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Northwestern University Feinberg School of Medicine
Center for Genetic Medicine
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Publications & Collaborations

 eMERGE Phase III

  1. Fossey R, Kochan D, Winkler E, Pacyna JE, Olson J, Thibodeau S, Connolly JJ, Harr M, Behr MA, Prows CA, Cobb B, Myers MF, Leslie ND, Namjou-Khales B, Milo Rasouly H, Wynn J, Fedotov A, Chung WK, Gharavi A, Williams JL, Pais L, Holm I, Aufox S, Smith ME, Scrol A, Leppig K, Jarvik GP, Wiesner GL, Li R, Stroud M, Smoller JW, Sharp RR, Kullo IJ. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. Journal of personalized medicine. 2018 January 3;8(1). PubMed PMID: 29301385.
  2. 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 January;9(1):19-26. PubMed PMID: 28656483; PubMed Central PMCID: PMC5752650.
  3. Dellefave-Castillo LM, Puckelwartz MJ, McNally EM.Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing. JAMA Cardiol. 2018 Feb 28. doi: 10.1001/jamacardio.2017.5382. [Epub ahead of print] No abstract available. PMID: 29490332.
  4. Volpi S, Bult C, Chisholm RL, Deverka PA, Ginsburg GS, Jacob HJ, Kasapi M, McLeod HL, Roden DM, Williams MS, Green ED, Lyman Rodriguez L, Aronson S, Cavallari LH, Denny JC, Dressler L, Johnson JA, Klein TE, Steven Leeder J, Piquette-Miller M, Perera M, Rasmussen-Torvik LJ, Rehm HL, Ritchie MD, Skaar TC, Wagle N, Weinshilboum R, Weitzel KW, Wildin R, Wilson J, Manolio TA, Relling MV.Research directions in the clinical implementation of pharmacogenomics - An Overview of US programs and projects. Clin Pharmacol Ther. 2018 Feb 20. doi: 10.1002/cpt.1048. [Epub ahead of print] PMID: 29460415.
  5. Luo Y, Thompson WK, Herr TM, Zeng Z, Berendsen MA, Jonnalagadda SR, Carson MB, Starren J. Natural Language Processing for EHR-Based Pharmacovigilance: A Structured Review. Drug Saf. 2017 Nov;40(11):1075-1089. doi: 10.1007/s40264-017-0558-6. Review. PMID: 28643174.
  6. Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL, McNally EM. Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy. Circulation. 2017 October 17;136(16):1477-1491. PubMed PMID: 28778945; PubMed Central PMCID: PMC5645234.
  7. Puckelwartz MJ, McNally EM. Hypertrophic Cardiomyopathy Gene Testing: Go Big? Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001951. doi: 10.1161/CIRCGENETICS.117.001951. No abstract available. PMID: 29030407.
  8. Peissig P, Schwei KM, Kadolph C, Finamore J, Cancel E, McCarty CA, Okorie A, Thomas KL, Allen Pacheco J, Pathak J, Ellis SB, Denny JC, Rasmussen LV, Tromp G, Williams MS, Vrabec TR, Brilliant MH. Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application. JMIR Med Inform. 2017 Sep 13;5(3):e27. doi: 10.2196/medinform.7465. PMID: 28903894.
  9. Gustafson E, Pacheco J, Wehbe F, Silverberg J, Thompson W. A Machine Learning Algorithm for Identifying Atopic Dermatitis in Adults from Electronic Health Records. IEEE International Conference on Healthcare Informatics. IEEE International Conference on Healthcare Informatics. 2017 August;2017:83-90. PubMed PMID: 29104964; PubMed Central PMCID: PMC5664951.
  10. Holzinger ER, Verma SS, Moore CB, Hall M, De R, Gilbert-Diamond D, Lanktree MB, Pankratz N, Amuzu A, Burt A, Dale C, Dudek S, Furlong CE, Gaunt TR, Kim DS, Riess H, Sivapalaratnam S, Tragante V, van Iperen EPA, Brautbar A, Carrell DS, Crosslin DR, Jarvik GP, Kuivaniemi H, Kullo IJ, Larson EB, Rasmussen-Torvik LJ, Tromp G, Baumert J, Cruickshanks KJ, Farrall M, Hingorani AD, Hovingh GK, Kleber ME, Klein BE, Klein R, Koenig W, Lange LA, Mӓrz W, North KE, Charlotte Onland-Moret N, Reiner AP, Talmud PJ, van der Schouw YT, Wilson JG, Kivimaki M, Kumari M, Moore JH, Drenos F, Asselbergs FW, Keating BJ, Ritchie MD. Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Min. 2017 Jul 24;10:25. doi: 10.1186/s13040-017-0145-5. eCollection 2017. PMID: 28770004.
  11. Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic LC, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith ME, Stallings SC, Wolf WA, Zhang K, Scott SA. Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. The Journal of molecular diagnostics : JMD. 2017 July;19(4):561-566. PubMed PMID: 28502727; PubMed Central PMCID: PMC5500823.
  12. Rohrer Vitek CR, Abul-Husn NS, Connolly JJ, Hartzler AL, Kitchner T, Peterson JF, Rasmussen LV, Smith ME, Stallings S, Williams MS, Wolf WA, Prows CA. Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience. Pharmacogenomics. 2017 Jul;18(10):1013-1025. doi: 10.2217/pgs-2017-0038. Epub 2017 Jun 22. PMID: 28639489.
