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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. Among authors: smith ks. 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.
Transcriptome analysis reveals differential splicing events in IPF lung tissue.
Nance T, Smith KS, Anaya V, Richardson R, Ho L, Pala M, Mostafavi S, Battle A, Feghali-Bostwick C, Rosen G, Montgomery SB. Nance T, et al. Among authors: smith ks. PLoS One. 2014 Mar 19;9(3):e92111. doi: 10.1371/journal.pone.0092111. eCollection 2014. PLoS One. 2014. PMID: 24647608 Free PMC article.
Allelic expression of deleterious protein-coding variants across human tissues.
Kukurba KR, Zhang R, Li X, Smith KS, Knowles DA, How Tan M, Piskol R, Lek M, Snyder M, Macarthur DG, Li JB, Montgomery SB. Kukurba KR, et al. Among authors: smith ks. PLoS Genet. 2014 May 1;10(5):e1004304. doi: 10.1371/journal.pgen.1004304. eCollection 2014 May. PLoS Genet. 2014. PMID: 24786518 Free PMC article.
Transcriptome analysis reveals differential splicing events in IPF lung tissue.
Nance T, Smith KS, Anaya V, Richardson R, Ho L, Pala M, Mostafavi S, Battle A, Feghali-Bostwick C, Rosen G, Montgomery SB. Nance T, et al. Among authors: smith ks. PLoS One. 2014 May 7;9(5):e97550. doi: 10.1371/journal.pone.0097550. eCollection 2014. PLoS One. 2014. PMID: 24805851 Free PMC article.
The landscape of genomic imprinting across diverse adult human tissues.
Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, Pirinen M, Gutierrez-Arcelus M, Smith KS, Kukurba KR, Zhang R, Eng C, Torgerson DG, Urbanek C; GTEx Consortium; Li JB, Rodriguez-Santana JR, Burchard EG, Seibold MA, MacArthur DG, Montgomery SB, Zaitlen NA, Lappalainen T. Baran Y, et al. Among authors: smith ks. Genome Res. 2015 Jul;25(7):927-36. doi: 10.1101/gr.192278.115. Epub 2015 May 7. Genome Res. 2015. PMID: 25953952 Free PMC article.
511 results