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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: shah si. 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.
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics.
Li Z, Weller CA, Shah S, Johnson N, Hao Y, Roberts J, Bereda C, Klaisner S, Machado P, Fratta P, Petrucelli L, Prudencio M, Oskarsson B, Staff NP, Dickson DW, Cookson MR, Ward ME, Singleton AB, Nalls MA, Qi YA. Li Z, et al. bioRxiv [Preprint]. 2023 Dec 13:2023.12.12.571327. doi: 10.1101/2023.12.12.571327. bioRxiv. 2023. Update in: Genomics Proteomics Bioinformatics. 2024 Nov 22:qzae083. doi: 10.1093/gpbjnl/qzae083 PMID: 38168437 Free PMC article. Updated. Preprint.
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 YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colón-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: shah si. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467 Free PMC article.
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Alvarez Jerez P, Daida K, Grenn FP, Malik L, Miano-Burkhardt A, Makarious MB, Ding J, Gibbs JR, Moore A, Reed X, Nalls MA, Shah S, Mahmoud M, Sedlazeck FJ, Dolzhenko E, Park M, Iwaki H, Casey B, Ryten M, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. NPJ Parkinsons Dis. 2024 Jul 26;10(1):136. doi: 10.1038/s41531-024-00749-4. NPJ Parkinsons Dis. 2024. PMID: 39060285 Free PMC article.
A new AI-assisted data standard accelerates interoperability in biomedical research.
Long RA, Ballard S, Shah S, Bianchi O, Jones L, Koretsky MJ, Kuznetsov N, Marsan E, Jen B, Chiang P, Mukherjee A, Blauwendraat C, Leonard H, Vitale D, Levine K, Bandres-Ciga S, Jarreau P, Brannelly P, Pantazis C, Screven L, Andersh K, Kapasi A, Crary JF, Gutman D, Dugger BN, Biber S, Hohman T, Faghri F, Griswold M, Sargent L, van Keuren-Jensen K, Singleton AB, Fann Y, Nalls MA, Iwaki H. Long RA, et al. medRxiv [Preprint]. 2024 Nov 7:2024.10.17.24315618. doi: 10.1101/2024.10.17.24315618. medRxiv. 2024. PMID: 39484274 Free PMC article. Preprint.
Deep-Learning-Based Segmentation of Cells and Analysis (DL-SCAN).
Bhattarai A, Meyer J, Petersilie L, Shah SI, Neu LA, Rose CR, Ullah G. Bhattarai A, et al. Among authors: shah si. Biomolecules. 2024 Oct 23;14(11):1348. doi: 10.3390/biom14111348. Biomolecules. 2024. PMID: 39595525 Free PMC article.
184 results