  13. Rusu V, Hoch E, Mercader JM, Tenen DE, Gymrek M, Hartigan CR, DeRan M, von Grotthuss M, Fontanillas P, Spooner A, Guzman G, Deik AA, Pierce KA, Dennis C, Clish CB, Carr SA, Wagner BK, Schenone M, Ng MCY, Chen BH; MEDIA Consortium; SIGMA T2D Consortium, Centeno-Cruz F, Zerrweck C, Orozco L, Altshuler DM, Schreiber SL, Florez JC, Jacobs SBR, Lander ES. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell. 2017 Jun 29;170(1):199-212.e20. doi: 10.1016/j.cell.2017.06.011. PMID: 28666119.
  14. Mosley JD, Shoemaker MB, Wells QS, Darbar D, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Witte JS, Denny JC, Roden DM. Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. Circulation. Cardiovascular genetics. 2017 April;10(2). PubMed PMID: 28416512; PubMed Central PMCID: PMC5434456.
  15. Nadkarni GN, Galarneau G, Ellis SB, Nadukuru R, Zhang J, Scott SA, Schurmann C, Li R, Rasmussen-Torvik LJ, Kho AN, Hayes MG, Pacheco JA, Manolio TA, Chisholm RL, Roden DM, Denny JC, Kenny EE, Bottinger EP. Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans.J Am Coll Cardiol. 2017 Mar 28;69(12):1564-1574. doi: 10.1016/j.jacc.2017.01.040.PMID: 28335839.
  16. Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Antommaria AHM, Aufox SA, Brilliant MH, Campos D, Carrell DS, Connolly J, Conway P, Fullerton SM, Garrison NA, Horowitz CR, Jarvik GP, Kaufman D, Kitchner TE, Li R, Ludman EJ, McCarty CA, McCormick JB, McManus VD, Myers MF, Scrol A, Williams JL, Shrubsole MJ, Schildcrout JS, Smith ME, Holm IA. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US..Am J Hum Genet. 2017 Mar 2;100(3):414-427. doi: 10.1016/j.ajhg.2017.01.021. Epub 2017 Feb 9. PMID: 28190457.
  17. Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS, Peissig PL, Linneman JG, McCarty CA, Crosslin D, Carrell DS, Lingren T, Namjou-Khales B, Harley JB, Larson E, Jarvik GP, Brilliant M, Williams MS, Kullo IJ, Hysinger EB, Sleiman PM, Hakonarson H. Identification of Four Novel Loci in Asthma in European American and African American Populations. Am J Respir Crit Care Med. 2017 Feb 15;195(4):456-463. doi: 10.1164/rccm.201604-0861OC. PubMed PMID: 27611488;PubMed Central PMCID: PMC5378422.
  18. Dumitrescu L, Ritchie MD, Denny JC, El Rouby NM, McDonough CW, Bradford Y, Ramirez AH, Bielinski SJ, Basford MA, Chai HS, Peissig P, Carrell D, Pathak J, Rasmussen LV, Wang X, Pacheco JA, Kho AN, Hayes MG, Matsumoto M, Smith ME, Li R, Cooper- DeHoff RM, Kullo IJ, Chute CG, Chisholm RL, Jarvik GP, Larson EB, Carey D, McCarty CA, Williams MS, Roden DM, Bottinger E, Johnson JA, de Andrade M, Crawford DC. Genome-wide study of resistant hypertension identified from electronic health records. PLoS One. 2017 Feb 21;12(2):e0171745. doi: 10.1371/journal.pone.0171745. eCollection 2017. PubMed PMID: 28222112; PubMed Central PMCID: PMC5319785.
  19. Dumitrescu L, Ritchie MD, Denny JC, El Rouby NM, McDonough CW, Bradford Y, Ramirez AH, Bielinski SJ, Basford MA, Chai HS, Peissig P, Carrell D, Pathak J, Rasmussen LV, Wang X, Pacheco JA, Kho AN, Hayes MG, Matsumoto M, Smith ME, Li R, Cooper- DeHoff RM, Kullo IJ, Chute CG, Chisholm RL, Jarvik GP, Larson EB, Carey D, McCarty CA, Williams MS, Roden DM, Bottinger E, Johnson JA, de Andrade M, Crawford DC. Genome-wide study of resistant hypertension identified from electronic health records. PLoS One. 2017 Feb 21;12(2):e0171745. doi: 10.1371/journal.pone.0171745. eCollection 2017. PubMed PMID: 28222112; PubMed Central PMCID: PMC5319785.
  20. Mosley JD, van Driest SL, Wells QS, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Denny JC, Roden DM. Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. Circ Cardiovasc Genet. 2016 Dec;9(6):521-530. doi: 10.1161/CIRCGENETICS.116.001530. Epub 2016 Oct 25. PubMed PMID: 27780847; PubMed Central PMCID: PMC5177499.
  21. Smith ME, Sanderson SC, Brothers KB, Myers MF, McCormick J, Aufox S, Shrubsole MJ, Garrison NA, Mercaldo ND, Schildcrout JS, Clayton EW, Antommaria AH, Basford M, Brilliant M, Connolly JJ, Fullerton SM, Horowitz CR, Jarvik GP, Kaufman D, Kitchner T, Li R, Ludman EJ, McCarty C, McManus V, Stallings S, Williams JL, Holm IA. Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. BMC Med Res Methodol. 2016 Nov 24;16(1):162. PubMed PMID: 27881091; PubMed Central PMCID: PMC5122167.
