Publications

The network has published hundreds of articles that have been cited in a wide range of scientific journals. Many of these articles have also impacted publications in other fields. 

Network publication policy
Grant acknowledgement text

eMERGE Publications

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Crosslin DR, et al. The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. Genetic epidemiology. 2018 Oct 8;.

El Rouby N, McDonough CW, Gong Y, McClure LA, Johnson JA, et al. Genome-wide association analysis of common genetic variants of resistant hypertension. The pharmacogenomics journal. 2018 Sep 20;.

Hasnie AA, Kumbamu A, Safarova MS, Caraballo PJ, Kullo IJ. A Clinical Decision Support Tool for Familial Hypercholesterolemia Based on Physician Input. Mayo Clinic proceedings. Innovations, quality & outcomes. 2018 Jun;2(2):103-112.

Mosley JD, Feng Q, Wells QS, Van Driest SL, Roden DM, et al. A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers. Nature communications. 2018 Aug 30;9(1):3522.

Cabana-Domínguez J, Arenas C, Cormand B, Fernàndez-Castillo N. MiR-9, miR-153 and miR-124 are down-regulated by acute exposure to cocaine in a dopaminergic cell model and may contribute to cocaine dependence. Translational psychiatry. 2018 Aug 30;8(1):173.

Wang L, Pittman KJ, Barker JR, Salinas RE, Ko DC, et al. An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. Cell host & microbe. 2018 Aug 8;24(2):308-323.e6.

Ramsey LB, Prows CA, Zhang K, Saldaña SN, Glauser TA. Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine. Clinical pharmacology and therapeutics. 2018 Jul 29;.

Chaudhry AP, Afzal N, Abidian MM, Mallipeddi VP, Arruda-Olson AM, et al. Innovative Informatics Approaches for Peripheral Artery Disease: Current State and Provider Survey of Strategies for Improving Guideline-Based Care. Mayo Clinic proceedings. Innovations, quality & outcomes. 2018 Jun;2(2):129-136.

Patel Z, Lu X, Miller D, Forney CR, Kottyan LC, et al. A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus. Human molecular genetics. 2018 Apr 18;.

Prasser F, Gaupp J, Wan Z, Xia W, Malin B. An Open Source Tool for Game Theoretic Health Data De-Identification. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2017;2017:1430-1439.

Khawaja AP, Cooke Bailey JN, Wareham NJ, Scott RA, NEIGHBORHOOD Consortium., et al. Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Nature genetics. 2018 Jun;50(6):778-782.

Hu Y, Raffield LM, Polfus LM, Moscati A, NHLBI Trans-Omics for Precision Medicine Consortium., et al. A common TCN1 loss-of-function variant is associated with lower vitamin B12 concentration in African Americans. Blood. 2018 Jun 21;131(25):2859-2863.

Wei WQ, Li X, Feng Q, Kubo M, Denny JC, et al. LPA Variants are Associated with Residual Cardiovascular Risk in Patients Receiving Statins. Circulation. 2018 Apr 27;.

Bastarache L, Hughey JJ, Hebbring S, Marlo J, Denny JC, et al. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science (New York, N.Y.). 2018 Mar 16;359(6381):1233-1239.

Lingren T, Sadhasivam S, Zhang X, Marsolo K. Electronic medical records as a replacement for prospective research data collection in postoperative pain and opioid response studies. International journal of medical informatics. 2018 Mar;111:45-50.

McCarty CA, Fuchs MJ, Lamb A, Conway P. How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration? Optometry and vision science : official publication of the American Academy of Optometry. 2018 Mar;95(3):166-170.

Bailey JNC, Gharahkhani P, Kang JH, Butkiewicz M, Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium., et al. Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Investigative ophthalmology & visual science. 2018 Feb 1;59(2):629-636.

Sutton EJ, Kullo IJ, Sharp RR. Making pretest genomic counseling optional: lessons from the RAVE study. Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Feb 1;.

Roden DM, Van Driest SL, Mosley JD, Wells QS, Peterson JF. Benefit of Preemptive Pharmacogenetic Information on Clinical Outcome. Clinical pharmacology and therapeutics. 2018 May;103(5):787-794.

Safarova MS, Kullo IJ. Lessening the Burden of Familial Hypercholesterolemia Using Health Information Technology. Circulation research. 2018 Jan 5;122(1):26-27.

