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The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Zampaglione E, Maher M, Place EM, Wagner NE, DiTroia S, Chao KR, England E, Cmg B, Catomeris A, Nassiri S, Himes S, Pagliarulo J, Ferguson C, Galdikaité-Braziené E, Cole B, Pierce EA, Bujakowska KM. Zampaglione E, et al. Among authors: nassiri s. Genet Med. 2022 Feb;24(2):332-343. doi: 10.1016/j.gim.2021.09.015. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906470 Free PMC article.
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Among authors: nassiri s. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
Reply to Green-Gomez et al. Comment on "Richer et al. Night Vision and Carotenoids (NVC): A Randomized Placebo Controlled Clinical Trial on Effects of Carotenoid Supplementation on Night Vision in Older Adults. Nutrients 2021, 13, 3191".
Richer S, Novil S, Gullett T, Dervishi A, Nassiri S, Duong C, Davis R, Davey PG. Richer S, et al. Among authors: nassiri s. Nutrients. 2022 Jul 5;14(13):2770. doi: 10.3390/nu14132770. Nutrients. 2022. PMID: 35807950 Free PMC article. Clinical Trial.
Activation of the transcription factor NFAT5 in the tumor microenvironment enforces CD8+ T cell exhaustion.
Tillé L, Cropp D, Charmoy M, Reichenbach P, Andreatta M, Wyss T, Bodley G, Crespo I, Nassiri S, Lourenco J, Leblond MM, Lopez-Rodriguez C, Speiser DE, Coukos G, Irving M, Carmona SJ, Held W, Verdeil G. Tillé L, et al. Among authors: nassiri s. Nat Immunol. 2023 Oct;24(10):1645-1653. doi: 10.1038/s41590-023-01614-x. Epub 2023 Sep 14. Nat Immunol. 2023. PMID: 37709986
148 results