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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: hunter je. Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631. Hum Mutat. 2018. PMID: 30311382 Free PMC 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.
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. 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: hunter je. 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.
Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.
Clarke EV, Muessig KR, Zepp J, Hunter JE, Syngal S, Acheson LS, Wiesner GL, Peterson SK, Bergen KM, Shuster E, Davis JV, Schneider JL, Kauffman TL, Gilmore MJ, Reiss JA, Rope AF, Cook JE, Goddard KAB. Clarke EV, et al. Among authors: hunter je. Fam Cancer. 2019 Jul;18(3):317-325. doi: 10.1007/s10689-019-00123-x. Fam Cancer. 2019. PMID: 30729418 Free PMC article. Clinical Trial.
Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.
Mittendorf KF, Hunter JE, Schneider JL, Shuster E, Rope AF, Zepp J, Gilmore MJ, Muessig KR, Davis JV, Kauffman TL, Bergen KM, Wiesner GL, Acheson LS, Peterson SK, Syngal S, Reiss JA, Goddard KAB. Mittendorf KF, et al. Among authors: hunter je. Hered Cancer Clin Pract. 2019 Dec 16;17:31. doi: 10.1186/s13053-019-0130-8. eCollection 2019. Hered Cancer Clin Pract. 2019. PMID: 31890059 Free PMC article.
Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population.
Mittendorf KF, Ukaegbu C, Gilmore MJ, Lindberg NM, Kauffman TL, Eubanks DJ, Shuster E, Allen J, McMullen C, Feigelson HS, Anderson KP, Leo MC, Hunter JE, Sasaki SO, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. Mittendorf KF, et al. Among authors: hunter je. Fam Cancer. 2022 Apr;21(2):167-180. doi: 10.1007/s10689-021-00243-3. Epub 2021 Mar 23. Fam Cancer. 2022. PMID: 33754278 Free PMC article.
217 results