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Page 1
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Consortium… See abstract for full author list ➔ Linder JE, et al. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson E, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin LJ, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei WQ, Fullerton SM. Lewis ACF, et al. Among authors: rasmussen torvik lj. Am J Hum Genet. 2024 Apr 29:S0002-9297(24)00120-4. doi: 10.1016/j.ajhg.2024.04.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 38688278 Review.
Heart Failure Risk Among African-American Women With an ICAM1 Missense Variant.
Dalal PJ, Giro P, Rasmussen-Torvik LJ, Yancy CW, Shah SJ, Reiner AP, Haring B, Martin LW, Wells GL, Manson JE, Kooperberg C, Eaton CB, Patel RB. Dalal PJ, et al. Among authors: rasmussen torvik lj. JACC Heart Fail. 2024 Mar 11:S2213-1779(24)00145-8. doi: 10.1016/j.jchf.2024.02.002. Online ahead of print. JACC Heart Fail. 2024. PMID: 38530700
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Thangam M, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franc… See abstract for full author list ➔ Suzuki K, et al. Among authors: rasmussen torvik lj. Nature. 2024 Mar;627(8003):347-357. doi: 10.1038/s41586-024-07019-6. Epub 2024 Feb 19. Nature. 2024. PMID: 38374256 Free PMC article.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Linder JE, Tao R, Chung WK, Kiryluk K, Liu C, Weng C, Connolly JJ, Hakonarson H, Harr M, Leppig KA, Jarvik GP, Veenstra DL, Aufox S, Chisholm RL, Gordon AS, Hoell C, Rasmussen-Torvik LJ, Smith ME, Holm IA, Miller EM, Prows CA, Elskeally O, Kullo IJ, Lee C, Jose S, Manolio TA, Rowley R, Padi-Adjirackor NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF. Linder JE, et al. Among authors: rasmussen torvik lj. Am J Hum Genet. 2023 Nov 2;110(11):1950-1958. doi: 10.1016/j.ajhg.2023.10.006. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883979 Free PMC article.
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
Li JH, Brenner LN, Kaur V, Figueroa K, Schroeder P, Huerta-Chagoya A; MAGIC Investigators; Diabetes Prevention Program (DPP) Research Group; Udler MS, Leong A, Mercader JM, Florez JC. Li JH, et al. Diabetologia. 2023 Jul;66(7):1260-1272. doi: 10.1007/s00125-023-05922-7. Epub 2023 May 26. Diabetologia. 2023. PMID: 37233759 Free PMC article.
Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm.
Joo YY, Pacheco JA, Thompson WK, Rasmussen-Torvik LJ, Rasmussen LV, Lin FTJ, Andrade M, Borthwick KM, Bottinger E, Cagan A, Carrell DS, Denny JC, Ellis SB, Gottesman O, Linneman JG, Pathak J, Peissig PL, Shang N, Tromp G, Veerappan A, Smith ME, Chisholm RL, Gawron AJ, Hayes MG, Kho AN. Joo YY, et al. Among authors: rasmussen torvik lj. PLoS One. 2023 May 17;18(5):e0283553. doi: 10.1371/journal.pone.0283553. eCollection 2023. PLoS One. 2023. PMID: 37196047 Free PMC article.
149 results