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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: smith ks. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 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.
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: smith ks. 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.
490 results