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266 results

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Page 1
Improving reporting standards for polygenic scores in risk prediction studies.
Wand H, Lambert SA, Tamburro C, Iacocca MA, O'Sullivan JW, Sillari C, Kullo IJ, Rowley R, Dron JS, Brockman D, Venner E, McCarthy MI, Antoniou AC, Easton DF, Hegele RA, Khera AV, Chatterjee N, Kooperberg C, Edwards K, Vlessis K, Kinnear K, Danesh JN, Parkinson H, Ramos EM, Roberts MC, Ormond KE, Khoury MJ, Janssens ACJW, Goddard KAB, Kraft P, MacArthur JAL, Inouye M, Wojcik GL. Wand H, et al. Among authors: ramos em. Nature. 2021 Mar;591(7849):211-219. doi: 10.1038/s41586-021-03243-6. Epub 2021 Mar 10. Nature. 2021. PMID: 33692554 Free PMC article. Review.
Finding the missing heritability of complex diseases.
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. Manolio TA, et al. Among authors: ramos em. Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494. Nature. 2009. PMID: 19812666 Free PMC article. Review.
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.
Mechanic LE, Chen HS, Amos CI, Chatterjee N, Cox NJ, Divi RL, Fan R, Harris EL, Jacobs K, Kraft P, Leal SM, McAllister K, Moore JH, Paltoo DN, Province MA, Ramos EM, Ritchie MD, Roeder K, Schaid DJ, Stephens M, Thomas DC, Weinberg CR, Witte JS, Zhang S, Zöllner S, Feuer EJ, Gillanders EM. Mechanic LE, et al. Among authors: ramos em. Genet Epidemiol. 2012 Jan;36(1):22-35. doi: 10.1002/gepi.20652. Epub 2011 Dec 6. Genet Epidemiol. 2012. PMID: 22147673 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: ramos 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.
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. Among authors: ramos em. Hum Mutat. 2018 Nov;39(11):1713-1720. doi: 10.1002/humu.23644. Hum Mutat. 2018. PMID: 30311373 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: ramos em. Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631. Hum Mutat. 2018. PMID: 30311382 Free PMC article.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Popejoy AB, Crooks KR, Fullerton SM, Hindorff LA, Hooker GW, Koenig BA, Pino N, Ramos EM, Ritter DI, Wand H, Wright MW, Yudell M, Zou JY, Plon SE, Bustamante CD, Ormond KE; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group. Popejoy AB, et al. Among authors: ramos em. Am J Hum Genet. 2020 Jul 2;107(1):72-82. doi: 10.1016/j.ajhg.2020.05.005. Epub 2020 Jun 6. Am J Hum Genet. 2020. PMID: 32504544 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: ramos 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.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Among authors: ramos em. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
Genomic medicine year in review: 2021.
Manolio TA, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, Jarvik GP, Mensah GA, Ramos EM, Relling MV, Roden DM, Rowley R, Williams MS, Green ED. Manolio TA, et al. Among authors: ramos em. Am J Hum Genet. 2021 Dec 2;108(12):2210-2214. doi: 10.1016/j.ajhg.2021.11.006. Am J Hum Genet. 2021. PMID: 34861172 Free PMC article. No abstract available.
266 results