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684 results

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Page 1
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Among authors: cox nj. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 Free PMC article.
Genome-wide association studies in pharmacogenomics: successes and lessons.
Motsinger-Reif AA, Jorgenson E, Relling MV, Kroetz DL, Weinshilboum R, Cox NJ, Roden DM. Motsinger-Reif AA, et al. Among authors: cox nj. Pharmacogenet Genomics. 2013 Aug;23(8):383-94. doi: 10.1097/FPC.0b013e32833d7b45. Pharmacogenet Genomics. 2013. PMID: 20639796 Free PMC article. Review.
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium; Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Rivas MA, et al. Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877. Science. 2015. PMID: 25954003 Free PMC article.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Manolio TA, et al. Among authors: cox nj. Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005. Cell. 2017. PMID: 28340351 Free PMC article.
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.
Wei WQ, Li X, Feng Q, Kubo M, Kullo IJ, Peissig PL, Karlson EW, Jarvik GP, Lee MTM, Shang N, Larson EA, Edwards T, Shaffer CM, Mosley JD, Maeda S, Horikoshi M, Ritchie M, Williams MS, Larson EB, Crosslin DR, Bland HT, Pacheco JA, Rasmussen-Torvik LJ, Cronkite D, Hripcsak G, Cox NJ, Wilke RA, Stein CM, Rotter JI, Momozawa Y, Roden DM, Krauss RM, Denny JC. Wei WQ, et al. Among authors: cox nj. Circulation. 2018 Oct 23;138(17):1839-1849. doi: 10.1161/CIRCULATIONAHA.117.031356. Circulation. 2018. PMID: 29703846 Free PMC article.
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
Barbeira AN, Dickinson SP, Bonazzola R, Zheng J, Wheeler HE, Torres JM, Torstenson ES, Shah KP, Garcia T, Edwards TL, Stahl EA, Huckins LM; GTEx Consortium; Nicolae DL, Cox NJ, Im HK. Barbeira AN, et al. Among authors: cox nj. Nat Commun. 2018 May 8;9(1):1825. doi: 10.1038/s41467-018-03621-1. Nat Commun. 2018. PMID: 29739930 Free PMC article.
Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational study using electronic health records.
Feng Q, Wei WQ, Chung CP, Levinson RT, Sundermann AC, Mosley JD, Bastarache L, Ferguson JF, Cox NJ, Roden DM, Denny JC, Linton MF, Edwards DRV, Stein CM. Feng Q, et al. Among authors: cox nj. PLoS Med. 2018 Aug 28;15(8):e1002642. doi: 10.1371/journal.pmed.1002642. eCollection 2018 Aug. PLoS Med. 2018. PMID: 30153257 Free PMC article.
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.
Unlu G, Gamazon ER, Qi X, Levic DS, Bastarache L, Denny JC, Roden DM, Mayzus I, Breyer M, Zhong X, Konkashbaev AI, Rzhetsky A, Knapik EW, Cox NJ. Unlu G, et al. Among authors: cox nj. Am J Hum Genet. 2019 Mar 7;104(3):503-519. doi: 10.1016/j.ajhg.2019.01.017. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827500 Free PMC article.
684 results