMoa2309915. Online ahead of print. N Engl J Med. 2024. PMID: 38709228
224 results