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Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR; ACMG Professional Practice and Guidelines Committee. Li MM, et al. Among authors: esplin ed. Genet Med. 2020 Jul;22(7):1142-1148. doi: 10.1038/s41436-020-0783-8. Epub 2020 Apr 23. Genet Med. 2020. PMID: 32321997 Free article. No abstract available.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Eno C, et al. Among authors: esplin ed. Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214068 Free article.
Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).
Pal T, Agnese D, Daly M, La Spada A, Litton J, Wick M, Klugman S, Esplin ED, Jarvik GP; Professional Practice and Guidelines Committee. Pal T, et al. Among authors: esplin ed. Genet Med. 2020 Apr;22(4):681-685. doi: 10.1038/s41436-019-0712-x. Epub 2019 Dec 13. Genet Med. 2020. PMID: 31831881 Free article. No abstract available.
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH, Abou Alaiwi S, AlDubayan SH, Moore N, Mouw KW, Kwiatkowski DJ, Choueiri TK, Curran C, Berchuck JE, Harshman LC, Nuzzo PV, Chanza NM, Van Allen E, Esplin ED, Yang S, Callis T, Garber JE, Rana HQ, Sonpavde G. Nassar AH, et al. Among authors: esplin ed. Genet Med. 2020 Apr;22(4):709-718. doi: 10.1038/s41436-019-0720-x. Epub 2019 Dec 17. Genet Med. 2020. PMID: 31844177 Free PMC article.
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
South ST, McClure M, Astbury C, Bashford MT, Benkendorf J, Esplin ED, Monaghan KG, Oglesbee D, Sutton VR, Watson MS; ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines Committees. South ST, et al. Among authors: esplin ed. Genet Med. 2020 Jun;22(6):983-985. doi: 10.1038/s41436-020-0765-x. Epub 2020 Mar 4. Genet Med. 2020. PMID: 32127695 Free article. No abstract available.
115 results