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16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Buttermore ED, Anderson NC, Chen PF, Makhortova NR, Kim KH, Wafa SMA, Dwyer S, Micozzi JM, Winden KD, Zhang B, Han MJ, Kleiman RJ, Brownstein CA, Sahin M, Gonzalez-Heydrich J. Buttermore ED, et al. Among authors: makhortova nr. Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022. Front Psychiatry. 2022. PMID: 36405918 Free PMC article.
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Shum C, Han SY, Thiruvahindrapuram B, Wang Z, de Rijke J, Zhang B, Sundberg M, Chen C, Buttermore ED, Makhortova N, Howe J, Sahin M, Scherer SW. Shum C, et al. Comput Struct Biotechnol J. 2023 Dec 29;23:638-647. doi: 10.1016/j.csbj.2023.12.036. eCollection 2024 Dec. Comput Struct Biotechnol J. 2023. PMID: 38283851 Free PMC article.
Applying Deep Neural Network Analysis to High-Content Image-Based Assays.
Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL. Yang SJ, et al. Among authors: makhortova nr. SLAS Discov. 2019 Sep;24(8):829-841. doi: 10.1177/2472555219857715. Epub 2019 Jul 8. SLAS Discov. 2019. PMID: 31284814 Free PMC article.
Systemic nature of spinal muscular atrophy revealed by studying insurance claims.
Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL. Lipnick SL, et al. Among authors: makhortova nr. PLoS One. 2019 Mar 14;14(3):e0213680. doi: 10.1371/journal.pone.0213680. eCollection 2019. PLoS One. 2019. PMID: 30870495 Free PMC article.
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.
Rodriguez-Muela N, Litterman NK, Norabuena EM, Mull JL, Galazo MJ, Sun C, Ng SY, Makhortova NR, White A, Lynes MM, Chung WK, Davidow LS, Macklis JD, Rubin LL. Rodriguez-Muela N, et al. Among authors: makhortova nr. Cell Rep. 2017 Feb 7;18(6):1484-1498. doi: 10.1016/j.celrep.2017.01.035. Cell Rep. 2017. PMID: 28178525 Free PMC article.
A screen for regulators of survival of motor neuron protein levels.
Makhortova NR, Hayhurst M, Cerqueira A, Sinor-Anderson AD, Zhao WN, Heiser PW, Arvanites AC, Davidow LS, Waldon ZO, Steen JA, Lam K, Ngo HD, Rubin LL. Makhortova NR, et al. Nat Chem Biol. 2011 Jun 19;7(8):544-52. doi: 10.1038/nchembio.595. Nat Chem Biol. 2011. PMID: 21685895 Free PMC article.