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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D; EMBRACE; McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A; kConFab Investigators; James PA, Bruinsma F, Campbell IG; Australia Ovarian Cancer Study Group; Broeks A, Schmidt MK, Hogervorst FB; HEBON; Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guénel P, Truong T; GEMO Study Collaborators; Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, González-Neira A, Osorio A, Hoya Mde L, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson… See abstract for full author list ➔ Meeks HD, et al. Among authors: pylkas k. J Natl Cancer Inst. 2015 Nov 19;108(2):djv315. doi: 10.1093/jnci/djv315. Print 2016 Feb. J Natl Cancer Inst. 2015. PMID: 26586665 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.
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.
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
Tyrmi JS, Kaartokallio T, Lokki AI, Jääskeläinen T, Kortelainen E, Ruotsalainen S, Karjalainen J, Ripatti S, Kivioja A, Laisk T, Kettunen J, Pouta A, Kivinen K, Kajantie E, Heinonen S, Kere J, Laivuori H; FINNPEC Study Group, FinnGen Project, and the Estonian Biobank Research Team. Tyrmi JS, et al. JAMA Cardiol. 2023 Jul 1;8(7):674-683. doi: 10.1001/jamacardio.2023.1312. JAMA Cardiol. 2023. PMID: 37285119 Free PMC article.
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P; FinnGen; Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Sci Rep. 2023 Nov 30;13(1):21127. doi: 10.1038/s41598-023-47441-w. Sci Rep. 2023. PMID: 38036545 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
161 results