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Medical Records-Based Genetic Studies of the Complement System.
Khan A, Shang N, Petukhova L, Zhang J, Shen Y, Hebbring SJ, Moncrieffe H, Kottyan LC, Namjou-Khales B, Knevel R, Raychaudhuri S, Karlson EW, Harley JB, Stanaway IB, Crosslin D, Denny JC, Elkind MSV, Gharavi AG, Hripcsak G, Weng C, Kiryluk K. Khan A, et al. Among authors: harley jb. J Am Soc Nephrol. 2021 Aug;32(8):2031-2047. doi: 10.1681/ASN.2020091371. Epub 2021 May 3. J Am Soc Nephrol. 2021. PMID: 33941608 Free PMC article.
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
Namjou B, Lingren T, Huang Y, Parameswaran S, Cobb BL, Stanaway IB, Connolly JJ, Mentch FD, Benoit B, Niu X, Wei WQ, Carroll RJ, Pacheco JA, Harley ITW, Divanovic S, Carrell DS, Larson EB, Carey DJ, Verma S, Ritchie MD, Gharavi AG, Murphy S, Williams MS, Crosslin DR, Jarvik GP, Kullo IJ, Hakonarson H, Li R; eMERGE Network; Xanthakos SA, Harley JB. Namjou B, et al. Among authors: harley jb, harley itw. BMC Med. 2019 Jul 17;17(1):135. doi: 10.1186/s12916-019-1364-z. BMC Med. 2019. PMID: 31311600 Free PMC article.
A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.
Joo YY, Actkins K, Pacheco JA, Basile AO, Carroll R, Crosslin DR, Day F, Denny JC, Velez Edwards DR, Hakonarson H, Harley JB, Hebbring SJ, Ho K, Jarvik GP, Jones M, Karaderi T, Mentch FD, Meun C, Namjou B, Pendergrass S, Ritchie MD, Stanaway IB, Urbanek M, Walunas TL, Smith M, Chisholm RL, Kho AN, Davis L, Hayes MG; International PCOS Consortium. Joo YY, et al. Among authors: harley jb. J Clin Endocrinol Metab. 2020 Jun 1;105(6):1918-36. doi: 10.1210/clinem/dgz326. J Clin Endocrinol Metab. 2020. PMID: 31917831 Free PMC article.
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Namjou B, Stanaway IB, Lingren T, Mentch FD, Benoit B, Dikilitas O, Niu X, Shang N, Shoemaker AH, Carey DJ, Mirshahi T, Singh R, Nestor JG, Hakonarson H, Denny JC, Crosslin DR, Jarvik GP, Kullo IJ, Williams MS; eMERGE Network; Harley JB. Namjou B, et al. Among authors: harley jb. Int J Obes (Lond). 2021 Jan;45(1):155-169. doi: 10.1038/s41366-020-00675-4. Epub 2020 Sep 20. Int J Obes (Lond). 2021. PMID: 32952152 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Global discovery of lupus genetic risk variant allelic enhancer activity.
Lu X, Chen X, Forney C, Donmez O, Miller D, Parameswaran S, Hong T, Huang Y, Pujato M, Cazares T, Miraldi ER, Ray JP, de Boer CG, Harley JB, Weirauch MT, Kottyan LC. Lu X, et al. Among authors: harley jb. Nat Commun. 2021 Mar 12;12(1):1611. doi: 10.1038/s41467-021-21854-5. Nat Commun. 2021. PMID: 33712590 Free PMC article.
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network. Gottesman O, et al. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Genet Med. 2013. PMID: 23743551 Free PMC article. Review.
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.
Namjou B, Marsolo K, Caroll RJ, Denny JC, Ritchie MD, Verma SS, Lingren T, Porollo A, Cobb BL, Perry C, Kottyan LC, Rothenberg ME, Thompson SD, Holm IA, Kohane IS, Harley JB. Namjou B, et al. Among authors: harley jb. Front Genet. 2014 Nov 18;5:401. doi: 10.3389/fgene.2014.00401. eCollection 2014. Front Genet. 2014. PMID: 25477900 Free PMC article.
Identification of Four Novel Loci in Asthma in European American and African American Populations.
Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS, Peissig PL, Linneman JG, McCarty CA, Crosslin D, Carrell DS, Lingren T, Namjou-Khales B, Harley JB, Larson E, Jarvik GP, Brilliant M, Williams MS, Kullo IJ, Hysinger EB, Sleiman PM, Hakonarson H. Almoguera B, et al. Among authors: harley jb. Am J Respir Crit Care Med. 2017 Feb 15;195(4):456-463. doi: 10.1164/rccm.201604-0861OC. Am J Respir Crit Care Med. 2017. PMID: 27611488 Free PMC article.
511 results