Fossey R, Kochan D, Winkler E, Pacyna JE, Kullo IJ, et al. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. Journal of personalized medicine. 2018 Jan 3;8(1).

Mitchell SL, Neininger AC, Bruce CN, Chocron IM, Brantley MA Jr, et al. Mitochondrial Haplogroups Modify the Effect of Diabetes Duration and HbA1c on Proliferative Diabetic Retinopathy Risk in Patients With Type 2 Diabetes. Investigative ophthalmology & visual science. 2017 Dec 1;58(14):6481-6488.

Hall MA, Wallace J, Lucas A, Kim D, Ritchie MD, et al. PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. Nature communications. 2017 Oct 27;8(1):1167.

Arruda-Olson AM, Moussa Pacha H, Afzal N, Abram S, Kullo IJ, et al. Burden of hospitalization in clinically diagnosed peripheral artery disease: A community-based study. Vascular medicine (London, England). 2018 Feb;23(1):23-31.

Carter TC, Hebbring SJ, Liu J, Mosley JD, Belongia EA, et al. Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission. Journal of medical virology. 2018 Mar;90(3):436-446.

de Andrade M, Armasu SM, McCauley BM, Petterson TM, Heit JA. Identification of Genetic Interaction with Risk Factors Using a Time-To-Event Model. International journal of environmental research and public health. 2017 Oct 15;14(10).

Xia W, Wan Z, Yin Z, Gaupp J, Malin BA. It's all in the timing: calibrating temporal penalties for biomedical data sharing. Journal of the American Medical Informatics Association : JAMIA. 2018 Jan 1;25(1):25-31.

Scott SA, Owusu Obeng A, Botton MR, Yang Y, Schadt EE, et al. Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai. Pharmacogenomics. 2017 Oct;18(15):1381-1386.

Li B, Vorobeychik Y, Li M, Malin B. Scalable Iterative Classification for Sanitizing Large-Scale Datasets. IEEE transactions on knowledge and data engineering. 2017 Mar 1;29(3):698-711.

Chang X, Zhao Y, Hou C, Glessner J, Hakonarson H, et al. Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Nature communications. 2017 Sep 18;8(1):569.

Peissig P, Schwei KM, Kadolph C, Finamore J, Brilliant MH, et al. Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application. JMIR medical informatics. 2017 Sep 13;5(3):e27.

Weng LC, Lunetta KL, Müller-Nurasyid M, Smith AV, Lubitz SA, et al. Genetic Interactions with Age, Sex, Body Mass Index, and Hypertension in Relation to Atrial Fibrillation: The AFGen Consortium. Scientific reports. 2017 Sep 12;7(1):11303.

Liu J, Zhao R, Ye Z, Frey AJ, Hebbring SJ. Relationship of SULT1A1 copy number variation with estrogen metabolism and human health. The Journal of steroid biochemistry and molecular biology. 2017 Nov;174:169-175.

Hellwege JN, Jeff JM, Wise LA, Gallagher CS, Velez Edwards DR, et al. A multi-stage genome-wide association study of uterine fibroids in African Americans. Human genetics. 2017 Oct;136(10):1363-1373.

Brown SN, Jouni H, Marroush TS, Kullo IJ. Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and Sharing: The MI-GENES Study (Myocardial Infarction Genes). Circulation. Cardiovascular genetics. 2017 Aug;10(4).

Holzinger ER, Verma SS, Moore CB, Hall M, Ritchie MD, et al. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData mining. 2017;10:25.

St Sauver JL, Olson JE, Roger VL, Nicholson WT, Bielinski SJ, et al. CYP2D6 phenotypes are associated with adverse outcomes related to opioid medications. Pharmacogenomics and personalized medicine. 2017;10:217-227.

García-González X, López-Fernández LA. Using pharmacogenetics to prevent severe adverse reactions to capecitabine. Pharmacogenomics. 2017 Aug;18(13):1199-1213.

Myers MF, Zhang X, McLaughlin B, Kissell D, Prows CA. Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. Pharmacogenomics. 2017 Aug;18(13):1199-1213.

Cook-Sather SD, Li J, Hakonarson H. Pain versus analgesia: TAOK3 as a pharmacogene. Pain. 2017 Aug;158(8):1622-1623.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Schellenberg GD, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature genetics. 2017 Sep;49(9):1373-1384.

