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Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium; Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET. Lappalainen T, et al. Among authors: pulyakhina i. Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15. Nature. 2013. PMID: 24037378 Free PMC article.
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
't Hoen PA, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brännvall M; GEUVADIS Consortium; den Dunnen JT, van Ommen GJ, Gut IG, Guigó R, Estivill X, Syvänen AC, Dermitzakis ET, Lappalainen T. 't Hoen PA, et al. Among authors: pulyakhina i. Nat Biotechnol. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15. Nat Biotechnol. 2013. PMID: 24037425
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium; Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Rivas MA, et al. Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877. Science. 2015. PMID: 25954003 Free PMC article.
Non-sequential and multi-step splicing of the dystrophin transcript.
Gazzoli I, Pulyakhina I, Verwey NE, Ariyurek Y, Laros JF, 't Hoen PA, Aartsma-Rus A. Gazzoli I, et al. Among authors: pulyakhina i. RNA Biol. 2016;13(3):290-305. doi: 10.1080/15476286.2015.1125074. Epub 2015 Dec 15. RNA Biol. 2016. PMID: 26670121 Free PMC article.
Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage.
den Hollander W, Pulyakhina I, Boer C, Bomer N, van der Breggen R, Arindrarto W, Couthino de Almeida R, Lakenberg N, Sentner T, Laros JFJ, 't Hoen PAC, Slagboom EPE, Nelissen RGHH, van Meurs J, Ramos YFM, Meulenbelt I. den Hollander W, et al. Among authors: pulyakhina i. Arthritis Rheumatol. 2019 Apr;71(4):561-570. doi: 10.1002/art.40748. Epub 2019 Feb 23. Arthritis Rheumatol. 2019. PMID: 30298554 Free PMC article.
Unique transcriptome signatures and GM-CSF expression in lymphocytes from patients with spondyloarthritis.
Al-Mossawi MH, Chen L, Fang H, Ridley A, de Wit J, Yager N, Hammitzsch A, Pulyakhina I, Fairfax BP, Simone D, Yi Y, Bandyopadhyay S, Doig K, Gundle R, Kendrick B, Powrie F, Knight JC, Bowness P. Al-Mossawi MH, et al. Among authors: pulyakhina i. Nat Commun. 2017 Nov 15;8(1):1510. doi: 10.1038/s41467-017-01771-2. Nat Commun. 2017. PMID: 29142230 Free PMC article.
12 results