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Author Correction: 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: ramos d. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: ramos dm. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. Update in: Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162 PMID: 36747793 Free PMC article. Updated. Preprint.
A fully automated FAIMS-DIA mass spectrometry-based proteomic pipeline.
Reilly L, Lara E, Ramos D, Li Z, Pantazis CB, Stadler J, Santiana M, Roberts J, Faghri F, Hao Y, Nalls MA, Narayan P, Liu Y, Singleton AB, Cookson MR, Ward ME, Qi YA. Reilly L, et al. Among authors: ramos d. Cell Rep Methods. 2023 Oct 23;3(10):100593. doi: 10.1016/j.crmeth.2023.100593. Epub 2023 Sep 19. Cell Rep Methods. 2023. PMID: 37729920 Free PMC article.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson K, Reed X, Johnson NL, Kollasch AW, Duffy M, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Yokoyama JS, Marks DS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Res Sq [Preprint]. 2023 Oct 19:rs.3.rs-3462973. doi: 10.21203/rs.3.rs-3462973/v1. Res Sq. 2023. Update in: Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915 PMID: 37886540 Free PMC article. Updated. Preprint.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson KR, Reed X, Johnson NL, Kollasch AW, Duffy MF, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Marks DS, Yokoyama JS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. Epub 2024 Jun 26. Alzheimers Dement. 2024. PMID: 38923692 Free PMC article.
Application of Aligned-UMAP to longitudinal biomedical studies.
Dadu A, Satone VK, Kaur R, Koretsky MJ, Iwaki H, Qi YA, Ramos DM, Avants B, Hesterman J, Gunn R, Cookson MR, Ward ME, Singleton AB, Campbell RH, Nalls MA, Faghri F. Dadu A, et al. Patterns (N Y). 2023 May 8;4(6):100741. doi: 10.1016/j.patter.2023.100741. eCollection 2023 Jun 9. Patterns (N Y). 2023. PMID: 37409055 Free PMC article.
Aslanger pattern: please do not waste time.
Vicente M, Resende B, Ramos D, Gonçalves L. Vicente M, et al. Among authors: ramos d. Coron Artery Dis. 2024 Dec 18. doi: 10.1097/MCA.0000000000001471. Online ahead of print. Coron Artery Dis. 2024. PMID: 39692442 No abstract available.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: ramos dm. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
916 results