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Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.
Benaglio P, D'Antonio-Chronowska A, Ma W, Yang F, Young Greenwald WW, Donovan MKR, DeBoever C, Li H, Drees F, Singhal S, Matsui H, van Setten J, Sotoodehnia N, Gaulton KJ, Smith EN, D'Antonio M, Rosenfeld MG, Frazer KA. Benaglio P, et al. Among authors: smith en. Nat Genet. 2019 Oct;51(10):1506-1517. doi: 10.1038/s41588-019-0499-3. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570892 Free PMC article.
Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.
Solomon T, Smith EN, Matsui H, Braekkan SK; INVENT Consortium; Wilsgaard T, Njølstad I, Mathiesen EB, Hansen JB, Frazer KA. Solomon T, et al. Among authors: smith en. Circ Cardiovasc Genet. 2016 Aug;9(4):375-83. doi: 10.1161/CIRCGENETICS.115.001327. Epub 2016 Jun 21. Circ Cardiovasc Genet. 2016. PMID: 27329291 Free PMC article.
Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.
DeBoever C, Li H, Jakubosky D, Benaglio P, Reyna J, Olson KM, Huang H, Biggs W, Sandoval E, D'Antonio M, Jepsen K, Matsui H, Arias A, Ren B, Nariai N, Smith EN, D'Antonio-Chronowska A, Farley EK, Frazer KA. DeBoever C, et al. Among authors: smith en. Cell Stem Cell. 2017 Apr 6;20(4):533-546.e7. doi: 10.1016/j.stem.2017.03.009. Cell Stem Cell. 2017. PMID: 28388430 Free PMC article.
Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories.
D'Antonio-Chronowska A, Donovan MKR, Young Greenwald WW, Nguyen JP, Fujita K, Hashem S, Matsui H, Soncin F, Parast M, Ward MC, Coulet F, Smith EN, Adler E, D'Antonio M, Frazer KA. D'Antonio-Chronowska A, et al. Among authors: smith en. Stem Cell Reports. 2019 Nov 12;13(5):924-938. doi: 10.1016/j.stemcr.2019.09.011. Epub 2019 Oct 24. Stem Cell Reports. 2019. PMID: 31668852 Free PMC article.
Properties of structural variants and short tandem repeats associated with gene expression and complex traits.
Jakubosky D, D'Antonio M, Bonder MJ, Smail C, Donovan MKR, Young Greenwald WW, Matsui H; i2QTL Consortium; D'Antonio-Chronowska A, Stegle O, Smith EN, Montgomery SB, DeBoever C, Frazer KA. Jakubosky D, et al. Among authors: smith en. Nat Commun. 2020 Jun 10;11(1):2927. doi: 10.1038/s41467-020-16482-4. Nat Commun. 2020. PMID: 32522982 Free PMC article.
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Bonder MJ, et al. Among authors: smith en. Nat Genet. 2021 Mar;53(3):313-321. doi: 10.1038/s41588-021-00800-7. Epub 2021 Mar 4. Nat Genet. 2021. PMID: 33664507 Free PMC article.
Aberrant DNA Methylation in Human iPSCs Associates with MYC-Binding Motifs in a Clone-Specific Manner Independent of Genetics.
Panopoulos AD, Smith EN, Arias AD, Shepard PJ, Hishida Y, Modesto V, Diffenderfer KE, Conner C, Biggs W, Sandoval E, D'Antonio-Chronowska A, Berggren WT, Izpisua Belmonte JC, Frazer KA. Panopoulos AD, et al. Among authors: smith en. Cell Stem Cell. 2017 Apr 6;20(4):505-517.e6. doi: 10.1016/j.stem.2017.03.010. Cell Stem Cell. 2017. PMID: 28388429 Free PMC article.
248 results