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Showing 226 - 240 of 582 results
  • Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA,...Roden DM [including Kitchner TE, He MM, Brilliant MH.] (2016 January 5). Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 315(1):47-57.
    PubMed ID: 26746457
  • Ye Z, Kadolph C, Strenn R, Wall D, McPherson EW, Lin S. (2016 January). WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data. Comput Biol Med. 68 :165-9..
  • Fan J, Wu Y, Yuan M, Page D, Liu J, Ong I,...Burnside E [including Peissig P.] (2016). Structure-leveraged methods in breast cancer risk prediction. Journal of Machine Learning Research.
  • Verma A, Verma SS, Pendergrass SA, Crawford DC, Crosslin DR, Kuivaniemi H,...Tromp G [including Peissig P, Hebbring S.] (2016). eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. BMC Med Genomics. 9 Suppl 1 :32.
    PubMed ID: 27535653
  • Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O,...Semina EV [including Kitchner TE.] (2016). Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Mol Vis. 22 :1229-1238.
    PubMed ID: 27777502
  • 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