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RNA editing underlies genetic risk of common inflammatory diseases.
Li Q, Gloudemans MJ, Geisinger JM, Fan B, Aguet F, Sun T, Ramaswami G, Li YI, Ma JB, Pritchard JK, Montgomery SB, Li JB. Li Q, et al. Nature. 2022 Aug;608(7923):569-577. doi: 10.1038/s41586-022-05052-x. Epub 2022 Aug 3. Nature. 2022. PMID: 35922514 Free PMC article.
A lymphocyte chemoaffinity axis for lung, non-intestinal mucosae and CNS.
Ocón B, Xiang M, Bi Y, Tan S, Brulois K, Ayesha A, Kunte M, Zhou C, LaJevic M, Lazarus N, Mengoni F, Sharma T, Montgomery S, Hooper JE, Huang M, Handel T, Dawson JRD, Kufareva I, Zabel BA, Pan J, Butcher EC. Ocón B, et al. Nature. 2024 Nov;635(8039):736-745. doi: 10.1038/s41586-024-08043-2. Epub 2024 Sep 18. Nature. 2024. PMID: 39293486 Free PMC article.
Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders.
Zhou B, Arthur JG, Guo H, Kim T, Huang Y, Pattni R, Wang T, Kundu S, Luo JXJ, Lee H, Nachun DC, Purmann C, Monte EM, Weimer AK, Qu PP, Shi M, Jiang L, Yang X, Fullard JF, Bendl J, Girdhar K, Kim M, Chen X; PsychENCODE Consortium; Greenleaf WJ, Duncan L, Ji HP, Zhu X, Song G, Montgomery SB, Palejev D, Zu Dohna H, Roussos P, Kundaje A, Hallmayer JF, Snyder MP, Wong WH, Urban AE. Zhou B, et al. Cell. 2024 Nov 14;187(23):6687-6706.e25. doi: 10.1016/j.cell.2024.09.014. Epub 2024 Sep 30. Cell. 2024. PMID: 39353437
Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.
Guo MG, Reynolds DL, Ang CE, Liu Y, Zhao Y, Donohue LKH, Siprashvili Z, Yang X, Yoo Y, Mondal S, Hong A, Kain J, Meservey L, Fabo T, Elfaki I, Kellman LN, Abell NS, Pershad Y, Bayat V, Etminani P, Holodniy M, Geschwind DH, Montgomery SB, Duncan LE, Urban AE, Altman RB, Wernig M, Khavari PA. Guo MG, et al. Nat Genet. 2023 Nov;55(11):1876-1891. doi: 10.1038/s41588-023-01533-5. Epub 2023 Oct 19. Nat Genet. 2023. PMID: 37857935 Free PMC article.
The functional impact of rare variation across the regulatory cascade.
Li T, Ferraro N, Strober BJ, Aguet F, Kasela S, Arvanitis M, Ni B, Wiel L, Hershberg E, Ardlie K, Arking DE, Beer RL, Brody J, Blackwell TW, Clish C, Gabriel S, Gerszten R, Guo X, Gupta N, Johnson WC, Lappalainen T, Lin HJ, Liu Y, Nickerson DA, Papanicolaou G, Pritchard JK, Qasba P, Shojaie A, Smith J, Sotoodehnia N, Taylor KD, Tracy RP, Van Den Berg D, Wheeler MT, Rich SS, Rotter JI, Battle A, Montgomery SB. Li T, et al. Cell Genom. 2023 Sep 6;3(10):100401. doi: 10.1016/j.xgen.2023.100401. eCollection 2023 Oct 11. Cell Genom. 2023. PMID: 37868038 Free PMC article.
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. Update in: Genome Res. 2025 Apr 14;35(4):914-928. doi: 10.1101/gr.279323.124. PMID: 38585781 Free PMC article. Updated. Preprint.
Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise.
Rubenstein AB, Smith GR, Zhang Z, Chen X, Chambers TL, Ruf-Zamojski F, Mendelev N, Cheng WS, Zamojski M, Amper MAS, Nair VD, Marderstein AR, Montgomery SB, Troyanskaya OG, Zaslavsky E, Trappe T, Trappe S, Sealfon SC. Rubenstein AB, et al. bioRxiv [Preprint]. 2023 Oct 9:2023.09.26.558914. doi: 10.1101/2023.09.26.558914. bioRxiv. 2023. Update in: Genome Res. 2025 Jun 12. doi: 10.1101/gr.280051.124. PMID: 37808658 Free PMC article. Updated. Preprint.
18 results