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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. Among authors: webber em. 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.
KRAS testing and epidermal growth factor receptor inhibitor treatment for colorectal cancer in community settings.
Webster J, Kauffman TL, Feigelson HS, Pawloski PA, Onitilo AA, Potosky AL, Cross D, Meier PR, Mirabedi AS, Delate T, Daida Y, Williams AE, Alexander GL, McCarty CA, Honda S, Kushi LH, Goddard KA; CERGEN study team. Webster J, et al. Cancer Epidemiol Biomarkers Prev. 2013 Jan;22(1):91-101. doi: 10.1158/1055-9965.EPI-12-0545. Epub 2012 Nov 15. Cancer Epidemiol Biomarkers Prev. 2013. PMID: 23155138 Free PMC article.
Family history and the natural history of colorectal cancer: systematic review.
Henrikson NB, Webber EM, Goddard KA, Scrol A, Piper M, Williams MS, Zallen DT, Calonge N, Ganiats TG, Janssens AC, Zauber A, Lansdorp-Vogelaar I, van Ballegooijen M, Whitlock EP. Henrikson NB, et al. Among authors: webber em. Genet Med. 2015 Sep;17(9):702-12. doi: 10.1038/gim.2014.188. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590981 Free PMC article. Review.
Cost Effectiveness of Age-Specific Screening Intervals for People With Family Histories of Colorectal Cancer.
Naber SK, Kuntz KM, Henrikson NB, Williams MS, Calonge N, Goddard KAB, Zallen DT, Ganiats TG, Webber EM, Janssens ACJW, van Ballegooijen M, Zauber AG, Lansdorp-Vogelaar I. Naber SK, et al. Among authors: webber em. Gastroenterology. 2018 Jan;154(1):105-116.e20. doi: 10.1053/j.gastro.2017.09.021. Epub 2017 Sep 28. Gastroenterology. 2018. PMID: 28964749 Free PMC article.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource. Webber EM, et al. Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631. Hum Mutat. 2018. PMID: 30311382 Free PMC article.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, Wallace KE, Buchanan AH, Foreman AKM, Freed AS, Goehringer S, Manickam K, Meeks NJL, Ramos EM, Shah N, Steiner RD, Subramanian SL, Trotter T, Webber EM, Williams MS, Goddard KAB, Powell BC; ClinGen. Hunter JE, et al. Among authors: webber em. Genet Med. 2022 Jun;24(6):1328-1335. doi: 10.1016/j.gim.2022.02.019. Epub 2022 Mar 25. Genet Med. 2022. PMID: 35341655 Free PMC article.
77 results