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Page 1
Multisite validation of a simple electronic health record algorithm for identifying diagnosed obstructive sleep apnea.
Keenan BT, Kirchner HL, Veatch OJ, Borthwick KM, Davenport VA, Feemster JC, Gendy M, Gossard TR, Pack FM, Sirikulvadhana L, Teigen LN, Timm PC, Malow BA, Morgenthaler TI, Zee PC, Pack AI, Robishaw JD, Derose SF. Keenan BT, et al. Among authors: borthwick km. J Clin Sleep Med. 2020 Feb 15;16(2):175-183. doi: 10.5664/jcsm.8160. Epub 2020 Jan 13. J Clin Sleep Med. 2020. PMID: 31992429 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.
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.
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 study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers.
Mosley JD, Feng Q, Wells QS, Van Driest SL, Shaffer CM, Edwards TL, Bastarache L, Wei WQ, Davis LK, McCarty CA, Thompson W, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Verma SS, Karnes JH, Weiss ST, Wang TJ, Stein CM, Denny JC, Roden DM. Mosley JD, et al. Among authors: borthwick km. Nat Commun. 2018 Aug 30;9(1):3522. doi: 10.1038/s41467-018-05624-4. Nat Commun. 2018. PMID: 30166544 Free PMC article.
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.
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.
Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm.
Joo YY, Pacheco JA, Thompson WK, Rasmussen-Torvik LJ, Rasmussen LV, Lin FTJ, Andrade M, Borthwick KM, Bottinger E, Cagan A, Carrell DS, Denny JC, Ellis SB, Gottesman O, Linneman JG, Pathak J, Peissig PL, Shang N, Tromp G, Veerappan A, Smith ME, Chisholm RL, Gawron AJ, Hayes MG, Kho AN. Joo YY, et al. Among authors: borthwick km. PLoS One. 2023 May 17;18(5):e0283553. doi: 10.1371/journal.pone.0283553. eCollection 2023. PLoS One. 2023. PMID: 37196047 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 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: borthwick km. 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.
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