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Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen.
Rodosthenous RS, Niemi MEK, Kallio L, Perala M, Terho P, Knopp T, Punkka E, Makkonen EM, Nurmi P, Makela J, Wihuri P, Hautalahti M, Moffatt C, Martini P, Germine L, Makela VA, Karhunen OA, Lahti J, Hiekkalinna TS, Jyrhama T, Shen HY, Runz H, Palotie A, Perola M, Ganna A; FinnGen. Rodosthenous RS, et al. Among authors: hautalahti m. BMJ Open. 2022 Oct 5;12(10):e064695. doi: 10.1136/bmjopen-2022-064695. BMJ Open. 2022. PMID: 36198465 Free PMC article.
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.
Ruotsalainen SE, Surakka I, Mars N, Karjalainen J, Kurki M, Kanai M, Krebs K, Graham S, Mishra PP, Mishra BH, Sinisalo J, Palta P, Lehtimäki T, Raitakari O; Estonian Biobank Research Team; Milani L; Biobank Japan Project; Okada Y; FinnGen; Palotie A, Widen E, Daly MJ, Ripatti S. Ruotsalainen SE, et al. Commun Biol. 2022 Aug 17;5(1):802. doi: 10.1038/s42003-022-03552-0. Commun Biol. 2022. PMID: 35978133 Free PMC article.
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0. Epub 2021 Jun 7. Nat Med. 2021. PMID: 34099924 Free PMC article.
An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M, Wihuri P, Mäkelä J, Kallionpää RE, Makkonen E, Knopp T, Mannermaa A, Mäkinen E, Moilanen AM, Tezel TH; SCOPE Study group; Waheed NK. Jones AV, et al. Among authors: hautalahti m. PLoS One. 2022 Sep 6;17(9):e0272260. doi: 10.1371/journal.pone.0272260. eCollection 2022. PLoS One. 2022. PMID: 36067162 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.
20 results