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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Schaaf CP, et al. Among authors: caskey ct. Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076603 Free PMC article.
Personalized genomic disease risk of volunteers.
Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT. Gonzalez-Garay ML, et al. Among authors: caskey ct. Proc Natl Acad Sci U S A. 2013 Oct 15;110(42):16957-62. doi: 10.1073/pnas.1315934110. Epub 2013 Sep 30. Proc Natl Acad Sci U S A. 2013. PMID: 24082139 Free PMC article. Clinical Trial.
Adult genetic risk screening.
Caskey CT, Gonzalez-Garay ML, Pereira S, McGuire AL. Caskey CT, et al. Annu Rev Med. 2014;65:1-17. doi: 10.1146/annurev-med-111212-144716. Epub 2013 Nov 4. Annu Rev Med. 2014. PMID: 24188662 Review.
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.
Guo L, Milburn MV, Ryals JA, Lonergan SC, Mitchell MW, Wulff JE, Alexander DC, Evans AM, Bridgewater B, Miller L, Gonzalez-Garay ML, Caskey CT. Guo L, et al. Among authors: caskey ct. Proc Natl Acad Sci U S A. 2015 Sep 1;112(35):E4901-10. doi: 10.1073/pnas.1508425112. Epub 2015 Aug 17. Proc Natl Acad Sci U S A. 2015. PMID: 26283345 Free PMC article.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A. Long T, et al. Among authors: caskey ct. Nat Genet. 2017 Apr;49(4):568-578. doi: 10.1038/ng.3809. Epub 2017 Mar 6. Nat Genet. 2017. PMID: 28263315
347 results