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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Denny JC, et al. Among authors: carroll rj. Nat Biotechnol. 2013 Dec;31(12):1102-10. doi: 10.1038/nbt.2749. Nat Biotechnol. 2013. PMID: 24270849 Free PMC article.
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.
Cronin RM, Field JR, Bradford Y, Shaffer CM, Carroll RJ, Mosley JD, Bastarache L, Edwards TL, Hebbring SJ, Lin S, Hindorff LA, Crane PK, Pendergrass SA, Ritchie MD, Crawford DC, Pathak J, Bielinski SJ, Carrell DS, Crosslin DR, Ledbetter DH, Carey DJ, Tromp G, Williams MS, Larson EB, Jarvik GP, Peissig PL, Brilliant MH, McCarty CA, Chute CG, Kullo IJ, Bottinger E, Chisholm R, Smith ME, Roden DM, Denny JC. Cronin RM, et al. Among authors: carroll rj. Front Genet. 2014 Aug 5;5:250. doi: 10.3389/fgene.2014.00250. eCollection 2014. Front Genet. 2014. PMID: 25177340 Free PMC article.
Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals.
Teixeira PL, Wei WQ, Cronin RM, Mo H, VanHouten JP, Carroll RJ, LaRose E, Bastarache LA, Rosenbloom ST, Edwards TL, Roden DM, Lasko TA, Dart RA, Nikolai AM, Peissig PL, Denny JC. Teixeira PL, et al. J Am Med Inform Assoc. 2017 Jan;24(1):162-171. doi: 10.1093/jamia/ocw071. Epub 2016 Aug 7. J Am Med Inform Assoc. 2017. PMID: 27497800 Free PMC article.
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Among authors: carroll r. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 Free PMC article.
A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments.
Pacheco JA, Rasmussen LV, Kiefer RC, Campion TR, Speltz P, Carroll RJ, Stallings SC, Mo H, Ahuja M, Jiang G, LaRose ER, Peissig PL, Shang N, Benoit B, Gainer VS, Borthwick K, Jackson KL, Sharma A, Wu AY, Kho AN, Roden DM, Pathak J, Denny JC, Thompson WK. Pacheco JA, et al. Among authors: carroll rj. J Am Med Inform Assoc. 2018 Nov 1;25(11):1540-1546. doi: 10.1093/jamia/ocy101. J Am Med Inform Assoc. 2018. PMID: 30124903 Free PMC article.
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Safarova MS, Satterfield BA, Fan X, Austin EE, Ye Z, Bastarache L, Zheng N, Ritchie MD, Borthwick KM, Williams MS, Larson EB, Scrol A, Jarvik GP, Crosslin DR, Leppig K, Rasmussen-Torvik LJ, Pendergrass SA, Sturm AC, Namjou B, Shah AS, Carroll RJ, Chung WK, Wei WQ, Feng Q, Stein CM, Roden DM, Manolio TA, Schaid DJ, Denny JC, Hebbring SJ, de Andrade M, Kullo IJ. Safarova MS, et al. Among authors: carroll rj. NPJ Genom Med. 2019 Feb 11;4:3. doi: 10.1038/s41525-019-0078-7. eCollection 2019. NPJ Genom Med. 2019. PMID: 30774981 Free PMC article.
2,027 results