  22. Jackson KL, Mbagwu M, Pacheco JA, Baldridge AS, Viox DJ, Linneman JG, Shukla SK, Peissig PL, Borthwick KM, Carrell DA, Bielinski SJ, Kirby JC, Denny JC, Mentch FD, Vazquez LM, Rasmussen-Torvik LJ, Kho AN. 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 Infect Dis. 2016 Nov 17;16(1):684. PubMed PMID: 27855652; PubMed Central PMCID: PMC5114817.
  23. Kirby JC, Speltz P, Rasmussen LV, Basford M, Gottesman O, Peissig PL, Pacheco JA, Tromp G, Pathak J, Carrell DS, Ellis SB, Lingren T, Thompson WK, Savova G, Haines J, Roden DM, Harris PA, Denny JC. PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. J Am Med Inform Assoc. 2016 Nov;23(6):1046-1052. doi:10.1093/jamia/ocv202. Epub 2016 Mar 28. PubMed PMID: 27026615; PubMed Central PMCID: PMC5070514.
  24. Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060. PubMed PMID: 27652374; PubMed Central PMCID: PMC5052555.
  25. Bush WS, Crosslin DR, Owusu-Obeng A, Wallace J, Almoguera B, Basford MA, Bielinski SJ, Carrell DS, Connolly JJ, Crawford D, Doheny KF, Gallego CJ, Gordon AS, Keating B, Kirby J, Kitchner T, Manzi S, Mejia AR, Pan V, Perry CL, Peterson JF, Prows CA, Ralston J, Scott SA, Scrol A, Smith M, Stallings SC, Veldhuizen T, Wolf W, Volpi S, Wiley K, Li R, Manolio T, Bottinger E, Brilliant MH, Carey D, Chisholm RL, Chute CG, Haines JL, Hakonarson H, Harley JB, Holm IA, Kullo IJ, Jarvik GP, Larson EB, McCarty CA, Williams MS, Denny JC, Rasmussen-Torvik LJ, Roden DM, Ritchie MD. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 Aug;100(2):160-9. doi: 10.1002/cpt.350. Epub 2016 Jun 1. PubMed PMID: 26857349; PubMed Central PMCID: PMC5010878.
  26. Liu CT, Raghavan S, Maruthur N, Kabagambe EK, Hong J, Ng MC, Hivert MF, Lu Y, An P, Bentley AR, Drolet AM, Gaulton KJ, Guo X, Armstrong LL, Irvin MR, Li M, Lipovich L, Rybin DV, Taylor KD, Agyemang C, Palmer ND, Cade BE, Chen WM, Dauriz M, Delaney JA, Edwards TL, Evans DS, Evans MK, Lange LA, Leong A, Liu J, Liu Y, Nayak U, Patel SR, Porneala BC, Rasmussen-Torvik LJ, Snijder MB, Stallings SC, Tanaka T, Yanek LR, Zhao W, Becker DM, Bielak LF, Biggs ML, Bottinger EP, Bowden DW, Chen G, Correa A, Couper DJ, Crawford DC, Cushman M, Eicher JD, Fornage M, Franceschini N, Fu YP, Goodarzi MO, Gottesman O, Hara K, Harris TB, Jensen RA, Johnson AD, Jhun MA, Karter AJ, Keller MF, Kho AN, Kizer JR, Krauss RM, Langefeld CD, Li X, Liang J, Liu S, Lowe WL Jr, Mosley TH, North KE, Pacheco JA, Peyser PA, Patrick AL, Rice KM, Selvin E, Sims M, Smith JA, Tajuddin SM, Vaidya D, Wren MP, Yao J, Zhu X, Ziegler JT, Zmuda JM, Zonderman AB, Zwinderman AH; AAAG Consortium.; CARe Consortium.; COGENT-BP Consortium.; eMERGE Consortium.; MEDIA Consortium., Adeyemo A, Boerwinkle E, Ferrucci L, Hayes MG, Kardia SL, Miljkovic I, Pankow JS, Rotimi CN, Sale MM, Wagenknecht LE, Arnett DK, Chen YD, Nalls MA; MAGIC Consortium., Province MA, Kao WH, Siscovick DS, Psaty BM, Wilson JG, Loos RJ, Dupuis J, Rich SS, Florez JC, Rotter JI, Morris AP, Meigs JB. Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. Am J Hum Genet. 2016 Jul 7;99(1):56-75. doi: 10.1016/j.ajhg.2016.05.006. Epub 2016 Jun 16. PubMed PMID: 27321945; PubMed Central PMCID: PMC5005440.
  27. Garrison NA, Sathe NA, Antommaria AH, Holm IA, Sanderson SC, Smith ME, McPheeters ML, Clayton EW. A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States. Genet Med. 2016 Jul;18(7):663-71. doi: 10.1038/gim.2015.138. Epub 2015 Nov 19. PubMed PMID: 26583683; PubMed Central PMCID: PMC4873460.
  28. Mosley JD, Shaffer CM, Van Driest SL, Weeke PE, Wells QS, Karnes JH, Velez Edwards DR, Wei WQ, Teixeira PL, Bastarache L, Crawford DC, Li R, Manolio TA, Bottinger EP, McCarty CA, Linneman JG, Brilliant MH, Pacheco JA, Thompson W, Chisholm RL, Jarvik GP, Crosslin DR, Carrell DS, Baldwin E, Ralston J, Larson EB, Grafton J, Scrol A, Jouni H, Kullo IJ, Tromp G, Borthwick KM, Kuivaniemi H, Carey DJ, Ritchie MD, Bradford Y, Verma SS, Chute CG, Veluchamy A, Siddiqui MK, Palmer CN, Doney A, MahmoudPour SH, Maitland-van der Zee AH, Morris AD, Denny JC, Roden DM. A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. Pharmacogenomics J. 2016 Jun;16(3):231-7. doi: 10.1038/tpj.2015.51. Epub 2015 Jul 14. PubMed PMID: 26169577; PubMed Central PMCID: PMC4713364.
