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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
PLoS Genet. 2015 Jan 27;11(1):e1004876. doi: 10.1371/journal.pgen.1004876. eCollection 2015 Jan.
PLoS Genet. 2015.
PMID: 25625282
Free PMC article.
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, Scott RA, Prokopenko I, Scott LJ, Green T, Sparso T, Thuillier D, Yengo L, Grallert H, Wahl S, Frånberg M, Strawbridge RJ, Kestler H, Chheda H, Eisele L, Gustafsson S, Steinthorsdottir V, Thorleifsson G, Qi L, Karssen LC, van Leeuwen EM, Willems SM, Li M, Chen H, Fuchsberger C, Kwan P, Ma C, Linderman M, Lu Y, Thomsen SK, Rundle JK, Beer NL, van de Bunt M, Chalisey A, Kang HM, Voight BF, Abecasis GR, Almgren P, Baldassarre D, Balkau B, Benediktsson R, Blüher M, Boeing H, Bonnycastle LL, Bottinger EP, Burtt NP, Carey J, Charpentier G, Chines PS, Cornelis MC, Couper DJ, Crenshaw AT, van Dam RM, Doney AS, Dorkhan M, Edkins S, Eriksson JG, Esko T, Eury E, Fadista J, Flannick J, Fontanillas P, Fox C, Franks PW, Gertow K, Gieger C, Gigante B, Gottesman O, Grant GB, Grarup N, Groves CJ, Hassinen M, Have CT, Herder C, Holmen OL, Hreidarsson AB, Humphries SE, Hunter DJ, Jackson AU, Jonsson A, Jørgensen ME, Jørgensen T, Kao WH, Kerrison ND, Kinnunen L, Klopp N, Kong A, Kovacs P, Kraft P, Kravic J, Langford C, Leander K, Liang L, Lichtner P, Lindgren CM, Lindholm E, Linneberg A, …
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Gaulton KJ, et al. Among authors: rundle jk.
Nat Genet. 2015 Dec;47(12):1415-25. doi: 10.1038/ng.3437. Epub 2015 Nov 9.
Nat Genet. 2015.
PMID: 26551672
Free PMC article.
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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL.
Beer NL, et al. Among authors: rundle jk.
Diabetes Care. 2012 Jul;35(7):1482-4. doi: 10.2337/dc11-2420. Epub 2012 May 18.
Diabetes Care. 2012.
PMID: 22611063
Free PMC article.
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Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL.
Althari S, et al. Among authors: rundle jk.
Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9.
Am J Hum Genet. 2020.
PMID: 32910913
Free PMC article.
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Indirect macrophage responses to ionizing radiation: implications for genotype-dependent bystander signaling.
Coates PJ, Rundle JK, Lorimore SA, Wright EG.
Coates PJ, et al. Among authors: rundle jk.
Cancer Res. 2008 Jan 15;68(2):450-6. doi: 10.1158/0008-5472.CAN-07-3050.
Cancer Res. 2008.
PMID: 18199539
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