Ye Z, Austin E, Schaid DJ, Bailey KR, Kullo IJ. A DAB2IP genotype: sex interaction is associated with abdominal aortic aneurysm expansion. Journal of investigative medicine : the official publication of the American Federation for Clinical Research. 2017 Oct;65(7):1077-1082.

Karnes JH, Shaffer CM, Cronin R, Bastarache L, Roden DM, et al. Influence of Human Leukocyte Antigen (HLA) Alleles and Killer Cell Immunoglobulin-Like Receptors (KIR) Types on Heparin-Induced Thrombocytopenia (HIT). Pharmacotherapy. 2017 Sep;37(9):1164-1171.

Sileshi B, Newton MW, Kiptanui J, Shotwell MS, McEvoy MD, et al. Monitoring Anesthesia Care Delivery and Perioperative Mortality in Kenya Utilizing a Provider-driven Novel Data Collection Tool. Anesthesiology. 2017 Aug;127(2):250-271.

Hylind R, Smith M, Rasmussen-Torvik L, Aufox S. Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results. Journal of community genetics. 2018 Jan;9(1):19-26.

Rohrer Vitek CR, Abul-Husn NS, Connolly JJ, Hartzler AL, Prows CA, et al. Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience. Pharmacogenomics. 2017 Jul;18(10):1013-1025.

Feng Q, Wei WQ, Levinson RT, Mosley JD, Stein CM. Replication and fine-mapping of genetic predictors of lipid traits in African-Americans. Journal of human genetics. 2017 Oct;62(10):895-901.

Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Scott SA, et al. Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. The Journal of molecular diagnostics : JMD. 2017 Jul;19(4):561-566.

Duncan L, Yilmaz Z, Gaspar H, Walters R, Bulik CM, et al. Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa. The American journal of psychiatry. 2017 Sep 1;174(9):850-858.

Karnes JH, Bastarache L, Shaffer CM, Gaudieri S, Denny JC, et al. Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. Science translational medicine. 2017 May 10;9(389).

Mosley JD, Shoemaker MB, Wells QS, Darbar D, Roden DM, et al. Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. Circulation. Cardiovascular genetics. 2017 Apr;10(2).

Giudicessi JR, Kullo IJ, Ackerman MJ. Precision Cardiovascular Medicine: State of Genetic Testing. Mayo Clinic proceedings. 2017 Apr;92(4):642-662.

He KY, Wang H, Cade BE, Nandakumar P, Zhu X, et al. Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure. PLoS genetics. 2017 Mar;13(3):e1006678.

Nadkarni GN, Galarneau G, Ellis SB, Nadukuru R, Bottinger EP, et al. Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. Journal of the American College of Cardiology. 2017 Mar 28;69(12):1564-1574.

Bregman JA, Herren DJ, Estopinal CB, Chocron IM, Samuels DC. Mitochondrial Haplogroups Affect Severity But Not Prevalence of Diabetic Retinopathy. Investigative ophthalmology & visual science. 2017 Feb 1;58(2):1346-1351.

Takahashi PY, Ryu E, Pathak J, Jenkins GD, Bielinski SJ. Increased risk of hospitalization for ultrarapid metabolizers of cytochrome P450 2D6. Pharmacogenomics and personalized medicine. 2017;10:39-47.

Mukherjee S, Russell JC, Carr DT, Burgess JD, Crane PK, et al. Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2017 Oct;13(10):1133-1142.

Telomeres Mendelian Randomization Collaboration., Haycock PC, Burgess S, Nounu A, Davey Smith G, et al. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA oncology. 2017 May 1;3(5):636-651.

Horowitz CR, Ferryman K, Negron R, Sabin T, Robinson M. Race, Genomics and Chronic Disease: What Patients with African Ancestry Have to Say. Journal of health care for the poor and underserved. 2017;28(1):248-260.

Dumitrescu L, Ritchie MD, Denny JC, El Rouby NM, Crawford DC, et al. Genome-wide study of resistant hypertension identified from electronic health records. PloS one. 2017;12(2):e0171745.

Heit JA, Armasu SM, McCauley BM, Kullo IJ, de Andrade M, et al. Identification of unique venous thromboembolism-susceptibility variants in African-Americans. Thrombosis and haemostasis. 2017 Apr 3;117(4):758-768.

Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Holm IA, et al. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. American journal of human genetics. 2017 Mar 2;100(3):414-427.