  29. Aziz A, Kawamoto K, Eilbeck K, Williams MS, Freimuth RR, Hoffman MA, Rasmussen LV, Overby CL, Shirts BH, Hoffman JM, Welch BM. The genomic CDS sandbox: An assessment among domain experts. J Biomed Inform. 2016 Apr;60:84-94. doi: 10.1016/j.jbi.2015.12.019. Epub 2016 Jan 15. PubMed PMID: 26778834; PubMed Central PMCID: PMC4948866.
  30. Heatherly R, Rasmussen LV, Peissig PL, Pacheco JA, Harris P, Denny JC, Malin BA. A multi-institution evaluation of clinical profile anonymization. J Am Med Inform Assoc. 2016 Apr;23(e1):e131-7. doi: 10.1093/jamia/ocv154. Epub 2015 Nov 13. PubMed PMID: 26567325; PubMed Central PMCID: PMC4954623.

 eMERGE Phase II

  1. Rasmussen LV, Kiefer RC, Mo H, Speltz P, Thompson WK, Jiang G, Pacheco JA, Xu J, Zhu Q, Denny JC, Montague E, Pathak J. A Modular Architecture for Electronic Health Record-Drive Phenotyping. AMIA Jt Summits Transl Sci Proc. 2015 Mar 25;2015:147-51. eCollection 2015. PMID:
  2. Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW. Practical Guidance on Informed Consent for Pediatric Participants in a Biorepository. Mayo Clin Proc. 2014 Nov; 89(11):1471.   doi: 10.1016/j.mayocp.2014.07.006. PMID: 25264176 
  3. David Russell Crosslin, Gerard Tromp, Amber Burt, Daniel Seung Kim, Shefali S Verma, Anastasia M. Lucas, Yuki Bradford, Dana C. Crawford, Sebastian M. Armasu, John A. Heit, Geoffrey Hayes, Helena Kuivaniemi, Marylyn D Ritchie, Gail P. Jarvik and Mariza De Andrade Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records.  Front Genet. 2014 Nov 4;5:352. doi: 10.3389/fgene.2014.00352. eCollection 2014. PMID: 25414722.
  4. Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Hall P, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard-Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing-Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson A, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller-Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma DI, Bornstein SR, Bovet P, Brambilla P, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC; Electronic Medical Records and Genomics (eMERGE) Consortium; MIGen Consortium; PAGE Consortium; LifeLines Cohort Study, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Speliotes EK, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Boehnke M, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Franke L, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Hirschhorn JN, Frayling TM. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5. PMID: 25282103.
  5. Crosslin DR, Carrell DS, Burt A, Kim DS, Underwood JG, Hanna DS, Comstock BA, Baldwin E, de Andrade M, Kullo IJ, Tromp G, Kuivaniemi H, Borthwick KM, McCarty CA, Peissig PL, Doheny KF, Pugh E, Kho A, Pacheco J, Hayes MG, Ritchie MD, Verma SS, Armstrong G, Stallings S, Denny JC, Carroll RJ, Crawford DC, Crane PK, Mukherjee S, Bottinger E, Li R, Keating B, Mirel DB, Carlson CS, Harley JB, Larson EB, Jarvik GP. Genetic variation in the HLA region is associated with susceptibility to herpes zoster.  Genes Immun. 2014 Oct 9;0. doi: 10.1038/gene.2014.51. [Epub ahead of print]  PMID: 25297839.
  6. Rasmussen LV, Thompson WK, Pacheco JA, Kho AN, Carrell DS, Pathak J, Peissig PL, Tromp G, Denny JC, Starren JB. Design patterns for the development of electronic health record-driven phenotype extraction algorithms. J Biomed Inform. 2014 Oct;51:280-6. doi: 10.1016/j.jbi.2014.06.007. Epub 2014 Jun 21. PMID: 24960203 
  7. Rasmussen-Torvik LJ; Sarah C. Stallings; Adam S. Gordon; Berta Almoguera; Melissa A. Basford; Suzette J. Bielinski; Ariel Brautbar; Murray Brilliant; David S. Carrell; John Connolly; David R. Crosslin; Kimberly F. Doheny; Carlos J. Gallego; Omri Gottesman; Daniel Seung Kim; Kathleen A. Leppig; Rongling Li; Simon Lin; Shannon Manzi; Ana R. Mejia; Jennifer A. Pacheco; Vivian Pan; Jyotishman Pathak; Cassandra L. Perry; Josh F. Peterson; Cynthia A. Prows; James Ralston; Luke V. Rasmussen; Marylyn D. Ritchie; Senthilkumar Sadhasivam; Stuart A. Scott; Maureen Smith; Aida Vega; Alexander A. Vinks; Simona Volpi; Wendy A. Wolf; Erwin Bottinger; Rex L. Chisholm; Christopher G. Chute; Jonathan L. Haines; John B. Harley; Brendan Keating; Ingrid A. Holm; Iftikhar J. Kullo; Gail P. Jarvik; Eric B. Larson; Teri Manolio; Catherine A. McCarty; Deborah A. Nickerson; Steven E. Scherer; Marc S. Williams; Dan M. Roden; Joshua C. Denny. Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems. Clin Pharmacol Ther. 2014 Oct;96(4):482-9. doi: 10.1038/clpt.2014.137. Epub 2014 Jun 24. PMID: 24960519.
