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Abbie M. Maguire, Ph.D. - Publications

Affiliations: 
2012-2017 Molecular Biology, Cell Biology and Biochemistry Brown University, Providence, RI 
 2017- Molecular Biology, Cell Biology and Biochemistry Brown University, Providence, RI 
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7 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Leung CS, Rosenzweig S, Yoon B, Marinelli NA, Hollingsworth EW, Maguire AM, Cowen MH, Schmidt M, Imitola J, Gamsiz Uzun ED, Lizarraga SB. Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder. Human Molecular Genetics. PMID 36621967 DOI: 10.1093/hmg/ddad002  0.613
2021 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, et al. Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies. Science Translational Medicine. 13. PMID 33568516 DOI: 10.1126/scitranslmed.aaw0682  0.412
2016 Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, ... ... Maguire AM, et al. Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet (London, England). PMID 27375040 DOI: 10.1016/S0140-6736(16)30371-3  0.314
2016 Shah N, Damani MR, Zhu XS, Bedoukian EC, Bennett J, Maguire AM, Leroy BP. Isolated maculopathy associated with biallelic CRB1 mutations. Ophthalmic Genetics. 1-4. PMID 27096895 DOI: 10.3109/13816810.2016.1155225  0.469
2016 Fuerst NM, Serrano L, Han G, Morgan JI, Maguire AM, Leroy BP, Kim BJ, Aleman TS. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization. Ophthalmic Genetics. 1-8. PMID 27028354 DOI: 10.3109/13816810.2015.1126616  0.439
2015 Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM. Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 12: 553-71. PMID 26105128 DOI: 10.1007/S13311-015-0363-9  0.62
2005 Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences of the United States of America. 102: 6177-82. PMID 15837919 DOI: 10.1073/Pnas.0500646102  0.321
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