Afzal N, Sohn S, Abram S, Scott CG, Arruda-Olson AM. Mining peripheral arterial disease cases from narrative clinical notes using natural language processing. Journal of vascular surgery. 2017 Jun;65(6):1753-1761.

Jun GR, Chung J, Mez J, Barber R, Farrer LA, et al. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2017 Jul;13(7):727-738.

Sleiman PMA, March M, Nguyen K, Tian L, Hakonarson H. Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy. Human mutation. 2017 May;38(5):507-510.

Safarova MS, Klee EW, Baudhuin LM, Winkler EM, Kullo IJ. Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals. European journal of human genetics : EJHG. 2017 Apr;25(4):410-415.

Hoffmann TJ, Passarelli MN, Graff RE, Emami NC, Witte JS, et al. Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. Nature communications. 2017 Jan 31;8:14248.

Freimuth RR, Formea CM, Hoffman JM, Matey E, Boyce RD. Implementing Genomic Clinical Decision Support for Drug-Based Precision Medicine. CPT: pharmacometrics & systems pharmacology. 2017 Mar;6(3):153-155.

Karol SE, Larsen E, Cheng C, Cao X, Relling MV, et al. Genetics of ancestry-specific risk for relapse in acute lymphoblastic leukemia. Leukemia. 2017 Jun;31(6):1325-1332.

Himes P, Kauffman TL, Muessig KR, Amendola LM, Goddard KAB, et al. Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Jul;19(7):803-808.

Wan Z, Vorobeychik Y, Xia W, Clayton EW, Malin B. Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach. American journal of human genetics. 2017 Feb 2;100(2):316-322.

Brown SA, Jouni H, Marroush TS, Kullo IJ. Disclosing Genetic Risk for Coronary Heart Disease: Attitudes Toward Personal Information in Health Records. American journal of preventive medicine. 2017 Apr;52(4):499-506.

Olson JE, Rohrer Vitek CR, Bell EJ, McGree ME, Bielinski SJ. Participant-perceived understanding and perspectives on pharmacogenomics: the Mayo Clinic RIGHT protocol (Right Drug, Right Dose, Right Time). Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Jul;19(7):819-825.

Jouni H, Haddad RA, Marroush TS, Brown SA, Kullo IJ, et al. Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial. Journal of investigative medicine : the official publication of the American Federation for Clinical Research. 2017 Mar;65(3):681-688.

Moriyama B, Obeng AO, Barbarino J, Penzak SR, Walsh TJ, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy. Clinical pharmacology and therapeutics. 2017 Jul;102(1):45-51.

Assad TR, Hemnes AR, Larkin EK, Glazer AM, Brittain EL, et al. Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension. Journal of the American College of Cardiology. 2016 Dec 13;68(23):2525-2536.

Jones GT, Tromp G, Kuivaniemi H, Gretarsdottir S, Bown MJ, et al. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. Circulation research. 2017 Jan 20;120(2):341-353.

Cavallari LH, Obeng AO. Genetic Determinants of P2Y12 Inhibitors and Clinical Implications. Interventional cardiology clinics. 2017 Jan;6(1):141-149.

Smith ME, Sanderson SC, Brothers KB, Myers MF, Holm IA, et al. Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. BMC medical research methodology. 2016 Nov 24;16(1):162.

Schildcrout JS, Denny JC, Roden DM. On the Potential of Preemptive Genotyping Towards Preventing Medication-Related Adverse Events: Results from the South Korean National Health Insurance Database. Drug safety. 2017 Jan;40(1):1-2.

Kim T, Havighurst T, Kim K, Hebbring SJ, Spiegelman VS. RNA-Binding Protein IGF2BP1 in Cutaneous Squamous Cell Carcinoma. The Journal of investigative dermatology. 2017 Mar;137(3):772-775.

Jackson KL, Mbagwu M, Pacheco JA, Baldridge AS, Kho AN, et al. Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies. BMC infectious diseases. 2016 Nov 17;16(1):684.

Mosley JD, van Driest SL, Wells QS, Shaffer CM, Roden DM, et al. Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. Circulation. Cardiovascular genetics. 2016 Dec;9(6):521-530.

Bielinski SJ, St Sauver JL, Olson JE, Wieland ML, Roger VL, et al. Are patients willing to incur out-of-pocket costs for pharmacogenomic testing? The pharmacogenomics journal. 2017 Jan;17(1):1-3.