  8. Ng MCY, Shriner D, Chen BH, Li J, Chen W-M, Guo X, Liu J, Bielinski S, Yanek LR, Nalls MA, Comeau ME, Rasmussen-Torvik LJ, Jensen RA, Evans DS, Sun YV, An P, Patel SR, Loos RJF, Long J, Armstrong LL, Wagenknecht L, Yang L, Snively BM, Allred N, Mudgal P, Langefeld CD, Keene KL, Freedman BI, Mychaleckyj JC, Nayak U, Raffel L, Goodarzi M, Chen YDI, Taylor HA Jr, Correa A, Sims M, Couper D, Pankow JS, Boerwinkle E, Adeyemo A, Doumatey A, Chen G, Mathias RA, Vaidya D, Singleton AB, Zonderman AB, Iyengar S, Igo RP Jr, the FIND Consortium, Kabagambe E, Siscovick DS, McKnight B, Rice K, Liu Y, Hsueh W-C, Zhao W, Bielak LF, Kraja A, Province MA, Lu Y, Gottesman O, Cai Q, Zheng W, Blot WJ, Pacheco JA, Crawford DC, Lowe WL Jr, the eMERGE Consortium, Morris AP, McCarthy MI, DIAGRAM Consortium, Grundberg E, MuTHER consortium, Rich S, Hayes MG, Shu X-O, Bottinger EP, Borecki IB, Peyser PA, Cummings SR, Psaty BM, Fornage M, Sedor JR, Evans MK, Becker DM, Kao L, Wilson JG, Rotter JI, Sale MM, Liu S, Rotimi CN, Bowden DW for the MEta-analysis of type 2 DIabetes in African Americans (MEDIA) Consortium (2014)  Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.  PLoS Genet. 2014 Aug 7;10(8):e1004517. doi: 10.1371/journal.pgen.1004517. PMID: 25102180.
  9. Rasmussen LV. The Electronic Health Record for Translational Research. J Cardiovasc Transl Res. 2014 Aug;7(6):607-14. doi: 10.1007/s12265-014-9579-z. Epub 2014 Jul 29. Review. PMID: 25070682
  10. Crawford DC, Crosslin DR, Tromp G, Kullo IJ, Kuivaniemi H, Hayes MG, Denny JC, Bush WS, Haines JL, Roden DM, McCarty CA, Jarvik GP, Ritchie MD. eMERGEing progress in genomics-the first seven years.  Front Genet. 2014 Jun 17;5:184. doi: 10.3389/fgene.2014.00184. eCollection 2014. Review. PMID: 24987407.
  11. Andrew J. Gawron, William K. Thompson, Rajesh N Keswani, Luke V. Rasmussen, Abel N. Kho.  Anatomic Adenoma Detection Rates as Quality Metrics determined via Natural Language Processing. American Journal of Gastroenterology.  2014 Dec; 109(12):1844-9.  doi: 10.1038/ajg. 2014.147. Epub 2014 Jun 17.  PMID: 24935271.
  12. Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group, Burke W. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between. Am J Hum Genet. 2014 May 7. pii: S0002-9297(14)00181-5. doi: 10.1016/j.ajhg.2014.04.009. [Epub ahead of print] PubMed PMID: 24814192.
  13. Jeff JM, Armstrong LL, Ritchie MD, Denny JC, Kho AN, Basford MA, Wolf WA, Pacheco JA, Li R, Chisholm RL, Roden DM, Hayes MG, Crawford DC. Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans. PLoS One. 2014 Mar 3;9(3):e86931. doi: 10.1371/journal.pone.0086931. eCollection 2014. PubMed PMID: 24595071; PubMed Central PMCID: PMC3940426.
  14. Kullo IJ, Haddad R, Prows CA, Holm I, Sanderson SC, Garrison NA, Sharp RR, Smith ME, Kuivaniemi H, Bottinger EP, Connolly JJ, Keating BJ, McCarty CA, Williams MS, Jarvik GP. Return of results in the genomic medicine projects of the eMERGE network. Front Genet. 2014 Mar 26;5:50. doi: 10.3389/fgene.2014.00050. eCollection 2014. PubMed PMID: 24723935; PubMed Central PMCID: PMC3972474.
  15. Muthalagu A, Pacheco JA, Aufox S, Peissig PL, Fuehrer JT, Tromp G, Kho AN, Rasmussen-Torvik LJ. A Rigorous Algorithm To Detect And Clean Inaccurate Adult Height Records Within EHR Systems. Appl Clin Inform. 2014 Feb 19;5(1):118-26. doi: 10.4338/ACI-2013-09-RA-0074. eCollection 2014. PubMed PMID: 24734128; PubMedCentral PMCID: PMC3974252.
  16. Shameer K, Denny JC, Ding K, Jouni H, Crosslin DR, de Andrade M, Chute CG, Peissig P, Pacheco JA, Li R, Bastarache L, Kho AN, Ritchie MD, Masys DR, Chisholm RL, Larson EB, McCarty CA, Roden DM, Jarvik GP, Kullo IJ. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet. 2014 Jan;133(1):95-109. doi: 10.1007/s00439-013-1355-7. Epub 2013 Sep 12. PubMed PMID: 24026423; PubMed Central PMCID: PMC3880605.
