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Population- and individual-specific regulatory variation in Sardinia.
Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB. Pala M, et al. Among authors: montgomery sb. Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10. Nat Genet. 2017. PMID: 28394350 Free PMC article.
Impact of the X Chromosome and sex on regulatory variation.
Kukurba KR, Parsana P, Balliu B, Smith KS, Zappala Z, Knowles DA, Favé MJ, Davis JR, Li X, Zhu X, Potash JB, Weissman MM, Shi J, Kundaje A, Levinson DF, Awadalla P, Mostafavi S, Battle A, Montgomery SB. Kukurba KR, et al. Among authors: montgomery sb. Genome Res. 2016 Jun;26(6):768-77. doi: 10.1101/gr.197897.115. Epub 2016 Apr 21. Genome Res. 2016. PMID: 27197214 Free PMC article.
The impact of structural variation on human gene expression.
Chiang C, Scott AJ, Davis JR, Tsang EK, Li X, Kim Y, Hadzic T, Damani FN, Ganel L; GTEx Consortium; Montgomery SB, Battle A, Conrad DF, Hall IM. Chiang C, et al. Among authors: montgomery sb. Nat Genet. 2017 May;49(5):692-699. doi: 10.1038/ng.3834. Epub 2017 Apr 3. Nat Genet. 2017. PMID: 28369037 Free PMC article.
Allele-specific expression reveals interactions between genetic variation and environment.
Knowles DA, Davis JR, Edgington H, Raj A, Favé MJ, Zhu X, Potash JB, Weissman MM, Shi J, Levinson DF, Awadalla P, Mostafavi S, Montgomery SB, Battle A. Knowles DA, et al. Among authors: montgomery sb. Nat Methods. 2017 Jul;14(7):699-702. doi: 10.1038/nmeth.4298. Epub 2017 May 22. Nat Methods. 2017. PMID: 28530654 Free PMC article.
FIRE: functional inference of genetic variants that regulate gene expression.
Ioannidis NM, Davis JR, DeGorter MK, Larson NB, McDonnell SK, French AJ, Battle AJ, Hastie TJ, Thibodeau SN, Montgomery SB, Bustamante CD, Sieh W, Whittemore AS. Ioannidis NM, et al. Among authors: montgomery sb. Bioinformatics. 2017 Dec 15;33(24):3895-3901. doi: 10.1093/bioinformatics/btx534. Bioinformatics. 2017. PMID: 28961785 Free PMC article.
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements.
Grundberg E, Meduri E, Sandling JK, Hedman AK, Keildson S, Buil A, Busche S, Yuan W, Nisbet J, Sekowska M, Wilk A, Barrett A, Small KS, Ge B, Caron M, Shin SY; Multiple Tissue Human Expression Resource Consortium; Lathrop M, Dermitzakis ET, McCarthy MI, Spector TD, Bell JT, Deloukas P. Grundberg E, et al. Am J Hum Genet. 2013 Nov 7;93(5):876-90. doi: 10.1016/j.ajhg.2013.10.004. Epub 2013 Oct 31. Am J Hum Genet. 2013. PMID: 24183450 Free PMC article.
231 results