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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.
Genet Med. 2019.
PMID: 30181607
Free PMC article.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.
Rivera-Muñoz EA, et al.
Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.
Hum Mutat. 2018.
PMID: 30311389
Free PMC article.
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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.
Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631.
Hum Mutat. 2018.
PMID: 30311382
Free PMC article.
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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Popejoy AB, Ritter DI, Crooks K, Currey E, Fullerton SM, Hindorff LA, Koenig B, Ramos EM, Sorokin EP, Wand H, Wright MW, Zou J, Gignoux CR, Bonham VL, Plon SE, Bustamante CD; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG).
Popejoy AB, et al.
Hum Mutat. 2018 Nov;39(11):1713-1720. doi: 10.1002/humu.23644.
Hum Mutat. 2018.
PMID: 30311373
Free PMC article.
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Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy HP, Raskin M, Stosic M, Uhlmann W, Wain KE, Currey E, Faucett WA.
Ormond KE, et al.
Genet Med. 2019 Mar;21(3):727-735. doi: 10.1038/s41436-018-0093-6. Epub 2018 Jul 6.
Genet Med. 2019.
PMID: 29976988
Free PMC article.
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Early biochemical response to parathyroidectomy for primary hyperparathyroidism and its predictive value for recurrent hypercalcemia and recurrent primary hyperparathyroidism.
Ryder CY, Jarocki A, McNeely MM, Currey E, Miller BS, Cohen MS, Gauger PG, Hughes DT.
Ryder CY, et al.
Surgery. 2021 Jan;169(1):120-125. doi: 10.1016/j.surg.2020.05.049. Epub 2020 Aug 5.
Surgery. 2021.
PMID: 32768241
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