  17. Jeff JM, Brown-Gentry K, Goodloe R, Ritchie MD, Denny JC, Kho AN, Armstrong LL, McClellan Jr B, Mayo P, Allen M, Jin H, Gillani NB, Schnetz-Boutaud N, Dilks HH, Basford MA, Pacheco JA, Chisholm RL, Roden DM, Hayes MG, Crawford DC.  Replication of SCN5A associations with electrocardiographic traits in African Americans from clinical and epidemiologic studies. Evol Comput Mach Learn Data Min Bioinform. 2014; 2014:939-951. PMID: 25590050.
  18. Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 2013 Dec;31(12):1102-10. PubMed PMID: 24270849; PubMed Central PMCID: PMC3969265.
  19. Pathak J, Kho AN, Denny JC. Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. J Am Med Inform Assoc. 2013 Dec;20(e2):e206-11. doi: 10.1136/amiajnl-2013-002428. PubMed PMID: 24302669; PubMed Central PMCID: PMC3861925.
  20. Omri Gottesman, MD, Helena Kuivaniemi, MD, PhD, Gerard Tromp, PhD, W. Andrew Faucett, MS, Rongling Li, MD, PhD, Teri A. Manolio, MD, PhD, Saskia C. Sanderson, Joseph Kannry, MD, Randi Zinberg, MS, CGC, Melissa A. Basford, MBA, Murray Brilliant, PhD, David J. Carey, PhD, Rex L. Chisholm, PhD, Christopher G. Chute, MD, DrPH, John J.Co nnolly, MD, David Crosslin, PhD, Joshua C. Denny, MD, Carlos J. Gallego, MD, Jonathan Haines, PhD, Hakon Hakonarson, MD, PhD, John Harley, MD, PhD, Gail P. Jarvik, MD, PhD, Isaac Kohane, MD, PhD, Iftikhar Kullo, MD, Eric B. Larson, MD, MPH, CatherineMcCarty, PhD, MPH, Marylyn D. Ritchie, PhD, Dan Roden, MD, Maureen E. Smith, MS, Erwin P. Böttinger, MD, Marc S. Williams, MD and The eMERGE Network. The Electronic Medical Records and Genomics (eMERGE) Network: Past, Present and Future. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Review. PMID: 23743551
  21. Overby CL, Kohane I, Kannry JL, Williams MS, Starren J, Bottinger E, GottesmanO, Denny JC, Weng C, Tarczy-Hornoch P, Hripcsak G. Opportunities for genomic clinical decision support interventions. Genet Med. 2013 Oct;15(10):817-23. doi: 10.1038/gim.2013.128. Epub 2013 Sep 19. PubMed PMID: 24051479; PubMed CentralPMCID: PMC3858176.
  22. Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Review. PubMed PMID: 23743551; PubMed Central PMCID: PMC3795928.
  23. Hartzler A, McCarty CA, Rasmussen LV, Williams MS, Brilliant M, Bowton EA, Clayton EW, Faucett WA, Ferryman K, Field JR, Fullerton SM, Horowitz CR, Koenig BA, McCormick JB, Ralston JD, Sanderson SC, Smith ME, Trinidad SB. Stakeholder engagement: a key component of integrating genomic information into electronic health records. Genet Med. 2013 Oct;15(10):792-801. doi: 10.1038/gim.2013.127. Epub 2013 Sep 12. Review. PubMed PMID: 24030437; PubMed Central PMCID: PMC3909653.
  24. Kho AN, Rasmussen LV, Connolly JJ, Peissig PL, Starren J, Hakonarson H, Hayes MG. Practical challenges in integrating genomic data into the electronic health record. Genet Med. 2013 Oct;15(10):772-8. doi: 10.1038/gim.2013.131. Epub 2013. Sep 26. Review. PubMed PMID: 24071798.
  25. Ding K, de Andrade M, Manolio TA, Crawford DC, Rasmussen-Torvik LJ, Ritchie MD, Denny JC, Masys DR, Jouni H, Pachecho JA, Kho AN, Roden DM, Chisholm R, Kullo IJ. Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. G3 (Bethesda). 2013 Jul 8;3(7):1061-8. doi: 10.1534/g3.113.006452. PubMed PMID: 23696099; PubMed Central PMCID: PMC3704235.
  26. Newton KM, Peissig PL, Kho AN, Bielinski SJ, Berg RL, Choudhary V, Basford M, Chute CG, Kullo IJ, Li R, Pacheco JA, Rasmussen LV, Spangler L, Denny JC. Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. J Am Med Inform Assoc. 2013 Jun;20(e1):e147-54. doi: 10.1136/amiajnl-2012-000896. Epub 2013 Mar 26. PubMedMID: 23531748; PubMed Central PMCID: PMC3715338.
  27. Smith ME, Aufox S. Biobanking, the Melding of Research with Clinical Care. Current Genetic Medicine Reports. 2013 Jun;1(2):122-128. DOI 10.1007/s40142-013-0014-6. PMID:24159428 [PubMed] PMCID: PMC3804314.
  28. Crosslin DR, McDavid A, Weston N, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Ritchie MD, Saip A, Crawford DC, Crane PK, Newton K, Carrell DS, Gallego CJ, Nalls MA, Li R, Mirel DB, Crenshaw A, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Zakai NA, Yango Q, Garcia M, Liu Y, Lumley T, Folsom AR, Reiner AP, Felix JF, Dehghan A, Wilson JG, Bis JC, Fox CS, Glazer NL, Cupples LA, Coresh J, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Witteman JC, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK; CHARGE Hematology Working Group, Larson EB, Carlson CS, Jarvik GP; electronic Medical Records and Genomics (eMERGE) Network. Genetic variation associated with circulating monocyte count in the eMERGE Network. HumMol Genet. 2013 May 15;22(10):2119-27. doi: 10.1093/hmg/ddt010. Epub 2013 Jan 12. PubMed PMID: 23314186; PubMed Central PMCID: PMC3633369.
