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Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.
Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM, Gollob MH, Jenkins CL, Katz AE, Lee K, Meeks N, O'Daniel JM, Posey JE, Rego SM, Shah N, Steiner RD, Stergachis AB, Subramanian SL, Trotter T, Wallace K, Williams MS, Goddard KAB, Buchanan AH, Manickam K, Powell B, Ezzell Hunter J; ClinGen Resource. Pak CM, et al. Among authors: rego sm. Genet Med. 2024 Aug;26(8):101164. doi: 10.1016/j.gim.2024.101164. Epub 2024 May 14. Genet Med. 2024. PMID: 38757444 Free 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.
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
O'Daniel JM, Ackerman S, Desrosiers LR, Rego S, Knight SJ, Mollison L, Byfield G, Anderson KP, Danila MI, Horowitz CR, Joseph G, Lamoure G, Lindberg NM, McMullen CK, Mittendorf KF, Ramos MA, Robinson M, Sillari C, Madden EB; CSER Stakeholder and Engagement Work Group. O'Daniel JM, et al. Genet Med. 2022 May;24(5):1108-1119. doi: 10.1016/j.gim.2022.01.008. Epub 2022 Feb 25. Genet Med. 2022. PMID: 35227608 Free PMC article.
Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium.
Suckiel SA, O'Daniel JM, Donohue KE, Gallagher KM, Gilmore MJ, Hendon LG, Joseph G, Lianoglou BR, Mathews JM, Norton ME, Odgis JA, Poss AF, Rego S, Scollon S, Yip T, Amendola LM. Suckiel SA, et al. J Pers Med. 2021 Mar 13;11(3):202. doi: 10.3390/jpm11030202. J Pers Med. 2021. PMID: 33805616 Free PMC article.
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.
Slavotinek A, Prasad H, Outram S, Scollon S, Rego S, Yip T, Hoban H, Foreman KM, Kelley W, Finnila C, Berg J, Murali P, Bonini KE, Martin LJ, Hott A. Slavotinek A, et al. Genet Med. 2023 Sep;25(9):100899. doi: 10.1016/j.gim.2023.100899. Epub 2023 May 19. Genet Med. 2023. PMID: 37212252 Free PMC article.
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.
Rego S, Hoban H, Outram S, Zamora AN, Chen F, Sahin-Hodoglugil N, Anguiano B, Norstad M, Yip T, Lianoglou B, Sparks TN, Norton ME, Koenig BA, Slavotinek AM, Ackerman SL. Rego S, et al. Genet Med. 2022 Jun;24(6):1206-1216. doi: 10.1016/j.gim.2022.02.004. Epub 2022 Apr 8. Genet Med. 2022. PMID: 35396980 Free PMC article.
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S, Dagan-Rosenfeld O, Zhou W, Sailani MR, Limcaoco P, Colbert E, Avina M, Wheeler J, Craig C, Salins D, Röst HL, Dunn J, McLaughlin T, Steinmetz LM, Bernstein JA, Snyder MP. Rego S, et al. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003178. doi: 10.1101/mcs.a003178. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30487145 Free PMC article.
29 results