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Deconvolution of polygenic risk score in single cells unravels cellular and molecular heterogeneity of complex human diseases.
Zhang S, Shu H, Zhou J, Rubin-Sigler J, Yang X, Liu Y, Cooper-Knock J, Monte E, Zhu C, Tu S, Li H, Tong M, Ecker JR, Ichida JK, Shen Y, Zeng J, Tsao PS, Snyder MP. Zhang S, et al. Among authors: rubin sigler j. bioRxiv [Preprint]. 2024 May 14:2024.05.14.594252. doi: 10.1101/2024.05.14.594252. bioRxiv. 2024. PMID: 38798507 Free PMC article. Preprint.
Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.
Zhang S, Moll T, Rubin-Sigler J, Tu S, Li S, Yuan E, Liu M, Butt A, Harvey C, Gornall S, Alhalthli E, Shaw A, Souza CDS, Ferraiuolo L, Hornstein E, Shelkovnikova T, van Dijk CH, Timpanaro IS, Kenna KP, Zeng J, Tsao PS, Shaw PJ, Ichida JK, Cooper-Knock J, Snyder MP. Zhang S, et al. Among authors: rubin sigler j. medRxiv [Preprint]. 2024 Apr 1:2024.03.30.24305115. doi: 10.1101/2024.03.30.24305115. medRxiv. 2024. PMID: 38633814 Free PMC article. Preprint.
SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS.
Linares GR, Li Y, Chang WH, Rubin-Sigler J, Mendonca S, Hong S, Eoh Y, Guo W, Huang YH, Chang J, Tu S, Dorjsuren N, Santana M, Hung ST, Yu J, Perez J, Chickering M, Cheng TY, Huang CC, Lee SJ, Deng HJ, Bach KT, Gray K, Subramanyam V, Rosenfeld J, Alworth SV, Goodarzi H, Ichida JK. Linares GR, et al. Among authors: rubin sigler j. Cell Stem Cell. 2023 Feb 2;30(2):171-187.e14. doi: 10.1016/j.stem.2023.01.005. Cell Stem Cell. 2023. PMID: 36736291 Free PMC article.