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Page 1
Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures.
Örd T, Lönnberg T, Nurminen V, Ravindran A, Niskanen H, Kiema M, Õunap K, Maria M, Moreau PR, Mishra PP, Palani S, Virta J, Liljenbäck H, Aavik E, Roivainen A, Ylä-Herttuala S, Laakkonen JP, Lehtimäki T, Kaikkonen MU. Örd T, et al. Among authors: ounap k. Am J Hum Genet. 2023 May 4;110(5):722-740. doi: 10.1016/j.ajhg.2023.03.013. Epub 2023 Apr 14. Am J Hum Genet. 2023. PMID: 37060905 Free PMC article.
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits.
Stolze LK, Conklin AC, Whalen MB, López Rodríguez M, Õunap K, Selvarajan I, Toropainen A, Örd T, Li J, Eshghi A, Solomon AE, Fang Y, Kaikkonen MU, Romanoski CE. Stolze LK, et al. Among authors: ounap k. Am J Hum Genet. 2020 Jun 4;106(6):748-763. doi: 10.1016/j.ajhg.2020.04.008. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442411 Free PMC article.
Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease.
Selvarajan I, Toropainen A, Garske KM, López Rodríguez M, Ko A, Miao Z, Kaminska D, Õunap K, Örd T, Ravindran A, Liu OH, Moreau PR, Jawahar Deen A, Männistö V, Pan C, Levonen AL, Lusis AJ, Heikkinen S, Romanoski CE, Pihlajamäki J, Pajukanta P, Kaikkonen MU. Selvarajan I, et al. Among authors: ounap k. Am J Hum Genet. 2021 Mar 4;108(3):411-430. doi: 10.1016/j.ajhg.2021.02.006. Epub 2021 Feb 23. Am J Hum Genet. 2021. PMID: 33626337 Free PMC article.
Profiling of Primary and Mature miRNA Expression in Atherosclerosis-Associated Cell Types.
Moreau PR, Tomas Bosch V, Bouvy-Liivrand M, Õunap K, Örd T, Pulkkinen HH, Pölönen P, Heinäniemi M, Ylä-Herttuala S, Laakkonen JP, Linna-Kuosmanen S, Kaikkonen MU. Moreau PR, et al. Among authors: ounap k. Arterioscler Thromb Vasc Biol. 2021 Jul;41(7):2149-2167. doi: 10.1161/ATVBAHA.121.315579. Epub 2021 May 13. Arterioscler Thromb Vasc Biol. 2021. PMID: 33980036 Free PMC article.
Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci.
Örd T, Õunap K, Stolze LK, Aherrahrou R, Nurminen V, Toropainen A, Selvarajan I, Lönnberg T, Aavik E, Ylä-Herttuala S, Civelek M, Romanoski CE, Kaikkonen MU. Örd T, et al. Among authors: ounap k. Circ Res. 2021 Jul 9;129(2):240-258. doi: 10.1161/CIRCRESAHA.121.318971. Epub 2021 May 24. Circ Res. 2021. PMID: 34024118 Free PMC article.
Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro.
Selvarajan I, Kiema M, Huang RT, Li J, Zhu J, Pölönen P, Örd T, Õunap K, Godiwala M, Golebiewski AK, Ravindran A, Mäklin K, Toropainen A, Stolze LK, Arce M, Magnusson PU, White S, Romanoski CE, Heinäniemi M, Laakkonen JP, Fang Y, Kaikkonen-Määttä M. Selvarajan I, et al. Among authors: ounap k. Arterioscler Thromb Vasc Biol. 2024 Apr 11. doi: 10.1161/ATVBAHA.123.318964. Online ahead of print. Arterioscler Thromb Vasc Biol. 2024. PMID: 38602103 Free article.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: ounap k. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: ounap k. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Bönnemann CG, Donkervoort S, Haliloğlu G, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. Among authors: ounap k. medRxiv [Preprint]. 2024 Feb 27:2024.02.11.24302646. doi: 10.1101/2024.02.11.24302646. medRxiv. 2024. PMID: 38405995 Free PMC article. Preprint.
196 results