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Page 1
Current Limitations of Electronic Health Record Systems in Supporting Pragmatic Clinical Trials: Insights from the eMERGE Consortium.
Wagholikar KB, Pacheco JA, Gordon AS, Khan A, Khales BN, Benoit B, Kerman BJ, Weng C, Ta C, Prows CA, Johnson R, Roden DM, Crosslin D, McNally EM, Karlson EW, Mentch F, Jarvik GP, Wiesner GL, Hakonarson H, Cimino JJ, Thayer JG, Smoller JW, Linder JE, Connolly J, Peterson JF, Cortopassi J, Kiryluk K, Hamed M, Maradik M, Puckelwartz MJ, Naderian M, Walton N, Limdi N, Maripuri DP, Walunas T, Gainer V, Luo Y, Liu C, Kenny EE, Espinoza A, Rowley R, Wei WQ, Murphy SN. Wagholikar KB, et al. Among authors: karlson ew. medRxiv [Preprint]. 2025 Apr 3:2025.04.01.25325049. doi: 10.1101/2025.04.01.25325049. medRxiv. 2025. PMID: 40236425 Free PMC article. Preprint.
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: karlson ew. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. Update in: Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. PMID: 37333246 Free PMC article. Updated. Preprint.
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE. Lennon NJ, et al. Among authors: karlson ew. Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19. Nat Med. 2024. PMID: 38374346 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.
Risk factors affecting polygenic score performance across diverse cohorts.
Hui D, Dudek S, Kiryluk K, Walunas TL, Kullo IJ, Wei WQ, Tiwari HK, Peterson JF, Chung WK, Davis B, Khan A, Kottyan L, Limdi NA, Feng Q, Puckelwartz MJ, Weng C, Smith JL, Karlson EW; Regeneron Genetics Center; Jarvik GP, Ritchie MD. Hui D, et al. Among authors: karlson ew. medRxiv [Preprint]. 2024 Apr 10:2023.05.10.23289777. doi: 10.1101/2023.05.10.23289777. medRxiv. 2024. Update in: Elife. 2025 Jan 24;12:RP88149. doi: 10.7554/eLife.88149. PMID: 38645167 Free PMC article. Updated. Preprint.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM. Lewis ACF, et al. Am J Hum Genet. 2024 Jun 6;111(6):999-1005. doi: 10.1016/j.ajhg.2024.04.005. Epub 2024 Apr 29. Am J Hum Genet. 2024. PMID: 38688278 Free PMC article. Review.
Risk factors affecting polygenic score performance across diverse cohorts.
Hui D, Dudek S, Kiryluk K, Walunas TL, Kullo IJ, Wei WQ, Tiwari H, Peterson JF, Chung WK, Davis BH, Khan A, Kottyan LC, Limdi NA, Feng Q, Puckelwartz MJ, Weng C, Smith JL, Karlson EW; Regeneron Genetics Center; Penn Medicine BioBank; Jarvik GP, Ritchie MD. Hui D, et al. Among authors: karlson ew. Elife. 2025 Jan 24;12:RP88149. doi: 10.7554/eLife.88149. Elife. 2025. PMID: 39851248 Free PMC article.
Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation.
Rasmussen-Torvik LJ, Bonini KE, Harr MH, Abbass MA, Bangash H, Bland HT, Boyd BM, Chung WK, Clayton EW, Cohen SJ, Connolly JJ, Gascoigne C, Hernandez V, Holm IA, Horike-Pyne M, Jarvik GP, Karlson EW, Kullo IJ, Limdi NA, Maradik ME, McNally EM, Perez E, Prows CA, Shaibi GQ, Weng C, Rowley RK, Peterson JF, Linder JE, Sabatello M. Rasmussen-Torvik LJ, et al. Among authors: karlson ew. Genet Med. 2025 May 16;27(8):101457. doi: 10.1016/j.gim.2025.101457. Online ahead of print. Genet Med. 2025. PMID: 40391568
Polygenic Risk for Type 2 Diabetes in African Americans.
Irvin MR, Ge T, Patki A, Srinivasasainagendra V, Armstrong ND, Davis B, Jones AC, Perez E, Stalbow L, Lebo M, Kenny E, Loos RJF, Ng MCY, Smoller JW, Meigs JB, Lange LA, Karlson EW, Limdi NA, Tiwari HK. Irvin MR, et al. Among authors: karlson ew. Diabetes. 2024 Jun 1;73(6):993-1001. doi: 10.2337/db23-0232. Diabetes. 2024. PMID: 38470993 Free PMC article.
Variant level heritability estimates of type 2 diabetes in African Americans.
Armstrong ND, Patki A, Srinivasasainagendra V, Ge T, Lange LA, Kottyan L, Namjou B, Shah AS, Rasmussen-Torvik LJ, Jarvik GP, Meigs JB, Karlson EW, Limdi NA, Irvin MR, Tiwari HK. Armstrong ND, et al. Among authors: karlson ew. Sci Rep. 2024 Jun 18;14(1):14009. doi: 10.1038/s41598-024-64711-3. Sci Rep. 2024. PMID: 38890458 Free PMC article.
357 results