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Page 1
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.
Hellwege JN, Stallings S, Torstenson ES, Carroll R, Borthwick KM, Brilliant MH, Crosslin D, Gordon A, Hripcsak G, Jarvik GP, Linneman JG, Devi P, Peissig PL, Sleiman PAM, Hakonarson H, Ritchie MD, Verma SS, Shang N, Denny JC, Roden DM, Velez Edwards DR, Edwards TL. Hellwege JN, et al. Among authors: borthwick km. Sci Rep. 2019 Apr 15;9(1):6077. doi: 10.1038/s41598-019-42427-z. Sci Rep. 2019. PMID: 30988330 Free PMC article.
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network. Gottesman O, et al. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Genet Med. 2013. PMID: 23743551 Free PMC article. Review.
Genetic variation in the HLA region is associated with susceptibility to herpes zoster.
Crosslin DR, Carrell DS, Burt A, Kim DS, Underwood JG, Hanna DS, Comstock BA, Baldwin E, de Andrade M, Kullo IJ, Tromp G, Kuivaniemi H, Borthwick KM, McCarty CA, Peissig PL, Doheny KF, Pugh E, Kho A, Pacheco J, Hayes MG, Ritchie MD, Verma SS, Armstrong G, Stallings S, Denny JC, Carroll RJ, Crawford DC, Crane PK, Mukherjee S, Bottinger E, Li R, Keating B, Mirel DB, Carlson CS, Harley JB, Larson EB, Jarvik GP. Crosslin DR, et al. Among authors: borthwick km. Genes Immun. 2015 Jan-Feb;16(1):1-7. doi: 10.1038/gene.2014.51. Epub 2014 Oct 9. Genes Immun. 2015. PMID: 25297839 Free PMC article.
A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough.
Mosley JD, Shaffer CM, Van Driest SL, Weeke PE, Wells QS, Karnes JH, Velez Edwards DR, Wei WQ, Teixeira PL, Bastarache L, Crawford DC, Li R, Manolio TA, Bottinger EP, McCarty CA, Linneman JG, Brilliant MH, Pacheco JA, Thompson W, Chisholm RL, Jarvik GP, Crosslin DR, Carrell DS, Baldwin E, Ralston J, Larson EB, Grafton J, Scrol A, Jouni H, Kullo IJ, Tromp G, Borthwick KM, Kuivaniemi H, Carey DJ, Ritchie MD, Bradford Y, Verma SS, Chute CG, Veluchamy A, Siddiqui MK, Palmer CN, Doney A, MahmoudPour SH, Maitland-van der Zee AH, Morris AD, Denny JC, Roden DM. Mosley JD, et al. Among authors: borthwick km. Pharmacogenomics J. 2016 Jun;16(3):231-7. doi: 10.1038/tpj.2015.51. Epub 2015 Jul 14. Pharmacogenomics J. 2016. PMID: 26169577 Free PMC article.
Desiderata for computable representations of electronic health records-driven phenotype algorithms.
Mo H, Thompson WK, Rasmussen LV, Pacheco JA, Jiang G, Kiefer R, Zhu Q, Xu J, Montague E, Carrell DS, Lingren T, Mentch FD, Ni Y, Wehbe FH, Peissig PL, Tromp G, Larson EB, Chute CG, Pathak J, Denny JC, Speltz P, Kho AN, Jarvik GP, Bejan CA, Williams MS, Borthwick K, Kitchner TE, Roden DM, Harris PA. Mo H, et al. J Am Med Inform Assoc. 2015 Nov;22(6):1220-30. doi: 10.1093/jamia/ocv112. Epub 2015 Sep 5. J Am Med Inform Assoc. 2015. PMID: 26342218 Free PMC article.
A GWAS Study on Liver Function Test Using eMERGE Network Participants.
Namjou B, Marsolo K, Lingren T, Ritchie MD, Verma SS, Cobb BL, Perry C, Kitchner TE, Brilliant MH, Peissig PL, Borthwick KM, Williams MS, Grafton J, Jarvik GP, Holm IA, Harley JB. Namjou B, et al. Among authors: borthwick km. PLoS One. 2015 Sep 28;10(9):e0138677. doi: 10.1371/journal.pone.0138677. eCollection 2015. PLoS One. 2015. PMID: 26413716 Free PMC article.
ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow.
Borthwick KM, Smelser DT, Bock JA, Elmore JR, Ryer EJ, Ye Z, Pacheco JA, Carrell DS, Michalkiewicz M, Thompson WK, Pathak J, Bielinski SJ, Denny JC, Linneman JG, Peissig PL, Kho AN, Gottesman O, Parmar H, Kullo IJ, McCarty CA, Böttinger EP, Larson EB, Jarvik GP, Harley JB, Bajwa T, Franklin DP, Carey DJ, Kuivaniemi H, Tromp G. Borthwick KM, et al. Int J Biomed Data Min. 2015 Dec;4(1):113. Epub 2015 Jul 30. Int J Biomed Data Min. 2015. PMID: 27054044 Free PMC article.
Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies.
Jackson KL, Mbagwu M, Pacheco JA, Baldridge AS, Viox DJ, Linneman JG, Shukla SK, Peissig PL, Borthwick KM, Carrell DA, Bielinski SJ, Kirby JC, Denny JC, Mentch FD, Vazquez LM, Rasmussen-Torvik LJ, Kho AN. Jackson KL, et al. Among authors: borthwick km. BMC Infect Dis. 2016 Nov 17;16(1):684. doi: 10.1186/s12879-016-2020-2. BMC Infect Dis. 2016. PMID: 27855652 Free PMC article.
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Jones GT, Tromp G, Kuivaniemi H, Gretarsdottir S, Baas AF, Giusti B, Strauss E, Van't Hof FN, Webb TR, Erdman R, Ritchie MD, Elmore JR, Verma A, Pendergrass S, Kullo IJ, Ye Z, Peissig PL, Gottesman O, Verma SS, Malinowski J, Rasmussen-Torvik LJ, Borthwick KM, Smelser DT, Crosslin DR, de Andrade M, Ryer EJ, McCarty CA, Böttinger EP, Pacheco JA, Crawford DC, Carrell DS, Gerhard GS, Franklin DP, Carey DJ, Phillips VL, Williams MJ, Wei W, Blair R, Hill AA, Vasudevan TM, Lewis DR, Thomson IA, Krysa J, Hill GB, Roake J, Merriman TR, Oszkinis G, Galora S, Saracini C, Abbate R, Pulli R, Pratesi C, Saratzis A, Verissimo AR, Bumpstead S, Badger SA, Clough RE, Cockerill G, Hafez H, Scott DJ, Futers TS, Romaine SP, Bridge K, Griffin KJ, Bailey MA, Smith A, Thompson MM, van Bockxmeer FM, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Lindholt JS, Hughes A, Bradley DT, Stirrups K, Golledge J, Norman PE, Powell JT, Humphries SE, Hamby SE, Goodall AH, Nelson CP, Sakalihasan N, Courtois A, Ferrell RE, Eriksson P, Folkersen L, Franco-Cereceda A, Eicher JD, Johnson AD, Betsholtz C, Ruusalepp A, Franzén O, Schadt EE, Björk… See abstract for full author list ➔ Jones GT, et al. Among authors: borthwick km. Circ Res. 2017 Jan 20;120(2):341-353. doi: 10.1161/CIRCRESAHA.116.308765. Epub 2016 Nov 29. Circ Res. 2017. PMID: 27899403 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. 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.
20 results