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The functional and evolutionary impacts of human-specific deletions in conserved elements.
Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X; Zoonomia Consortium†; Lindblad-Toh K, Karlsson EK, Noonan JP, Capellini TD, Brennand KJ, Tewhey R, Sabeti PC, Reilly SK. Xue JR, et al. Science. 2023 Apr 28;380(6643):eabn2253. doi: 10.1126/science.abn2253. Epub 2023 Apr 28. Science. 2023. PMID: 37104592 Free PMC article.
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies.
Lopes KP, Snijders GJL, Humphrey J, Allan A, Sneeboer MAM, Navarro E, Schilder BM, Vialle RA, Parks M, Missall R, van Zuiden W, Gigase FAJ, Kübler R, van Berlekom AB, Hicks EM, Bӧttcher C, Priller J, Kahn RS, de Witte LD, Raj T. Lopes KP, et al. Nat Genet. 2022 Jan;54(1):4-17. doi: 10.1038/s41588-021-00976-y. Epub 2022 Jan 6. Nat Genet. 2022. PMID: 34992268 Free PMC article.
Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing.
Humphrey J, Brophy E, Kosoy R, Zeng B, Coccia E, Mattei D, Ravi A, Efthymiou AG, Navarro E, Muller BZ, Snijders GJ, Allan A, Münch A, Kitata RB, Kleopoulos SP, Argyriou S, Shao Z, Francoeur N, Tsai CF, Gritsenko MA, Monroe ME, Paurus VL, Weitz KK, Shi T, Sebra R, Liu T, de Witte LD, Goate AM, Bennett DA, Haroutunian V, Hoffman GE, Fullard JF, Roussos P, Raj T. Humphrey J, et al. medRxiv [Preprint]. 2023 Dec 1:2023.12.01.23299073. doi: 10.1101/2023.12.01.23299073. medRxiv. 2023. PMID: 38076956 Free PMC article. Preprint.
LRRK2 G2019S variant is associated with transcriptional changes in Parkinson's disease human myeloid cells under proinflammatory environment.
Navarro E, Efthymiou AG, Parks M, Riboldi GM, Vialle RA, Udine E, Muller BZ, Humphrey J, Allan A, Argyrou CC, Lopes KP, Münch A, Raymond D, Sachdev R, Shanker VL, Miravite J, Katsnelson V, Leaver K, Frucht S, Bressman SB, Marcora E, Saunders-Pullman R, Goate A, Raj T. Navarro E, et al. bioRxiv [Preprint]. 2024 May 31:2024.05.27.594821. doi: 10.1101/2024.05.27.594821. bioRxiv. 2024. PMID: 38854101 Free PMC article. Preprint.