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A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. Richer J, et al. Among authors: brummett cm. Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. Arterioscler Thromb Vasc Biol. 2020. PMID: 32938213 Free PMC article.
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.
Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ. Yang B, et al. Among authors: brummett cm. Nat Commun. 2017 May 25;8:15481. doi: 10.1038/ncomms15481. Nat Commun. 2017. PMID: 28541271 Free PMC article.
Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A, Thorleifsson G, Gretarsdottir S, Stefansson OA, Tragante V, Thorolfsdottir RB, Jonsdottir I, Bjornsson T, Steinthorsdottir V, Verweij N, Nielsen JB, Zhou W, Folkersen L, Martinsson A, Heydarpour M, Prakash S, Oskarsson G, Gudbjartsson T, Geirsson A, Olafsson I, Sigurdsson EL, Almgren P, Melander O, Franco-Cereceda A, Hamsten A, Fritsche L, Lin M, Yang B, Hornsby W, Guo D, Brummett CM, Abecasis G, Mathis M, Milewicz D, Body SC, Eriksson P, Willer CJ, Hveem K, Newton-Cheh C, Smith JG, Danielsen R, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Helgadottir A, et al. Among authors: brummett cm. Nat Commun. 2018 Mar 7;9(1):987. doi: 10.1038/s41467-018-03252-6. Nat Commun. 2018. PMID: 29511194 Free PMC article.
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.
Fritsche LG, Gruber SB, Wu Z, Schmidt EM, Zawistowski M, Moser SE, Blanc VM, Brummett CM, Kheterpal S, Abecasis GR, Mukherjee B. Fritsche LG, et al. Among authors: brummett cm. Am J Hum Genet. 2018 Jun 7;102(6):1048-1061. doi: 10.1016/j.ajhg.2018.04.001. Epub 2018 May 17. Am J Hum Genet. 2018. PMID: 29779563 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: brummett cm. 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.
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. Among authors: brummett cm. Nat Commun. 2019 Apr 23;10(1):1847. doi: 10.1038/s41467-019-09861-z. Nat Commun. 2019. PMID: 31015462 Free PMC article.
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.
Fritsche LG, Beesley LJ, VandeHaar P, Peng RB, Salvatore M, Zawistowski M, Gagliano Taliun SA, Das S, LeFaive J, Kaleba EO, Klumpner TT, Moser SE, Blanc VM, Brummett CM, Kheterpal S, Abecasis GR, Gruber SB, Mukherjee B. Fritsche LG, et al. Among authors: brummett cm. PLoS Genet. 2019 Jun 13;15(6):e1008202. doi: 10.1371/journal.pgen.1008202. eCollection 2019 Jun. PLoS Genet. 2019. PMID: 31194742 Free PMC article.
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford BN, Hornsby WE, Guo D, Zhou W, Lin M, Farhat L, McNamara J, Driscoll A, Wu X, Schmidt EM, Norton EL, Mathis MR, Ganesh SK, Douville NJ, Brummett CM, Kitzman J, Chen YE, Kim K, Deeb GM, Patel H, Eagle KA, Milewicz DM, J Willer C, Yang B. Wolford BN, et al. Among authors: brummett cm. Circ Genom Precis Med. 2019 Jun;12(6):e002476. doi: 10.1161/CIRCGEN.118.002476. Epub 2019 Jun 18. Circ Genom Precis Med. 2019. PMID: 31211624 Free PMC article.
Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test.
Dutta D, Gagliano Taliun SA, Weinstock JS, Zawistowski M, Sidore C, Fritsche LG, Cucca F, Schlessinger D, Abecasis GR, Brummett CM, Lee S. Dutta D, et al. Among authors: brummett cm. Genet Epidemiol. 2019 Oct;43(7):800-814. doi: 10.1002/gepi.22248. Epub 2019 Aug 21. Genet Epidemiol. 2019. PMID: 31433078 Free PMC article.
293 results