Pasquale LR, Aschard H, Kang JH, Bailey JN, Wiggs JL, et al. Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample. Menopause (New York, N.Y.). 2017 Feb;24(2):150-156.

Lu R, Munroe ME, Guthridge JM, Bean KM, James JA. Dysregulation of innate and adaptive serum mediators precedes systemic lupus erythematosus classification and improves prognostic accuracy of autoantibodies. Journal of autoimmunity. 2016 Nov;74:182-193.

Shekhar A, Lin X, Liu FY, Zhang J, Park DS, et al. Transcription factor ETV1 is essential for rapid conduction in the heart. The Journal of clinical investigation. 2016 Dec 1;126(12):4444-4459.

Cutting E, Banchero M, Beitelshees AL, Cimino JJ, Overby CL, et al. User-centered design of multi-gene sequencing panel reports for clinicians. Journal of biomedical informatics. 2016 Oct;63:1-10.

Cook-Sather SD, Adamson PC, Li J, Hakonarson H. CYP2B6*6 or Not CYP2B6*6-That Remains a Question for Precision Medicine and Ketamine! Anesthesiology. 2016 Dec;125(6):1085-1087.

Brady CC, Thaker VV, Lingren T, Woo JG, Crimmins NA, et al. Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. International journal of pediatrics. 2016;2016:4068582.

Owusu D, Pan Y, Xie C, Harirforoosh S, Wang KS. Polymorphisms in PDLIM5 gene are associated with alcohol dependence, type 2 diabetes, and hypertension. Journal of psychiatric research. 2017 Jan;84:27-34.

van Ingen G, Li J, Goedegebure A, Pandey R, Hakonarson H, et al. Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. Nature communications. 2016 Sep 28;7:12792.

Khawaja AP, Cooke Bailey JN, Kang JH, Allingham RR, Wiggs JL, et al. Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Investigative ophthalmology & visual science. 2016 Sep 1;57(11):5046-5052.

Caraballo PJ, Hodge LS, Bielinski SJ, Stewart AK, Weinshilboum RM, et al. Multidisciplinary model to implement pharmacogenomics at the point of care. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Apr;19(4):421-429.

Rasmussen LV, Overby CL, Connolly J, Chute CG, Starren J, et al. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Applied clinical informatics. 2016 Sep 21;7(3):870-82.

Verma SS, Cooke Bailey JN, Lucas A, Bradford Y, NEIGHBOR Consortium., et al. Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PLoS genetics. 2016 Sep;12(9):e1006186.

Liu C, Kraja AT, Smith JA, Brody JA, Chasman DI, et al. Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Nature genetics. 2016 Oct;48(10):1162-70.

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Falk MJ, et al. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. American journal of human genetics. 2016 Oct 6;99(4):802-816.

Almoguera B, Vazquez L, Mentch F, Connolly J, Hakonarson H, et al. Identification of Four Novel Loci in Asthma in European American and African American Populations. American journal of respiratory and critical care medicine. 2017 Feb 15;195(4):456-463.

Postmus I, Warren HR, Trompet S, Arsenault BJ, Krauss RM, et al. Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. Journal of medical genetics. 2016 Dec;53(12):835-845.

. Erratum. Investigative ophthalmology & visual science. 2016 Aug 1;57(10):4528.

Adelsperger S, Prows CA, Myers MF, Perry CL, Lynch JA. Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results. Health communication. 2017 Sep;32(9):1104-1111.

Mo H, Jiang G, Pacheco JA, Kiefer R, Thompson WK. A Decompositional Approach to Executing Quality Data Model Algorithms on the i2b2 Platform. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science. 2016;2016:167-75.

Verma A, Verma SS, Pendergrass SA, Crawford DC, Tromp G, et al. eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. BMC medical genomics. 2016 Aug 12;9 Suppl 1:32.

Carter TC, Rein D, Padberg I, Peter E, Schrodi SJ, et al. Validation of a metabolite panel for early diagnosis of type 2 diabetes. Metabolism: clinical and experimental. 2016 Sep;65(9):1399-408.

Richesson RL, Sun J, Pathak J, Kho AN, Denny JC. Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods. Artificial intelligence in medicine. 2016 Jul;71:57-61.

Teixeira PL, Wei WQ, Cronin RM, Mo H, Denny JC, et al. Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals. Journal of the American Medical Informatics Association : JAMIA. 2017 Jan;24(1):162-171.

