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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: bryce smith s. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ. Devoy A, et al. Among authors: bryce smith s. iScience. 2021 Nov 15;24(12):103463. doi: 10.1016/j.isci.2021.103463. eCollection 2021 Dec 17. iScience. 2021. PMID: 34988393 Free PMC article.
Erratum: Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ. Devoy A, et al. Among authors: bryce smith s. iScience. 2022 Mar 12;25(4):103999. doi: 10.1016/j.isci.2022.103999. eCollection 2022 Apr 15. iScience. 2022. PMID: 35296030 Free PMC article.
TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD.
Bryce-Smith S, Brown AL, Mehta PR, Mattedi F, Mikheenko A, Barattucci S, Zanovello M, Dattilo D, Yome M, Hill SE, Qi YA, Wilkins OG, Sun K, Ryadnov E, Wan Y; NYGC ALS Consortium; Vargas JNS, Birsa N, Raj T, Humphrey J, Keuss M, Ward M, Secrier M, Fratta P. Bryce-Smith S, et al. bioRxiv [Preprint]. 2024 Jan 23:2024.01.22.576625. doi: 10.1101/2024.01.22.576625. bioRxiv. 2024. PMID: 38313254 Free PMC article. Preprint.
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
Bryce-Smith S, Burri D, Gazzara MR, Herrmann CJ, Danecka W, Fitzsimmons CM, Wan YK, Zhuang F, Fansler MM, Fernández JM, Ferret M, Gonzalez-Uriarte A, Haynes S, Herdman C, Kanitz A, Katsantoni M, Marini F, McDonnel E, Nicolet B, Poon CL, Rot G, Schärfen L, Wu PJ, Yoon Y, Barash Y, Zavolan M. Bryce-Smith S, et al. RNA. 2023 Dec;29(12):1839-1855. doi: 10.1261/rna.079849.123. Epub 2023 Oct 10. RNA. 2023. PMID: 37816550 Free PMC article. Review.
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
Bryce-Smith S, Burri D, Gazzara MR, Herrmann CJ, Danecka W, Fitzsimmons CM, Wan YK, Zhuang F, Fansler MM, Fernández JM, Ferret M, Gonzalez-Uriarte A, Haynes S, Herdman C, Kanitz A, Katsantoni M, Marini F, McDonnel E, Nicolet B, Poon CL, Rot G, Schärfen L, Wu PJ, Yoon Y, Barash Y, Zavolan M. Bryce-Smith S, et al. bioRxiv [Preprint]. 2023 Jun 26:2023.06.23.546284. doi: 10.1101/2023.06.23.546284. bioRxiv. 2023. PMID: 37425672 Free PMC article. Updated. Preprint.