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Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, Holm IA, Beggs AH; BabySeq Project Team. Green RC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1034-1045. doi: 10.1016/j.ajhg.2023.05.007. Epub 2023 Jun 5. Am J Hum Genet. 2023. PMID: 37279760 Free PMC article.
A framework for automated gene selection in genomic applications.
Lazo de la Vega L, Yu W, Machini K, Austin-Tse CA, Hao L, Blout Zawatsky CL, Mason-Suares H, Green RC, Rehm HL, Lebo MS. Lazo de la Vega L, et al. Genet Med. 2021 Oct;23(10):1993-1997. doi: 10.1038/s41436-021-01213-x. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113001 Free PMC article.
Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.
Koyama S, Wang Y, Paruchuri K, Uddin MM, Cho SMJ, Urbut SM, Haidermota S, Hornsby WE, Green RC, Daly MJ, Neale BM, Ellinor PT, Smoller JW, Lebo MS, Karlson EW, Martin AR, Natarajan P. Koyama S, et al. medRxiv [Preprint]. 2023 Oct 25:2023.10.24.23297096. doi: 10.1101/2023.10.24.23297096. medRxiv. 2023. PMID: 37961173 Free PMC article. Preprint.
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Blout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H, Steeves M, Koch C, Uveges M, Shea J, Gold N, Krier J, Boutin N, Mahanta L, Rehm HL, Weiss ST, Karlson EW, Smoller JW, Lebo MS, Green RC. Blout Zawatsky CL, et al. Am J Hum Genet. 2021 Dec 2;108(12):2224-2237. doi: 10.1016/j.ajhg.2021.10.005. Epub 2021 Nov 8. Am J Hum Genet. 2021. PMID: 34752750 Free PMC article.
14 results