Lingren T, Chen P, Bochenek J, Doshi-Velez F, Savova G, et al. Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PloS one. 2016;11(7):e0159621.

Lingren T, Thaker V, Brady C, Namjou B, Crimmins N, et al. Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers. Applied clinical informatics. 2016 Jul 20;7(3):693-706.

Freedman B, Martinez C, Katholing A, Rietbrock S. Residual Risk of Stroke and Death in Anticoagulant-Treated Patients With Atrial Fibrillation. JAMA cardiology. 2016 Jun 1;1(3):366-8.

van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, de Bakker PI, et al. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. Journal of the American Heart Association. 2016 Jul 14;5(7).

Obeng AO, Kaszemacher T, Abul-Husn NS, Gottesman O, Scott SA, et al. Implementing Algorithm-Guided Warfarin Dosing in an Ethnically Diverse Patient Population Using Electronic Health Records and Preemptive CYP2C9 and VKORC1 Genetic Testing. Clinical pharmacology and therapeutics. 2016 Nov;100(5):427-430.

Jiang G, Kiefer RC, Rasmussen LV, Solbrig HR, Pathak J, et al. Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution. Journal of biomedical informatics. 2016 Aug;62:232-42.

Eicher JD, Chami N, Kacprowski T, Nomura A, Johnson AD, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. American journal of human genetics. 2016 Jul 7;99(1):40-55.

Chouraki V, Reitz C, Maury F, Bis JC, International Genomics of Alzheimer’s Project., et al. Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease. Journal of Alzheimer's disease : JAD. 2016 Jun 18;53(3):921-32.

Liu CT, Raghavan S, Maruthur N, Kabagambe EK, Meigs JB, et al. Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. American journal of human genetics. 2016 Jul 7;99(1):56-75.

Liu J, Ye Z, Mayer JG, Hoch BA, Hebbring SJ, et al. Phenome-wide association study maps new diseases to the human major histocompatibility complex region. Journal of medical genetics. 2016 Oct;53(10):681-9.

Safarova MS, Kullo IJ. My Approach to the Patient With Familial Hypercholesterolemia. Mayo Clinic proceedings. 2016 Jun;91(6):770-86.

Homburger JR, Green EM, Caleshu C, Sunitha MS, Ashley EA, et al. Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. Proceedings of the National Academy of Sciences of the United States of America. 2016 Jun 14;113(24):6701-6.

Green RC, Goddard KAB, Jarvik GP, Amendola LM, CSER Consortium., et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American journal of human genetics. 2016 Jun 2;98(6):1051-1066.

Li R, Dudek SM, Kim D, Hall MA, Ritchie MD, et al. Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network. BioData mining. 2016;9:18.

Denny JC, Bastarache L, Roden DM. Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. Annual review of genomics and human genetics. 2016 Aug 31;17:353-73.

Mosley JD, Witte JS, Larkin EK, Bastarache L, Denny JC, et al. Identifying genetically driven clinical phenotypes using linear mixed models. Nature communications. 2016 Apr 25;7:11433.

Mez J, Mukherjee S, Thornton T, Fardo DW, Alzheimer's Disease Genetics Consortium (ADGC)., et al. The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable. Neurobiology of aging. 2016 May;41:115-121.

Joshi AD, Andersson C, Buch S, Stender S, Johnson AD, et al. Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. Gastroenterology. 2016 Aug;151(2):351-363.e28.

Munroe ME, Lu R, Zhao YD, Fife DA, James JA, et al. Altered type II interferon precedes autoantibody accrual and elevated type I interferon activity prior to systemic lupus erythematosus classification. Annals of the rheumatic diseases. 2016 Nov;75(11):2014-2021.

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Xu H, AbdelRahman S, Lu Y, Denny JC, Doan S. Applying semantic-based probabilistic context-free grammar to medical language processing--a preliminary study on parsing medication sentences. Journal of biomedical informatics. 2011 Dec;44(6):1068-75.

Lemke AA, Smith ME, Wolf WA, Trinidad SB, GRRIP Consortium.. Broad data sharing in genetic research: views of institutional review board professionals. IRB. 2011 May-Jun;33(3):1-5.

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Brothers KB. Biobanking in pediatrics: the human nonsubjects approach. Personalized medicine. 2011 Jan;8(1):79.

