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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.
Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network; Crosslin DR. Stanaway IB, et al. Among authors: linder j. Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8. Genet Epidemiol. 2019. PMID: 30298529 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
The Role of Electronic Health Records in Advancing Genomic Medicine.
Linder JE, Bastarache L, Hughey JJ, Peterson JF. Linder JE, et al. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:219-238. doi: 10.1146/annurev-genom-121120-125204. Epub 2021 May 26. Annu Rev Genomics Hum Genet. 2021. PMID: 34038146 Free PMC article. Review.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Con… See abstract for full author list ➔ Linder JE, et al. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
Pacheco JA, Rasmussen LV, Wiley K Jr, Person TN, Cronkite DJ, Sohn S, Murphy S, Gundelach JH, Gainer V, Castro VM, Liu C, Mentch F, Lingren T, Sundaresan AS, Eickelberg G, Willis V, Furmanchuk A, Patel R, Carrell DS, Deng Y, Walton N, Satterfield BA, Kullo IJ, Dikilitas O, Smith JC, Peterson JF, Shang N, Kiryluk K, Ni Y, Li Y, Nadkarni GN, Rosenthal EA, Walunas TL, Williams MS, Karlson EW, Linder JE, Luo Y, Weng C, Wei W. Pacheco JA, et al. Among authors: linder je. Sci Rep. 2023 Feb 3;13(1):1971. doi: 10.1038/s41598-023-27481-y. Sci Rep. 2023. PMID: 36737471 Free PMC article.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kochan DC, Anderson KC, Chung WK, Hebbring SJ, Salvati ZM, Sharp RR, Sturm AC, Gibbs RA, Rowley R, Venner E, Linder JE, Jones LK, Perez EF, Peterson JF, Jarvik GP, Rehm HL, Zouk H, Roden DM, Williams MS, Manolio TA, Kullo IJ. Dikilitas O, et al. Among authors: linder je. Circ Genom Precis Med. 2023 Apr;16(2):e003816. doi: 10.1161/CIRCGEN.122.003816. Epub 2023 Feb 22. Circ Genom Precis Med. 2023. PMID: 37071725 Free PMC article.
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E. Lennon NJ, et al. Among authors: linder je. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. PMID: 37333246 Free PMC article. Updated. Preprint.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Linder JE, Tao R, Chung WK, Kiryluk K, Liu C, Weng C, Connolly JJ, Hakonarson H, Harr M, Leppig KA, Jarvik GP, Veenstra DL, Aufox S, Chisholm RL, Gordon AS, Hoell C, Rasmussen-Torvik LJ, Smith ME, Holm IA, Miller EM, Prows CA, Elskeally O, Kullo IJ, Lee C, Jose S, Manolio TA, Rowley R, Padi-Adjirackor NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF. Linder JE, et al. Am J Hum Genet. 2023 Nov 2;110(11):1950-1958. doi: 10.1016/j.ajhg.2023.10.006. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883979
748 results