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Page 1
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.
Surakka I, Fritsche LG, Zhou W, Backman J, Kosmicki JA, Lu H, Brumpton B, Nielsen JB, Gabrielsen ME, Skogholt AH, Wolford B, Graham SE, Chen YE, Lee S, Kang HM, Langhammer A, Forsmo S, Åsvold BO, Styrkarsdottir U, Holm H, Gudbjartsson D, Stefansson K, Baras A; Regeneron Genetics Center; Abecasis GR, Hveem K, Willer CJ. Surakka I, et al. Among authors: graham se. Nat Commun. 2020 Oct 23;11(1):4093. doi: 10.1038/s41467-020-17315-0. Nat Commun. 2020. PMID: 33097703 Free PMC article.
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
Nielsen JB, Fritsche LG, Zhou W, Teslovich TM, Holmen OL, Gustafsson S, Gabrielsen ME, Schmidt EM, Beaumont R, Wolford BN, Lin M, Brummett CM, Preuss MH, Refsgaard L, Bottinger EP, Graham SE, Surakka I, Chu Y, Skogholt AH, Dalen H, Boyle AP, Oral H, Herron TJ, Kitzman J, Jalife J, Svendsen JH, Olesen MS, Njølstad I, Løchen ML, Baras A, Gottesman O, Marcketta A, O'Dushlaine C, Ritchie MD, Wilsgaard T, Loos RJF, Frayling TM, Boehnke M, Ingelsson E, Carey DJ, Dewey FE, Kang HM, Abecasis GR, Hveem K, Willer CJ. Nielsen JB, et al. Among authors: graham se. Am J Hum Genet. 2018 Jan 4;102(1):103-115. doi: 10.1016/j.ajhg.2017.12.003. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290336 Free PMC article.
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW, Graham SE, Herron TJ, McCarthy S, Schmidt EM, Sveinbjornsson G, Surakka I, Mathis MR, Yamazaki M, Crawford RD, Gabrielsen ME, Skogholt AH, Holmen OL, Lin M, Wolford BN, Dey R, Dalen H, Sulem P, Chung JH, Backman JD, Arnar DO, Thorsteinsdottir U, Baras A, O'Dushlaine C, Holst AG, Wen X, Hornsby W, Dewey FE, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang HM, Holm H, Kitzman J, Shavit JA, Jalife J, Brummett CM, Teslovich TM, Carey DJ, Gudbjartsson DF, Stefansson K, Abecasis GR, Hveem K, Willer CJ. Nielsen JB, et al. Among authors: graham se. Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30. Nat Genet. 2018. PMID: 30061737 Free PMC article.
Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosis.
Trenkwalder T, Nelson CP, Musameh MD, Mordi IR, Kessler T, Pellegrini C, Debiec R, Rheude T, Lazovic V, Zeng L, Martinsson A, Gustav Smith J, Gådin JR, Franco-Cereceda A, Eriksson P, Nielsen JB, Graham SE, Willer CJ, Hveem K, Kastrati A, Braund PS, Palmer CNA, Aracil A, Husser O, Koenig W, Schunkert H, Lang CC, Hengstenberg C, Samani NJ. Trenkwalder T, et al. Among authors: graham se. Int J Cardiol. 2019 Feb 1;276:212-217. doi: 10.1016/j.ijcard.2018.11.094. Epub 2018 Nov 17. Int J Cardiol. 2019. PMID: 30482443 Free PMC article.
Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.
Brumpton BM, Fritsche LG, Zheng J, Nielsen JB, Mannila M, Surakka I, Rasheed H, Vie GÅ, Graham SE, Gabrielsen ME, Laugsand LE, Aukrust P, Vatten LJ, Damås JK, Ueland T, Janszky I, Zwart JA, Van't Hooft FM, Seidah NG, Hveem K, Willer C, Smith GD, Åsvold BO; INVENT Consortium. Brumpton BM, et al. Among authors: graham se. Circ Genom Precis Med. 2019 Jan;12(1):e002335. doi: 10.1161/CIRCGEN.118.002335. Circ Genom Precis Med. 2019. PMID: 30645169 Free PMC article. No abstract available.
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
Graham SE, Nielsen JB, Zawistowski M, Zhou W, Fritsche LG, Gabrielsen ME, Skogholt AH, Surakka I, Hornsby WE, Fermin D, Larach DB, Kheterpal S, Brummett CM, Lee S, Kang HM, Abecasis GR, Romundstad S, Hallan S, Sampson MG, Hveem K, Willer CJ. Graham SE, et al. Nat Commun. 2019 Apr 23;10(1):1847. doi: 10.1038/s41467-019-09861-z. Nat Commun. 2019. PMID: 31015462 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G, Weinstock J, Zawistowski M, Nielsen JB, Chaker L, Medici M, Teumer A, Naitza S, Sanna S, Schultheiss UT, Cappola A, Karjalainen J, Kurki M, Oneka M, Taylor P, Fritsche LG, Graham SE, Wolford BN, Overton W, Rasheed H, Haug EB, Gabrielsen ME, Skogholt AH, Surakka I, Davey Smith G, Pandit A, Roychowdhury T, Hornsby WE, Jonasson JG, Senter L, Liyanarachchi S, Ringel MD, Xu L, Kiemeney LA, He H, Netea-Maier RT, Mayordomo JI, Plantinga TS, Hrafnkelsson J, Hjartarson H, Sturgis EM, Palotie A, Daly M, Citterio CE, Arvan P, Brummett CM, Boehnke M, de la Chapelle A, Stefansson K, Hveem K, Willer CJ, Åsvold BO. Zhou W, et al. Among authors: graham se. Nat Commun. 2020 Aug 7;11(1):3981. doi: 10.1038/s41467-020-17718-z. Nat Commun. 2020. PMID: 32769997 Free PMC article.
110 results