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Year Number of Results
2014 1
2015 4
2016 3
2017 1
2018 2
2019 2
2020 2
2022 1
2023 1
2024 1

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15 results

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Page 1
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.
Probing the Virtual Proteome to Identify Novel Disease Biomarkers.
Mosley JD, Benson MD, Smith JG, Melander O, Ngo D, Shaffer CM, Ferguson JF, Herzig MS, McCarty CA, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Kitchner TE, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Kiryluk K, Mentch FD, Sleiman PM, Karlson EW, Verma SS, Zhu Y, Vasan RS, Yang Q, Denny JC, Roden DM, Gerszten RE, Wang TJ. Mosley JD, et al. Among authors: borthwick km. Circulation. 2018 Nov 27;138(22):2469-2481. doi: 10.1161/CIRCULATIONAHA.118.036063. Circulation. 2018. PMID: 30571344 Free PMC article.
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology.
Mosley JD, Levinson RT, Farber-Eger E, Edwards TL, Hellwege JN, Hung AM, Giri A, Shuey MM, Shaffer CM, Shi M, Brittain EL, Chung WK, Kullo IJ, Arruda-Olson AM, Jarvik GP, Larson EB, Crosslin DR, Williams MS, Borthwick KM, Hakonarson H, Denny JC, Wang TJ, Stein CM, Roden DM, Wells QS. Mosley JD, et al. Among authors: borthwick km. Sci Rep. 2020 May 5;10(1):7561. doi: 10.1038/s41598-020-64525-z. Sci Rep. 2020. PMID: 32372017 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.
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.
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.
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.
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.
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.
15 results