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Tatonetti NP, Denny JC, Murphy SN, Fernald GH, Altman RB, et al. Detecting drug interactions from adverse-event reports: interaction between paroxetine and pravastatin increases blood glucose levels. Clinical pharmacology and therapeutics. 2011 Jul;90(1):133-42.

Pathak J, Wang J, Kashyap S, Basford M, Chute CG. Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience. Journal of the American Medical Informatics Association : JAMIA. 2011 Jul-Aug;18(4):376-86.

Turner SD, Berg RL, Linneman JG, Peissig PL, Wilke RA. Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PloS one. 2011 May 11;6(5):e19586.

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Jiang M, Chen Y, Liu M, Rosenbloom ST, Xu H. A study of machine-learning-based approaches to extract clinical entities and their assertions from discharge summaries. Journal of the American Medical Informatics Association : JAMIA. 2011 Sep-Oct;18(5):601-6.

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Edwards KL, Lemke AA, Trinidad SB, Lewis SM, Wiesner GL. Attitudes toward genetic research review: results from a survey of human genetics researchers. Public health genomics. 2011;14(6):337-45.

Roden DM. Personalized medicine and the genotype-phenotype dilemma. Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing. 2011 Jun;31(1):17-23.

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Xu H, Doan S, Birdwell KA, Cowan JD, Denny JC. An automated approach to calculating the daily dose of tacrolimus in electronic health records. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science. 2010 Mar 1;2010:71-5.

Wei WQ, Tao C, Jiang G, Chute CG. A high throughput semantic concept frequency based approach for patient identification: a case study using type 2 diabetes mellitus clinical notes. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2010 Nov 13;2010:857-61.

Tao C, Wei WQ, Solbrig HR, Savova G, Chute CG. CNTRO: A Semantic Web Ontology for Temporal Relation Inferencing in Clinical Narratives. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2010 Nov 13;2010:787-91.

Tamersoy A, Loukides G, Denny JC, Malin B. Anonymization of administrative billing codes with repeated diagnoses through censoring. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2010 Nov 13;2010:782-6.

Savova GK, Fan J, Ye Z, Murphy SP, Kullo IJ. Discovering peripheral arterial disease cases from radiology notes using natural language processing. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2010 Nov 13;2010:722-6.

Pathak J, Richesson RL. Use of standard drug vocabularies in clinical research: a case study in pediatrics. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2010 Nov 13;2010:607-11.

McCarty CA, Chisholm RL, Chute CG, Kullo IJ, eMERGE Team., et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC medical genomics. 2011 Jan 26;4:13.

Knopman DS, Petersen RC, Rocca WA, Larson EB, Ganguli M. Passive case-finding for Alzheimer's disease and dementia in two U.S. communities. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2011 Jan;7(1):53-60.

Trinidad SB, Fullerton SM, Ludman EJ, Jarvik GP, Burke W. Research ethics. Research practice and participant preferences: the growing gulf. Science (New York, N.Y.). 2011 Jan 21;331(6015):287-8.

Wilke RA, Xu H, Denny JC, Roden DM, Savova G. The emerging role of electronic medical records in pharmacogenomics. Clinical pharmacology and therapeutics. 2011 Mar;89(3):379-86.

Turner S, Armstrong LL, Bradford Y, Carlson CS, Ritchie MD, et al. Quality control procedures for genome-wide association studies. Current protocols in human genetics. 2011 Jan;Chapter 1:Unit1.19.

Feng Q, Jiang L, Berg RL, Antonik M, Wilke RA. A common CNR1 (cannabinoid receptor 1) haplotype attenuates the decrease in HDL cholesterol that typically accompanies weight gain. PloS one. 2010 Dec 31;5(12):e15779.

National Heart, Lung, and Blood Institute working group., Fabsitz RR, McGuire A, Sharp RR, Burke GL, et al. Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circulation. Cardiovascular genetics. 2010 Dec;3(6):574-80.

Holzinger ER, Buchanan CC, Dudek SM, Torstenson EC, Ritchie MD. Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects. Genetic and Evolutionary Computation Conference : [proceedings]. Genetic and Evolutionary Computation Conference. 2010;12:203-210.

Wilke RA. High-density lipoprotein (HDL) cholesterol: leveraging practice-based biobank cohorts to characterize clinical and genetic predictors of treatment outcome. The pharmacogenomics journal. 2011 Jun;11(3):162-73.

