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2019 3
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2022 5
2023 1
2024 0

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Page 1
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.
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits.
Patel RA, Musharoff SA, Spence JP, Pimentel H, Tcheandjieu C, Mostafavi H, Sinnott-Armstrong N, Clarke SL, Smith CJ; V.A. Million Veteran Program; Durda PP, Taylor KD, Tracy R, Liu Y, Johnson WC, Aguet F, Ardlie KG, Gabriel S, Smith J, Nickerson DA, Rich SS, Rotter JI, Tsao PS, Assimes TL, Pritchard JK. Patel RA, et al. Am J Hum Genet. 2022 Jul 7;109(7):1286-1297. doi: 10.1016/j.ajhg.2022.05.014. Epub 2022 Jun 17. Am J Hum Genet. 2022. PMID: 35716666 Free PMC article.
Integration of rare expression outlier-associated variants improves polygenic risk prediction.
Smail C, Ferraro NM, Hui Q, Durrant MG, Aguirre M, Tanigawa Y, Keever-Keigher MR, Rao AS, Justesen JM, Li X, Gloudemans MJ, Assimes TL, Kooperberg C, Reiner AP, Huang J, O'Donnell CJ, Sun YV; Million Veteran Program; Rivas MA, Montgomery SB. Smail C, et al. Am J Hum Genet. 2022 Jun 2;109(6):1055-1064. doi: 10.1016/j.ajhg.2022.04.015. Epub 2022 May 18. Am J Hum Genet. 2022. PMID: 35588732 Free PMC article.
Multiple causal variants underlie genetic associations in humans.
Abell NS, DeGorter MK, Gloudemans MJ, Greenwald E, Smith KS, He Z, Montgomery SB. Abell NS, et al. Science. 2022 Mar 18;375(6586):1247-1254. doi: 10.1126/science.abj5117. Epub 2022 Mar 17. Science. 2022. PMID: 35298243 Free PMC article.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
de Goede OM, Nachun DC, Ferraro NM, Gloudemans MJ, Rao AS, Smail C, Eulalio TY, Aguet F, Ng B, Xu J, Barbeira AN, Castel SE, Kim-Hellmuth S, Park Y, Scott AJ, Strober BJ; GTEx Consortium; Brown CD, Wen X, Hall IM, Battle A, Lappalainen T, Im HK, Ardlie KG, Mostafavi S, Quertermous T, Kirkegaard K, Montgomery SB. de Goede OM, et al. Cell. 2021 May 13;184(10):2633-2648.e19. doi: 10.1016/j.cell.2021.03.050. Epub 2021 Apr 16. Cell. 2021. PMID: 33864768 Free PMC article.
15 results