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Showing 241 - 255 of 591 results
  • He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C,...He MM. (2016). Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records. PLoS One. 11(12):e0167847.
    PubMed ID: 27930734
  • Brothers KB, Holm IA, Childerhose JE, Antommaria AH, Bernhardt BA, Clayton EW,...Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium. (2016 January). When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 168 :226-31.e1.
    PubMed ID: 26477867
  • Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG. (2015 December). Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. J AAPOS. 19(6):562-4.
    PubMed ID: 26691042
  • Borthwick KM, Smelser DT, Bock JA, Elmore JR, Ryer EJ, Ye Z,...Tromp G [including Linneman JG, Peissig PL.] (2015 December). ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow. Int J Biomed Data Min. 4(1):pii: 113.
    PubMed ID: 27054044
  • Dahlin A, Denny J, Roden DM, Brilliant MH, Ingram C, Kitchner TE,...Wu AC [including Linneman JG.] (2015 December). CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids. Immun Inflamm Dis. 3(4):350-9.
    PubMed ID: 26734457
  • Mo H, Thompson WK, Rasmussen LV, Pacheco JA, Jiang G, Kiefer R,...Harris PA [including Peissig PL, Kitchner TE.] (2015 November 5). Desiderata for computable representations of electronic health records-driven phenotype algorithms. J Am Med Inform Assoc. 22(6):1220-30..
    PubMed ID: 26342218
  • Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM,...Tang S [including McPherson E.] (2015 November 5). Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. BMC Med. Genet.. 16 :102.
    PubMed ID: 26542245
  • Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA,...Overby CL [including Peissig PL.] (2015 November 3). CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 22(6):1231-42..
    PubMed ID: 26142422
  • Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR,...Jarvik GP [including Kitchner TE, Brilliant MH.] (2015 October 1). Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. Am J Hum Genet. 97(4):512-20.
    PubMed ID: 26365338
  • Namjou B, Marsolo K, Lingren T, Ritchie MD, Verma SS, Cobb BL,...Harley JB [including Kitchner TE, Brilliant MH, Peissig PL.] (2015 September 28). A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 10(9):e0138677.
    PubMed ID: 26413716
  • Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG,...Starren J [including Peissig P.] (2015 September 28). Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 6 :50.
    PubMed ID: 26605115
  • Glurich I, Acharya A, Brilliant MH, Shukla SK. Progress in oral personalized medicine: contribution of 'omics'. J Oral Microbiol. 2015 September 4; 7 :28223.
    PubMed ID: 26344171
  • Bielinski SJ, Pathak J, Carrell DS, Takahashi PY, Olson JE, Larson NB,...Roger VL [including Dart RA, Peissig P, Linneman JG.] (2015 August 21). A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network. J Cardiovasc Transl Res. 8 :475-83.
    PubMed ID: 26195183
  • Wu Y, Abbey CK, Chen X, Liu J, Page DC, Alagoz O,...Burnside ES [including Peissig P, Onitilo AA.] (2015 August 17). Developing a utility decision framework to evaluate predictive models in breast cancer risk estimation. Journal of Medical Imaging. 2(4):041005.
  • O'Brien S, Schrodi SJ, Brilliant MH, Virani S, Brautbar A. (2015 August). Differential Lipid Response to Statins is Associated with Variants in the BUD13-APOA5 Gene Region. J Cardiovasc Pharmacol.. 66(2):183-8..
    PubMed ID: 25900265