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Non-Coding Loss-of-Function Variation in Human Genomes.
Zappala Z, Montgomery SB. Zappala Z, et al. Among authors: montgomery sb. Hum Hered. 2016;81(2):78-87. doi: 10.1159/000447453. Epub 2017 Jan 12. Hum Hered. 2016. PMID: 28076858 Free PMC article. Review.
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.
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.
Passive and active DNA methylation and the interplay with genetic variation in gene regulation.
Gutierrez-Arcelus M, Lappalainen T, Montgomery SB, Buil A, Ongen H, Yurovsky A, Bryois J, Giger T, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Padioleau I, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET. Gutierrez-Arcelus M, et al. Among authors: montgomery sb. Elife. 2013 Jun 4;2:e00523. doi: 10.7554/eLife.00523. Elife. 2013. PMID: 23755361 Free PMC article.
Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing.
Mostafavi S, Battle A, Zhu X, Potash JB, Weissman MM, Shi J, Beckman K, Haudenschild C, McCormick C, Mei R, Gameroff MJ, Gindes H, Adams P, Goes FS, Mondimore FM, MacKinnon DF, Notes L, Schweizer B, Furman D, Montgomery SB, Urban AE, Koller D, Levinson DF. Mostafavi S, et al. Among authors: montgomery sb. Mol Psychiatry. 2014 Dec;19(12):1267-74. doi: 10.1038/mp.2013.161. Epub 2013 Dec 3. Mol Psychiatry. 2014. PMID: 24296977 Free PMC article.
206 results