  29. Ritchie MD, Denny JC, Zuvich RL, Crawford DC, Schildcrout JS, Bastarache L, Ramirez AH, Mosley JD, Pulley JM, Basford MA, Bradford Y, Rasmussen LV, Pathak J, Chute CG, Kullo IJ, McCarty CA, Chisholm RL, Kho AN, Carlson CS, Larson EB, Jarvik GP, Sotoodehnia N; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) QRS Group, Manolio TA, Li R, Masys DR, Haines JL, Roden DM. Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. 2013 Apr 2;127(13):1377-85. doi: 10.1161/CIRCULATIONAHA.112.000604. Epub 2013 Mar 5. PubMed PMID: 23463857; PubMed Central PMCID: PMC3713791.
  30. Wei WQ, Leibson CL, Ransom JE, Kho AN, Chute CG. The absence of longitudinal data limits the accuracy of high-throughput clinical phenotyping for identifying type 2 diabetes mellitus subjects. Int J Med Inform. 2013 Apr;82(4):239-47. doi: 10.1016/j.ijmedinf.2012.05.015. Epub 2012 Jul 2. PubMed PMID:22762862; PubMedCentral PMCID: PMC3478423.
  31. Jeff JM, Ritchie MD, Denny JC, Kho AN, Ramirez AH, Crosslin D, Armstrong L, Basford MA, Wolf WA, Pacheco JA, Chisholm RL, Roden DM, Hayes MG, Crawford DC. Generalization of Variants Identified by Genome-Wide Association Studies for Electrocardiographic Traits in African Americans. Ann Hum Genet. 2013 Mar 28. doi: 10.1111/ahg.12023. [Epub ahead of print] PubMed PMID: 23534349; PubMedCentral PMCID: PMC3743946.
  32. Starren J, Williams MS, Bottinger EP. Crossing the Omic Chasm: A Time for Omic Ancillary Systems.  2013 Mar 27;309(12):1237-8. doi: 10.1001/jama.2013.1579. No abstract available. PMID: 23494000.
  33. Rasmussen-Torvik LJ, Pacheco JA, Wilke RA, Thompson WK, Ritchie MD, Kho AN, Muthalagu A, Hayes MG, Armstrong LL, Scheftner DA, Wilkins JT, Zuvich RL, Crosslin D, Roden DM, Denny JC, Jarvik GP, Carlson CS, Kullo IJ, Bielinski SJ, McCarty CA, Li R, Manolio TA, Crawford DC, Chisholm RL.  (2012)  High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOEClin Transl Sci. 2012 Oct;5(5):394-9. doi: 10.1111/j.1752-8062.2012.00446.x. Epub 2012 Aug 23. PMID: 23067351
  34. : Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK, Armstrong LL, Denny JC, Peissig PL, Miller AW, Wei WQ, Bielinski SJ, Chute CG, Leibson CL, Jarvik GP, Crosslin DR, Carlson CS, Newton KM, Wolf WA, Chisholm RL, Lowe WL Jr. (2012)  Use of Diverse Electronic Medical Record Systems to Identify Genetic Risk for Type 2 Diabetes within a Genome Wide Association Study. J Am Med Inform Assoc. 2012 Mar-Apr; 19(2): 212–218 19(2):212-8. doi: 10.1136/amiajnl-2011-000439. PMID: 22101970.

 eMERGE Phase I

  1. Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK, Armstrong LL, Denny JC, Peissig PL, Miller AW, Wei WQ, Bielinski SJ, Chute CG, Leibson CL, Jarvik GP, Crosslin DR, Carlson CS, Newton KM, Wolf WA, Chisholm RL, LoweWL. “Use of Diverse Electronic Medical Record Systems to Identify Genetic Risk for Type 2 Diabetes within a Genome Wide Association Study.” J Am Med Inform Assoc. 2012 Mar-Apr; 19(2): 212–218. doi: 10.1136/amiajnl-2011-000439. PMID: 22101970.
  2. Pacheco JA, Thompson WK, Kho AN. “Automatically Detecting Problem List Omissions of Type 2 Diabetes Cases Using Electronic Medical Records,” AMIA Annual Symposium Proceeding Oct 2011: 1062-1070.
  3. McGuire A, Basford, Dressler L, Fullerton SM, Koenig B, Li, McCarty C, Ramos, Smith ME, Somkin, Waudby C, Wolf WA, Clayton EW. Ethical and Practical Challenges of Sharing Data from Genome-Wide Association Studies: The eMERGE Consortium Experience. Genome Research 1 June 2011; PMID: 21632745.
  4. Kho AN, Pacheco JA, Peissig PL, Rasmussen LT, Newton, Weston N, Crane, Pathak, Chute CG, Bielinski SJ, Kullo I, Manolio T, Chisholm RL, Denny JC. “Electronic Medical Records for Genetics Research: Results of the eMERGE Consortium.” Sci Transl Med 20 April 2011 3:79re1. PMID: 21508311.
