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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. Among authors: muessig k. 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.
Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KAB. Himes P, et al. Among authors: muessig kr. Genet Med. 2017 Jul;19(7):803-808. doi: 10.1038/gim.2016.198. Epub 2017 Jan 12. Genet Med. 2017. PMID: 28079899 Free PMC article.
Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.
Hunter JE, Arnold KA, Cook JE, Zepp J, Gilmore MJ, Rope AF, Davis JV, Bergen KM, Esterberg E, Muessig KR, Peterson SK, Syngal S, Acheson L, Wiesner G, Reiss J, Goddard KAB. Hunter JE, et al. Among authors: muessig kr. Fam Cancer. 2017 Jul;16(3):377-387. doi: 10.1007/s10689-017-9972-2. Fam Cancer. 2017. PMID: 28176204 Free PMC article.
Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.
Schneider JL, Goddard KAB, Muessig KR, Davis JV, Rope AF, Hunter JE, Peterson SK, Acheson LS, Syngal S, Wiesner GL, Reiss JA. Schneider JL, et al. Among authors: muessig kr. Hered Cancer Clin Pract. 2018 May 10;16:11. doi: 10.1186/s13053-018-0090-4. eCollection 2018. Hered Cancer Clin Pract. 2018. PMID: 29760830 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. Among authors: muessig kr. Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631. Hum Mutat. 2018. PMID: 30311382 Free PMC article.
Assessing the implications of positive genomic screening results.
Waltz M, Meagher KM, Henderson GE, Goddard KA, Muessig K, Berg JS, Weck KE, Cadigan RJ. Waltz M, et al. Among authors: muessig k. Per Med. 2020 Mar;17(2):101-109. doi: 10.2217/pme-2019-0067. Epub 2020 Mar 3. Per Med. 2020. PMID: 32125936 Free PMC article.
165 results