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Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Perez JI, Benitez J, Anton-Culver H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C; GENICA Network; Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Invest… See abstract for full author list ➔ French JD, et al. Among authors: pylkas k. Am J Hum Genet. 2013 Apr 4;92(4):489-503. doi: 10.1016/j.ajhg.2013.01.002. Epub 2013 Mar 27. Am J Hum Genet. 2013. PMID: 23540573 Free PMC article.
Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry).
Viippola E, Kuitunen S, Rodosthenous RS, Vabalas A, Hartonen T, Vartiainen P, Demmler J, Vuorinen AL, Liu A, Havulinna AS, Llorens V, Detrois KE, Wang F, Ferro M, Karvanen A, German J, Jukarainen S, Gracia-Tabuenca J, Hiekkalinna T, Koskelainen S, Kiiskinen T, Lahtela E, Lemmelä S, Paajanen T, Siirtola H, Reeve MP, Kristiansson K, Brunfeldt M, Aavikko M, Gen F, Perola M, Ganna A; FinnGen. Viippola E, et al. Int J Epidemiol. 2023 Aug 2;52(4):e195-e200. doi: 10.1093/ije/dyad091. Int J Epidemiol. 2023. PMID: 37365732 Free PMC article. No abstract available.
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS; FinnGen; Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ. Ollila HM, et al. Nat Commun. 2023 May 15;14(1):2709. doi: 10.1038/s41467-023-36120-z. Nat Commun. 2023. PMID: 37188663 Free PMC article.
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: pylkas k. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199
A FinnGen pilot clinical recall study for Alzheimer's disease.
Julkunen V, Schwarz C, Kalapudas J, Hallikainen M, Piironen AK, Mannermaa A, Kujala H, Laitinen T, Kosma VM, Paajanen TI, Kälviäinen R, Hiltunen M, Herukka SK, Kärkkäinen S, Kokkola T, Urjansson M; FinnGen; Perola M, Palotie A, Vuoksimaa E, Runz H. Julkunen V, et al. Sci Rep. 2023 Aug 3;13(1):12641. doi: 10.1038/s41598-023-39835-7. Sci Rep. 2023. PMID: 37537264 Free PMC article.
161 results