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Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
Wiley LK, Shortt JA, Roberts ER, Lowery J, Kudron E, Lin M, Mayer D, Wilson M, Brunetti TM, Chavan S, Phang TL, Pozdeyev N, Lesny J, Wicks SJ, Moore ET, Morgenstern JL, Roff AN, Shalowitz EL, Stewart A, Williams C, Edelmann MN, Hull M, Patton JT, Axell L, Ku L, Lee YM, Jirikowic J, Tanaka A, Todd E, White S, Peterson B, Hearst E, Zane R, Greene CS, Mathias R, Coors M, Taylor M, Ghosh D, Kahn MG, Brooks IM, Aquilante CL, Kao D, Rafaels N, Crooks KR, Hess S, Barnes KC, Gignoux CR. Wiley LK, et al. Among authors: rafaels n. Am J Hum Genet. 2024 Jan 4;111(1):11-23. doi: 10.1016/j.ajhg.2023.12.001. Am J Hum Genet. 2024. PMID: 38181729 Free PMC article.
COVID-19 Mortality in the Colorado Center for Personalized Medicine Biobank.
Brice AN, Vanderlinden LA, Marker KM, Mayer D, Lin M, Rafaels N, Shortt JA, Romero A, Lowery JT, Gignoux CR, Johnson RK. Brice AN, et al. Among authors: rafaels n. Int J Environ Res Public Health. 2023 Jan 29;20(3):2368. doi: 10.3390/ijerph20032368. Int J Environ Res Public Health. 2023. PMID: 36767733 Free PMC article.
Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant.
Pozdeyev N, Dighe M, Barrio M, Raeburn C, Smith H, Fisher M, Chavan S, Rafaels N, Shortt JA, Lin M, Leu MG, Clark T, Marshall C, Haugen BR, Subramanian D, Crooks K, Gignoux C, Cohen T. Pozdeyev N, et al. Among authors: rafaels n. J Clin Endocrinol Metab. 2024 Jan 18;109(2):402-412. doi: 10.1210/clinem/dgad530. J Clin Endocrinol Metab. 2024. PMID: 37683082
Characterizing substructure via mixture modeling in large-scale genetic summary statistics.
Stoneman HR, Price A, Scribner Trout N, Lamont R, Tifour S, Pozdeyev N; Colorado Center for Personalized Medicine; Crooks K, Lin M, Rafaels N, Gignoux CR, Marker KM, Hendricks AE. Stoneman HR, et al. Among authors: rafaels n. bioRxiv [Preprint]. 2024 May 13:2024.01.29.577805. doi: 10.1101/2024.01.29.577805. bioRxiv. 2024. PMID: 38766180 Free PMC article. Preprint.
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
Lo Faro V, Bhattacharya A, Zhou W, Zhou D, Wang Y, Läll K, Kanai M, Lopera-Maya E, Straub P, Pawar P, Tao R, Zhong X, Namba S; Global Biobank Meta-analysis Initiative; Sanna S, Nolte IM, Okada Y, Ingold N, MacGregor S, Snieder H, Surakka I, Shortt J, Gignoux C, Rafaels N, Crooks K, Verma A, Verma SS, Guare L, Rader DJ, Willer C, Martin AR, Brantley MA Jr, Gamazon ER, Jansonius NM, Joos K, Cox NJ, Hirbo J. Lo Faro V, et al. Among authors: rafaels n. Cell Rep Med. 2024 Feb 20;5(2):101430. doi: 10.1016/j.xcrm.2024.101430. Cell Rep Med. 2024. PMID: 38382466 Free PMC article.
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.
Recto K, Kachroo P, Huan T, Van Den Berg D, Lee GY, Bui H, Lee DH, Gereige J, Yao C, Hwang SJ, Joehanes R, Weiss ST; NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium; O'Connor GT, Levy D, DeMeo DL. Recto K, et al. EBioMedicine. 2023 Sep;95:104758. doi: 10.1016/j.ebiom.2023.104758. Epub 2023 Aug 18. EBioMedicine. 2023. PMID: 37598461 Free PMC article.
Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.
Gao L, Rafaels N, Dudenkov TM, Damarla M, Damico R, Maloney JP, Moss M, Martin GS, Sevransky J, Shanholtz C, Herr DL, Garcia JGN, Hernandez-Beeftink T, Villar J, Flores C, Beaty TH, Brower R, Hassoun PM, Barnes KC. Gao L, et al. Among authors: rafaels n. Respir Res. 2023 Jul 6;24(1):177. doi: 10.1186/s12931-023-02481-8. Respir Res. 2023. PMID: 37415141 Free PMC article.
Author Correction: Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Jul;619(7970):E47. doi: 10.1038/s41586-023-06375-z. Nature. 2023. PMID: 37400552 No abstract available.
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
128 results