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Studying the impact of translational genomic research: Lessons from eMERGE.
Clayton EW, Smith ME, Anderson KC, Chung WK, Connolly JJ, Fullerton SM, McGowan ML, Peterson JF, Prows CA, Sabatello M, Holm IA. Clayton EW, et al. Among authors: fullerton sm. Am J Hum Genet. 2023 Jul 6;110(7):1021-1033. doi: 10.1016/j.ajhg.2023.05.011. Epub 2023 Jun 20. Am J Hum Genet. 2023. PMID: 37343562 Free PMC article. Review.
Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium.
Clayton EW, Smith M, Fullerton SM, Burke W, McCarty CA, Koenig BA, McGuire AL, Beskow LM, Dressler L, Lemke AA, Ramos EM, Rodriguez LL; Consent and Community Consultation Working Group of the eMERGE Consortium. Clayton EW, et al. Among authors: fullerton sm. Genet Med. 2010 Oct;12(10):616-20. doi: 10.1097/GIM.0b013e3181efdbd0. Genet Med. 2010. PMID: 20733502 Free PMC article. No abstract available.
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.
The PRIMED Consortium: Reducing disparities in polygenic risk assessment.
Kullo IJ, Conomos MP, Nelson SC, Adebamowo SN, Choudhury A, Conti D, Fullerton SM, Gogarten SM, Heavner B, Hornsby WE, Kenny EE, Khan A, Khera AV, Li Y, Martin I, Mercader JM, Ng M, Raffield LM, Reiner A, Rowley R, Schaid D, Stilp A, Wiley K, Wilson R, Witte JS, Natarajan P; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium. Kullo IJ, et al. Among authors: fullerton sm. Am J Hum Genet. 2024 Dec 5;111(12):2594-2606. doi: 10.1016/j.ajhg.2024.10.010. Epub 2024 Nov 18. Am J Hum Genet. 2024. PMID: 39561770 Free PMC article.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Matalon DR, Zepeda-Mendoza CJ, Aarabi M, Brown K, Fullerton SM, Kaur S, Quintero-Rivera F, Vatta M; ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee. Electronic address: documents@acmg.net. Matalon DR, et al. Among authors: fullerton sm. Genet Med. 2023 Jun;25(6):100812. doi: 10.1016/j.gim.2023.100812. Epub 2023 Apr 14. Genet Med. 2023. PMID: 37058144 Free article. No abstract available.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: fullerton sm. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Genomic Data and Privacy.
Myers CT, Kumar RD, Pilgram L, Bonomi L, Thomas M, Griffith OL, Fullerton SM, Gibbs RA. Myers CT, et al. Among authors: fullerton sm. Clin Chem. 2025 Jan 3;71(1):10-17. doi: 10.1093/clinchem/hvae184. Clin Chem. 2025. PMID: 39749498 No abstract available.
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Tayeh MK, Chen M, Fullerton SM, Gonzales PR, Huang SJ, Massingham LJ, O'Daniel JM, Stewart DR, Stiles AR, Evans BJ; ACMG Laboratory Quality Assurance Committee and the ACMG Social, Ethical and Legal Issues Committee. Electronic address: documents@acmg.net. Tayeh MK, et al. Among authors: fullerton sm. Genet Med. 2023 Mar;25(3):100342. doi: 10.1016/j.gim.2022.11.010. Epub 2022 Dec 22. Genet Med. 2023. PMID: 36547466 Free article. No abstract available.
197 results