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2011 1
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27 results

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Page 1
High-Definition Medicine.
Torkamani A, Andersen KG, Steinhubl SR, Topol EJ. Torkamani A, et al. Cell. 2017 Aug 24;170(5):828-843. doi: 10.1016/j.cell.2017.08.007. Cell. 2017. PMID: 28841416 Free PMC article. Review.
Symptom-driven idiopathic disease gene identification.
Molparia B, Pham PH, Torkamani A. Molparia B, et al. Genet Med. 2015 Nov;17(11):859-65. doi: 10.1038/gim.2014.202. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590976 Free PMC article.
Molecular Autopsy for Sudden Unexpected Death.
Torkamani A, Muse ED, Spencer EG, Rueda M, Wagner GN, Lucas JR, Topol EJ. Torkamani A, et al. JAMA. 2016 Oct 11;316(14):1492-1494. doi: 10.1001/jama.2016.11445. JAMA. 2016. PMID: 27727376 Free PMC article. No abstract available.
High-performance web services for querying gene and variant annotation.
Xin J, Mark A, Afrasiabi C, Tsueng G, Juchler M, Gopal N, Stupp GS, Putman TE, Ainscough BJ, Griffith OL, Torkamani A, Whetzel PL, Mungall CJ, Mooney SD, Su AI, Wu C. Xin J, et al. Genome Biol. 2016 May 6;17(1):91. doi: 10.1186/s13059-016-0953-9. Genome Biol. 2016. PMID: 27154141 Free PMC article.
Whole-Genome Sequencing of a Healthy Aging Cohort.
Erikson GA, Bodian DL, Rueda M, Molparia B, Scott ER, Scott-Van Zeeland AA, Topol SE, Wineinger NE, Niederhuber JE, Topol EJ, Torkamani A. Erikson GA, et al. Cell. 2016 May 5;165(4):1002-11. doi: 10.1016/j.cell.2016.03.022. Epub 2016 Apr 21. Cell. 2016. PMID: 27114037 Free PMC article.
A genome sequencing program for novel undiagnosed diseases.
Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A. Bloss CS, et al. Genet Med. 2015 Dec;17(12):995-1001. doi: 10.1038/gim.2015.21. Epub 2015 Mar 19. Genet Med. 2015. PMID: 25790160 Free PMC article.
27 results