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The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.
Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J; 1000 Genomes Project Consortium; MacArthur DG, Sidow A, Duret L, Gerstein M, Makova KD, Marchini J, McVean G, Lunter G. Montgomery SB, et al. Genome Res. 2013 May;23(5):749-61. doi: 10.1101/gr.148718.112. Epub 2013 Mar 11. Genome Res. 2013. PMID: 23478400 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.
Systematic functional regulatory assessment of disease-associated variants.
Karczewski KJ, Dudley JT, Kukurba KR, Chen R, Butte AJ, Montgomery SB, Snyder M. Karczewski KJ, et al. Among authors: montgomery sb. Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9607-12. doi: 10.1073/pnas.1219099110. Epub 2013 May 20. Proc Natl Acad Sci U S A. 2013. PMID: 23690573 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.
253 results