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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: crosslin d. medRxiv [Preprint]. 2025 Apr 3:2025.04.01.25325049. doi: 10.1101/2025.04.01.25325049. medRxiv. 2025. PMID: 40236425 Free PMC article. Preprint.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. Am J Hum Genet. 2016. PMID: 27392080 Free PMC article. No abstract available.
Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record.
Rosenthal EA, Wei WQ, Luo Y, Namjou-Khales B, Schaid DJ, Esplin ED, Lape M, Kottyan L, Pacheco JAPA, Weng C, Gordon AS, Kullo IJ, Crosslin DR, Grady WM, Hsu L, Peters U, Jarvik GP. Rosenthal EA, et al. Among authors: crosslin dr. medRxiv [Preprint]. 2025 Feb 28:2025.02.26.25322864. doi: 10.1101/2025.02.26.25322864. medRxiv. 2025. PMID: 40061333 Free PMC article. Preprint.
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height.
Papadopoulou A, Litkowski EM, Graff M, Wang Z, Smit RAJ, Chittoor G, Dinsmore I, Josyula NS, Lin M, Shortt J, Zhu W, Vedantam SL, Yengo L, Wood AR, Berndt SI, Holm IA, Mentch FD, Hakonarson H, Kiryluk K, Weng C, Jarvik GP, Crosslin D, Carrell D, Kullo IJ, Dikilitas O, Hayes MG, Wei W-, Edwards DRV, Assimes TL, Hirschhorn JN, Below JE, Gignoux CR, Justice AE, Loos RJF, Sun YV, Raghavan S, Deloukas P, North KE, Marouli E. Papadopoulou A, et al. Among authors: crosslin d. NPJ Genom Med. 2025 Feb 27;10(1):14. doi: 10.1038/s41525-025-00464-w. NPJ Genom Med. 2025. PMID: 40016231 Free PMC article.
Genome-wide association study of susceptibility to hospitalised respiratory infections.
Williams AT, Shrine N, Naghra-van Gijzel H, Betts JC, Chen J, Hessel EM, John C, Packer R, Reeve NF, Yeo AJ, Abner E, Åsvold BO, Auvinen J, Bartz TM, Bradford Y, Brumpton B, Campbell A, Cho MH, Chu S, Crosslin DR, Feng Q, Esko T, Gharib SA, Hayward C, Hebbring S, Hveem K, Järvelin MR, Jarvik GP, Landis SH, Larson EB, Liu J, Loos RJF, Luo Y, Moscati A, Mullerova H, Namjou B, Porteous DJ, Quint JK; Regeneron Genomics Center; Ritchie MD, Sliz E, Stanaway IB, Thomas L, Wilson JF, Hall IP, Wain LV, Michalovich D, Tobin MD. Williams AT, et al. Among authors: crosslin dr. Wellcome Open Res. 2023 Nov 21;6:290. doi: 10.12688/wellcomeopenres.17230.2. eCollection 2021. Wellcome Open Res. 2023. PMID: 39220670 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.
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: crosslin dr. 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.
Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.
Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR. Ferar K, et al. Among authors: crosslin dr. Sci Rep. 2023 Nov 15;13(1):19972. doi: 10.1038/s41598-023-47359-3. Sci Rep. 2023. PMID: 37968452 Free PMC article. No abstract available.
170 results