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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. Among authors: schork nj. 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.
Patient perspectives on whole-genome sequencing for undiagnosed diseases.
Boeldt DL, Cheung C, Ariniello L, Darst BF, Topol S, Schork NJ, Philis-Tsimikas A, Torkamani A, Fortmann AL, Bloss CS. Boeldt DL, et al. Among authors: schork nj. Per Med. 2017 Jan;14(1):17-25. doi: 10.2217/pme-2016-0050. Epub 2016 Nov 30. Per Med. 2017. PMID: 29749824
Predicting functional regulatory polymorphisms.
Torkamani A, Schork NJ. Torkamani A, et al. Among authors: schork nj. Bioinformatics. 2008 Aug 15;24(16):1787-92. doi: 10.1093/bioinformatics/btn311. Epub 2008 Jun 18. Bioinformatics. 2008. PMID: 18562267 Free PMC article.
518 results