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2020 8
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Page 1
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.
Levin MG, Tsao NL, Singhal P, Liu C, Vy HMT, Paranjpe I, Backman JD, Bellomo TR, Bone WP, Biddinger KJ, Hui Q, Dikilitas O, Satterfield BA, Yang Y, Morley MP, Bradford Y, Burke M, Reza N, Charest B; Regeneron Genetics Center; Judy RL, Puckelwartz MJ, Hakonarson H, Khan A, Kottyan LC, Kullo I, Luo Y, McNally EM, Rasmussen-Torvik LJ, Day SM, Do R, Phillips LS, Ellinor PT, Nadkarni GN, Ritchie MD, Arany Z, Cappola TP, Margulies KB, Aragam KG, Haggerty CM, Joseph J, Sun YV, Voight BF, Damrauer SM. Levin MG, et al. Nat Commun. 2022 Nov 14;13(1):6914. doi: 10.1038/s41467-022-34216-6. Nat Commun. 2022. PMID: 36376295 Free PMC article.
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.
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE. Lennon NJ, et al. Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19. Nat Med. 2024. PMID: 38374346 Free PMC article.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. Nat Commun. 2023. PMID: 38036523 Free PMC article.
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.
Connolly JJ, Berner ES, Smith M, Levy S, Terek S, Harr M, Karavite D, Suckiel S, Holm IA, Dufendach K, Nelson C, Khan A, Chisholm RL, Allworth A, Wei WQ, Bland HT, Clayton EW, Soper ER, Linder JE, Limdi NA, Miller A, Nigbur S, Bangash H, Hamed M, Sherafati A, Lewis ACF, Perez E, Orlando LA, Rakhra-Burris TK, Al-Dulaimi M, Cifric S, Scherr CL, Wynn J, Hakonarson H, Sabatello M. Connolly JJ, et al. Genet Med. 2023 Sep;25(9):100906. doi: 10.1016/j.gim.2023.100906. Epub 2023 May 26. Genet Med. 2023. PMID: 37246632 Free PMC article. Review.
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. Hespe S, et al. medRxiv [Preprint]. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195. medRxiv. 2024. PMID: 39132495 Free PMC article. Preprint.
Studying the impact of translational genomic research: Lessons from eMERGE.
Clayton EW, Smith ME, Anderson KC, Chung WK, Connolly JJ, Fullerton SM, McGowan ML, Peterson JF, Prows CA, Sabatello M, Holm IA. Clayton EW, et al. Am J Hum Genet. 2023 Jul 6;110(7):1021-1033. doi: 10.1016/j.ajhg.2023.05.011. Epub 2023 Jun 20. Am J Hum Genet. 2023. PMID: 37343562 Free PMC article. Review.
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. Am J Hum Genet. 2024 Jun 6;111(6):999-1005. doi: 10.1016/j.ajhg.2024.04.005. Epub 2024 Apr 29. Am J Hum Genet. 2024. PMID: 38688278 Free PMC article. Review.
Multiancestral polygenic risk score for pediatric asthma.
Namjou B, Lape M, Malolepsza E, DeVore SB, Weirauch MT, Dikilitas O, Jarvik GP, Kiryluk K, Kullo IJ, Liu C, Luo Y, Satterfield BA, Smoller JW, Walunas TL, Connolly J, Sleiman P, Mersha TB, Mentch FD, Hakonarson H, Prows CA, Biagini JM, Khurana Hershey GK, Martin LJ, Kottyan L; eMERGE Network. Namjou B, et al. J Allergy Clin Immunol. 2022 Nov;150(5):1086-1096. doi: 10.1016/j.jaci.2022.03.035. Epub 2022 May 18. J Allergy Clin Immunol. 2022. PMID: 35595084 Free PMC article.
Characterizing variability of electronic health record-driven phenotype definitions.
Brandt PS, Kho A, Luo Y, Pacheco JA, Walunas TL, Hakonarson H, Hripcsak G, Liu C, Shang N, Weng C, Walton N, Carrell DS, Crane PK, Larson EB, Chute CG, Kullo IJ, Carroll R, Denny J, Ramirez A, Wei WQ, Pathak J, Wiley LK, Richesson R, Starren JB, Rasmussen LV. Brandt PS, et al. J Am Med Inform Assoc. 2023 Feb 16;30(3):427-437. doi: 10.1093/jamia/ocac235. J Am Med Inform Assoc. 2023. PMID: 36474423 Free PMC article.
28 results