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Page 1
Genomic considerations for FHIR®; eMERGE implementation lessons.
Murugan M, Babb LJ, Overby Taylor C, Rasmussen LV, Freimuth RR, Venner E, Yan F, Yi V, Granite SJ, Zouk H, Aronson SJ, Power K, Fedotov A, Crosslin DR, Fasel D, Jarvik GP, Hakonarson H, Bangash H, Kullo IJ, Connolly JJ, Nestor JG, Caraballo PJ, Wei W, Wiley K, Rehm HL, Gibbs RA. Murugan M, et al. J Biomed Inform. 2021 Jun;118:103795. doi: 10.1016/j.jbi.2021.103795. Epub 2021 Apr 28. J Biomed Inform. 2021. PMID: 33930535 Free PMC article.
The phenotypic spectrum of Xia-Gibbs syndrome.
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. Jiang Y, et al. Among authors: murugan m. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696776 Free PMC article.
ARBoR: an identity and security solution for clinical reporting.
Venner E, Murugan M, Hale W, Jones JM, Lu S, Yi V, Gibbs RA. Venner E, et al. Among authors: murugan m. J Am Med Inform Assoc. 2019 Nov 1;26(11):1370-1374. doi: 10.1093/jamia/ocz107. J Am Med Inform Assoc. 2019. PMID: 31241152 Free PMC article.
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. Among authors: murugan m. 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.
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR, Venner E, Muzny DM, Metcalf GA, Murugan M, Hadley TD, Chander V, de Vries PS, Jia X, Hussain A, Agha AM, Sabo A, Li S, Meng Q, Hu J, Tian X, Cohen M, Yi V, Kovar CL, Gingras MC, Korchina V, Howard C, Riconda DL, Pereira S, Smith HS, Huda ZA, Buentello A, Marino PR, Leiber L, Balasubramanyam A, Amos CI, Civitello AB, Chelu MG, Maag R, McGuire AL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA. Murdock DR, et al. Among authors: murugan m. Genet Med. 2021 Dec;23(12):2404-2414. doi: 10.1038/s41436-021-01294-8. Epub 2021 Aug 6. Genet Med. 2021. PMID: 34363016 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Artificial Intelligence and Cardiovascular Genetics.
Krittanawong C, Johnson KW, Choi E, Kaplin S, Venner E, Murugan M, Wang Z, Glicksberg BS, Amos CI, Schatz MC, Tang WHW. Krittanawong C, et al. Among authors: murugan m. Life (Basel). 2022 Feb 14;12(2):279. doi: 10.3390/life12020279. Life (Basel). 2022. PMID: 35207566 Free PMC article. Review.
Genetic Sex Validation for Sample Tracking in 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, Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. Among authors: murugan m. Res Sq [Preprint]. 2023 Sep 11:rs.3.rs-3304685. doi: 10.21203/rs.3.rs-3304685/v1. Res Sq. 2023. Update in: BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. PMID: 37790445 Free PMC article. Updated. Preprint.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
173 results