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Page 1
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland HT, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J; eMERGE Network; Denny J, Wei WQ, George AL Jr, Shoemaker MB, Roden DM. Glazer AM, et al. Among authors: pacheco ja. Circulation. 2022 Mar 22;145(12):877-891. doi: 10.1161/CIRCULATIONAHA.121.055562. Epub 2021 Dec 21. Circulation. 2022. PMID: 34930020 Free PMC article.
Electronic medical records for genetic research: results of the eMERGE consortium.
Kho AN, Pacheco JA, Peissig PL, Rasmussen L, Newton KM, Weston N, Crane PK, Pathak J, Chute CG, Bielinski SJ, Kullo IJ, Li R, Manolio TA, Chisholm RL, Denny JC. Kho AN, et al. Among authors: pacheco ja. Sci Transl Med. 2011 Apr 20;3(79):79re1. doi: 10.1126/scitranslmed.3001807. Sci Transl Med. 2011. PMID: 21508311 Free PMC article.
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
Denny JC, Crawford DC, Ritchie MD, Bielinski SJ, Basford MA, Bradford Y, Chai HS, Bastarache L, Zuvich R, Peissig P, Carrell D, Ramirez AH, Pathak J, Wilke RA, Rasmussen L, Wang X, Pacheco JA, Kho AN, Hayes MG, Weston N, Matsumoto M, Kopp PA, Newton KM, Jarvik GP, Li R, Manolio TA, Kullo IJ, Chute CG, Chisholm RL, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M. Denny JC, et al. Among authors: pacheco ja. Am J Hum Genet. 2011 Oct 7;89(4):529-42. doi: 10.1016/j.ajhg.2011.09.008. Am J Hum Genet. 2011. PMID: 21981779 Free PMC article.
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.
Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK, Armstrong LL, Denny JC, Peissig PL, Miller AW, Wei WQ, Bielinski SJ, Chute CG, Leibson CL, Jarvik GP, Crosslin DR, Carlson CS, Newton KM, Wolf WA, Chisholm RL, Lowe WL. Kho AN, et al. Among authors: pacheco ja. J Am Med Inform Assoc. 2012 Mar-Apr;19(2):212-8. doi: 10.1136/amiajnl-2011-000439. Epub 2011 Nov 19. J Am Med Inform Assoc. 2012. PMID: 22101970 Free PMC article.
High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.
Rasmussen-Torvik LJ, Pacheco JA, Wilke RA, Thompson WK, Ritchie MD, Kho AN, Muthalagu A, Hayes MG, Armstrong LL, Scheftner DA, Wilkins JT, Zuvich RL, Crosslin D, Roden DM, Denny JC, Jarvik GP, Carlson CS, Kullo IJ, Bielinski SJ, McCarty CA, Li R, Manolio TA, Crawford DC, Chisholm RL. Rasmussen-Torvik LJ, et al. Among authors: pacheco ja. Clin Transl Sci. 2012 Oct;5(5):394-9. doi: 10.1111/j.1752-8062.2012.00446.x. Epub 2012 Aug 23. Clin Transl Sci. 2012. PMID: 23067351 Free PMC article.
Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network.
Newton KM, Peissig PL, Kho AN, Bielinski SJ, Berg RL, Choudhary V, Basford M, Chute CG, Kullo IJ, Li R, Pacheco JA, Rasmussen LV, Spangler L, Denny JC. Newton KM, et al. Among authors: pacheco ja. J Am Med Inform Assoc. 2013 Jun;20(e1):e147-54. doi: 10.1136/amiajnl-2012-000896. Epub 2013 Mar 26. J Am Med Inform Assoc. 2013. PMID: 23531748 Free PMC article.
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
Jeff JM, Ritchie MD, Denny JC, Kho AN, Ramirez AH, Crosslin D, Armstrong L, Basford MA, Wolf WA, Pacheco JA, Chisholm RL, Roden DM, Hayes MG, Crawford DC. Jeff JM, et al. Among authors: pacheco ja. Ann Hum Genet. 2013 Jul;77(4):321-32. doi: 10.1111/ahg.12023. Epub 2013 Mar 28. Ann Hum Genet. 2013. PMID: 23534349 Free PMC article.
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Shameer K, Denny JC, Ding K, Jouni H, Crosslin DR, de Andrade M, Chute CG, Peissig P, Pacheco JA, Li R, Bastarache L, Kho AN, Ritchie MD, Masys DR, Chisholm RL, Larson EB, McCarty CA, Roden DM, Jarvik GP, Kullo IJ. Shameer K, et al. Among authors: pacheco ja. Hum Genet. 2014 Jan;133(1):95-109. doi: 10.1007/s00439-013-1355-7. Epub 2013 Sep 12. Hum Genet. 2014. PMID: 24026423 Free PMC article.
142 results