Ramirez AH, Schildcrout JS, Blakemore DL, Masys DR, Denny JC. Modulators of normal electrocardiographic intervals identified in a large electronic medical record. Heart rhythm. 2011 Feb;8(2):271-7.

Denny JC, Ritchie MD, Crawford DC, Schildcrout JS, Roden DM. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation. 2010 Nov 16;122(20):2016-21.

Pathak J, Peters L, Chute CG, Bodenreider O. Comparing and evaluating terminology services application programming interfaces: RxNav, UMLSKS and LexBIG. Journal of the American Medical Informatics Association : JAMIA. 2010 Nov-Dec;17(6):714-9.

Baye TM, Wilke RA. Mapping genes that predict treatment outcome in admixed populations. The pharmacogenomics journal. 2010 Dec;10(6):465-77.

Ludman EJ, Fullerton SM, Spangler L, Trinidad SB, Burke W. Glad you asked: participants' opinions of re-consent for dbGap data submission. Journal of empirical research on human research ethics : JERHRE. 2010 Sep;5(3):9-16.

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Doan S, Bastarache L, Klimkowski S, Denny JC, Xu H. Integrating existing natural language processing tools for medication extraction from discharge summaries. Journal of the American Medical Informatics Association : JAMIA. 2010 Sep-Oct;17(5):528-31.

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Lemke AA, Wolf WA, Hebert-Beirne J, Smith ME. Public and biobank participant attitudes toward genetic research participation and data sharing. Public health genomics. 2010;13(6):368-77.

Clayton EW, Smith M, Fullerton SM, Burke W, Consent and Community Consultation Working Group of the eMERGE Consortium., et al. Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium. Genetics in medicine : official journal of the American College of Medical Genetics. 2010 Oct;12(10):616-20.

Dumitrescu L, Ritchie MD, Brown-Gentry K, Pulley JM, Crawford DC. Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genetics in medicine : official journal of the American College of Medical Genetics. 2010 Oct;12(10):648-50.

Jun G, Naj AC, Beecham GW, Wang LS, Schellenberg GD, et al. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of neurology. 2010 Dec;67(12):1473-84.

Schildcrout JS, Basford MA, Pulley JM, Masys DR, Denny JC, et al. An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records. Journal of biomedical informatics. 2010 Dec;43(6):914-23.

Motsinger-Reif AA, Jorgenson E, Relling MV, Kroetz DL, Roden DM. Genome-wide association studies in pharmacogenomics: successes and lessons. Pharmacogenetics and genomics. 2013 Aug;23(8):383-94.

Pathak J, Chute CG. Analyzing categorical information in two publicly available drug terminologies: RxNorm and NDF-RT. Journal of the American Medical Informatics Association : JAMIA. 2010 Jul-Aug;17(4):432-9.

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Pulley J, Clayton E, Bernard GR, Roden DM, Masys DR. Principles of human subjects protections applied in an opt-out, de-identified biobank. Clinical and translational science. 2010 Feb;3(1):42-8.

Loukides G, Denny JC, Malin B. The disclosure of diagnosis codes can breach research participants' privacy. Journal of the American Medical Informatics Association : JAMIA. 2010 May-Jun;17(3):322-7.

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Loukides G, Gkoulalas-Divanis A, Malin B. Anonymization of electronic medical records for validating genome-wide association studies. Proceedings of the National Academy of Sciences of the United States of America. 2010 Apr 27;107(17):7898-903.

Wilke RA, Berg RL, Linneman JG, Peissig P, McCarty CA. Quantification of the clinical modifiers impacting high-density lipoprotein cholesterol in the community: Personalized Medicine Research Project. Preventive cardiology. 2010 Spring;13(2):63-8.

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Mareedu RK, Modhia FM, Kanin EI, Linneman JG, Wilke RA. Use of an electronic medical record to characterize cases of intermediate statin-induced muscle toxicity. Preventive cardiology. 2009 Spring;12(2):88-94.

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In the News

Here's what's happening with eMerge:

20
JUL

eMERGE Network is excited to share that Dr. Douglas Pet's project, Physicians Raise Concerns on Receiving Unsolicited Genomic Results; was published in Genetics in Medicine. The publication...

14
MAY

CDC's new blog post: Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world? Posted on May 8, 2018 by 

23
APR

...

07
MAR

Please find below a special note from the NHGRI Director, Eric Green. ******************************************************************** Dear NHGRI Grantee: In order to capitalize on the opportunities...