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Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium. Liuska PJ, et al. Among authors: daly mj. JAMA Ophthalmol. 2021 Jul 1;139(7):762-768. doi: 10.1001/jamaophthalmol.2021.1610. JAMA Ophthalmol. 2021. PMID: 34081096 Free PMC article.
Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.
Rioux JD, Karinen H, Kocher K, McMahon SG, Kärkkäinen P, Janatuinen E, Heikkinen M, Julkunen R, Pihlajamäki J, Naukkarinen A, Kosma VM, Daly MJ, Lander ES, Laakso M. Rioux JD, et al. Among authors: daly mj. Am J Med Genet A. 2004 Nov 1;130A(4):345-50. doi: 10.1002/ajmg.a.30072. Am J Med Genet A. 2004. PMID: 15386476
The genome-wide patterns of variation expose significant substructure in a founder population.
Jakkula E, Rehnström K, Varilo T, Pietiläinen OP, Paunio T, Pedersen NL, deFaire U, Järvelin MR, Saharinen J, Freimer N, Ripatti S, Purcell S, Collins A, Daly MJ, Palotie A, Peltonen L. Jakkula E, et al. Among authors: daly mj. Am J Hum Genet. 2008 Dec;83(6):787-94. doi: 10.1016/j.ajhg.2008.11.005. Am J Hum Genet. 2008. PMID: 19061986 Free PMC article.
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
Kallio SP, Jakkula E, Purcell S, Suvela M, Koivisto K, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Bronnikov D, Viander M, Meri S, Hillert J, Lundmark F, Harbo HF, Lorentzen AR, De Jager PL, Daly MJ, Hafler DA, Palotie A, Peltonen L, Saarela J. Kallio SP, et al. Among authors: daly mj. Hum Mol Genet. 2009 May 1;18(9):1670-83. doi: 10.1093/hmg/ddp073. Epub 2009 Feb 16. Hum Mol Genet. 2009. PMID: 19221116 Free PMC article.
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.
Stoll G, Pietiläinen OPH, Linder B, Suvisaari J, Brosi C, Hennah W, Leppä V, Torniainen M, Ripatti S, Ala-Mello S, Plöttner O, Rehnström K, Tuulio-Henriksson A, Varilo T, Tallila J, Kristiansson K, Isohanni M, Kaprio J, Eriksson JG, Raitakari OT, Lehtimäki T, Jarvelin MR, Salomaa V, Hurles M, Stefansson H, Peltonen L, Sullivan PF, Paunio T, Lönnqvist J, Daly MJ, Fischer U, Freimer NB, Palotie A. Stoll G, et al. Among authors: daly mj. Nat Neurosci. 2013 Sep;16(9):1228-1237. doi: 10.1038/nn.3484. Epub 2013 Aug 4. Nat Neurosci. 2013. PMID: 23912948 Free PMC article.
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project. Lim ET, et al. Among authors: daly mj. PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25078778 Free PMC article.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ganna A, et al. Among authors: daly mj. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694993 Free PMC article.
Fine-Scale Genetic Structure in Finland.
Kerminen S, Havulinna AS, Hellenthal G, Martin AR, Sarin AP, Perola M, Palotie A, Salomaa V, Daly MJ, Ripatti S, Pirinen M. Kerminen S, et al. Among authors: daly mj. G3 (Bethesda). 2017 Oct 5;7(10):3459-3468. doi: 10.1534/g3.117.300217. G3 (Bethesda). 2017. PMID: 28983069 Free PMC article.
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
Martin AR, Karczewski KJ, Kerminen S, Kurki MI, Sarin AP, Artomov M, Eriksson JG, Esko T, Genovese G, Havulinna AS, Kaprio J, Konradi A, Korányi L, Kostareva A, Männikkö M, Metspalu A, Perola M, Prasad RB, Raitakari O, Rotar O, Salomaa V, Groop L, Palotie A, Neale BM, Ripatti S, Pirinen M, Daly MJ. Martin AR, et al. Among authors: daly mj. Am J Hum Genet. 2018 May 3;102(5):760-775. doi: 10.1016/j.ajhg.2018.03.003. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706349 Free PMC article.
942 results