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Clinical outcomes of a genomic screening program for actionable genetic conditions.
Buchanan AH, Lester Kirchner H, Schwartz MLB, Kelly MA, Schmidlen T, Jones LK, Hallquist MLG, Rocha H, Betts M, Schwiter R, Butry L, Lazzeri AL, Frisbie LR, Rahm AK, Hao J, Willard HF, Martin CL, Ledbetter DH, Williams MS, Sturm AC. Buchanan AH, et al. Genet Med. 2020 Nov;22(11):1874-1882. doi: 10.1038/s41436-020-0876-4. Epub 2020 Jun 30. Genet Med. 2020. PMID: 32601386 Free PMC article.
Evidence synthesis and guideline development in genomic medicine: current status and future prospects.
Schully SD, Lam TK, Dotson WD, Chang CQ, Aronson N, Birkeland ML, Brewster SJ, Boccia S, Buchanan AH, Calonge N, Calzone K, Djulbegovic B, Goddard KA, Klein RD, Klein TE, Lau J, Long R, Lyman GH, Morgan RL, Palmer CG, Relling MV, Rubinstein WS, Swen JJ, Terry SF, Williams MS, Khoury MJ. Schully SD, et al. Among authors: buchanan ah. Genet Med. 2015 Jan;17(1):63-7. doi: 10.1038/gim.2014.69. Epub 2014 Jun 19. Genet Med. 2015. PMID: 24946156 Free PMC article.
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee. Hampel H, et al. Genet Med. 2015 Jan;17(1):70-87. doi: 10.1038/gim.2014.147. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25394175 Free article.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA. Hunter JE, et al. Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. Epub 2016 Apr 28. Genet Med. 2016. PMID: 27124788 Free PMC article.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Among authors: buchanan ah. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
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