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Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
Ferket BS, Baldwin Z, Murali P, Pai A, Mittendorf KF, Russell HV, Chen F, Lynch FL, Lich KH, Hindorff LA, Savich R, Slavotinek A, Smith HS, Gelb BD, Veenstra DL. Ferket BS, et al. Among authors: smith hs. Genet Med. 2022 Oct;24(10):2014-2027. doi: 10.1016/j.gim.2022.06.004. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833928 Free PMC article. Review.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.
Lessons learned about harmonizing survey measures for the CSER consortium.
Goddard KAB, Angelo FAN, Ackerman SL, Berg JS, Biesecker BB, Danila MI, East KM, Hindorff LA, Horowitz CR, Hunter JE, Joseph G, Knight SJ, McGuire A, Muessig KR, Ou J, Outram S, Rahn EJ, Ramos MA, Rini C, Robinson JO, Smith HS, Waltz M, Lee SS. Goddard KAB, et al. Among authors: smith hs. J Clin Transl Sci. 2020 Apr 24;4(6):537-546. doi: 10.1017/cts.2020.41. J Clin Transl Sci. 2020. PMID: 33948230 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: smith hs. 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.
Conceptualization of utility in translational clinical genomics research.
Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Smith HS, et al. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. Am J Hum Genet. 2021. PMID: 34687653 Free PMC article. Review.
357 results