  5. McCarty CA, Chisholm RL, Chute CG, Kullo I, Jarvik G, Larson EB, Li R, Masys DR, Ritchie MD, Roden DM, Struewing JP, Wolf WA. “The eMERGE Network: A Consortium of Biorepositories Linked to Electronic Medical Records Data for Conducting Genomic Studies.” BMC Genomics. 2011 Jan 26. PMID: 21269473.
  6. Edwards KL, Lemke AA, Trinidad SB, Lewis, Starks, Quinn-Griffin, Wiesner, GRRIP Consortium. “Attitudes toward Genetic Research Review: Results from a Survey of Human Genetics Researchers.” Public Health Genomics 2011;14:337–345. PMID: 21487211.
  7. Lemke AA, Smith ME, Wolf WA, Trinidad SB, and the GRRIP consortium. “Broad Data Sharing in Genetic Research: Views of Institutional Review Board Professionals.” IRB: Ethics & Human Research 33, no. 3 (2011): 1-5. PMID: 21736136.
  8. Clayton EW, Smith ME, Fullerton SM, Burke W, McCarty CA, Koenig B, McGuire AL, Beskow LM, Dressler L, Lemke AA, Ramos EM, Rodriguez LL, for the Consent and Community Consultation Working Group of the eMERGE Consortium. “Confronting Real-Time Ethical Issues in the eMERGE (electronic Medical Records and Genomics) Consortium.” Genet Med. 2010 Oct; 12 (10): 616-620. PMID: 20733502.
  9. Schildcrout, Basford, Pulley, Masys DR, Roden DM, Wang, Chute CG, Kull, Carrell, Peissig PL, Kho AN, Denny JC. “An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records.” J Biomed Inform. 2010 Aug 3. PMID:20688191.
  10. Edwards, Lemke AA, Trinidad SB, Lewis, Starks, Snappin, Quinn-Griffin, Wiesner, Burke, GRRIP Consortium. “Comparison of Attitudes toward Genetic Research Review: Results from a Survey of Human Genetics Researchers and Professionals Involved in Human Subjects Protections.” J Empir Res Hum Res Ethics. 2010 Mar;5(1):83-91. PMID: 20235866.
  11. Lemke AA, Wolf WA, Hebert-Beirne, J, Smith ME. “Public and biobank participant attitudes toward genetic research participation and data sharing,” [published online ahead of Epub January 15, 2010] Public Health Genomics. PMID: 20805700.
  12. Lemke AA, Wu J, Brown E, Lam A, Pulley J, Waudby C. “Community Engagement Methods Utilized by Six Electronic Medical Record-Linked Biobanks in the United States.” Genomics, Society, and Policy. 2010; 6 (3): 35-52. ISSN: 1746-5354.
  13. Pacheco JA, Avila PC, Thompson JA, Law M, Quraishi JA, Greiman AK, Just EM, Kho AN. “A Highly Specific Algorithm for Identifying Asthma Cases and Controls for Genome-Wide Association Studies.” AMIA Annu Symp Proc. 2009 Nov. 14; 2009: 497–501. PMID: 20351906
  14. Khoury MJ, McBride CM, Schully SD, Ioannidis JP, Feero WG, Janssens AC, Gwinn M, Simons-Morton DG, Bernhardt JM, Cargill M, Chanock SJ, Church GM, Coates RJ, Collins FS, Croyle RT, Davis BR, Downing GJ, Duross A, Friedman S, Gail MH, Ginsburg GS, Green RC, Greene MH, Greenland P, Gulcher JR, Hsu A, Hudson KL, Kardia SL, Kimmel PL, Lauer MS, Miller AM, Offit K, Ransohoff DF, Roberts JS, Rasooly RS, Stefansson K, Terry SF, Teutsch SM, Trepanier A, Wanke KL, Witte JS, Xu J; Centers for Disease Control and Prevention. “The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.” Genet Med. 2009 Aug;11(8):559-67. PMID: 19617843.
 

Collaborations

  1. African American Type 2 Diabetes Genetics Consortium (MEDIA): Don Bowden (Wake Forest) leads a collaborative group of ~12 sites including Northwestern and Vanderbilt. This consortium conducted a meta-analysis of genomic determinants of Type 2 Diabetes in African Americans. Paper is submitted to Nature Genetics, with multiple eMERGE investigators and the eMERGE consortium represented as authors.
  2. GIANT Consortium: Meta-analysis of height from >100,000 subjects across multiple studies.  Awaiting draft of manuscript from consortium lead analysts.
  3. Height in African Americans (w/ Cincinnati Children’s Hospital)
  4. COGENT (Continental Origins of Genetic Traits): New meta-analysis consortium focused on African-American and Latino populations; NU participates in trait-specific working group (for height & RBC phenotypes)
  5. GIANT Consortium: meta-analysis of height from >100,000 subjects across multiple studies. 
  6. Vitamin D Related Innate Immunity in Influenza (with VU)
  7. PAGE (Population Architecture using Genomics and Epidemiology)
  8. CTSAwith Mayo (neutropenia and thrombocytopenia)
  9. CAGE (QRS in African Americans with VU)
  10. eMERGE Urological GWAS: RO1 application with University of Washington
  11. UCSF:  Genomewide Association Studies of HbA1c and Body Weight Change
    in Patients on Metformin for Type 2 Diabetes
  12. HAPO-GENEVA: meta-analysis of eMERGE African Ancestry with Afro-Caribs (for height phenotype)
  13. Vitamin D related Innate Immunity in Influenza (with VU)
  14. AAA Genotyping: collaboration with Geisinger
  15. De-ID Project (Anonymization of clinical codes in support of genome-phenome association studies)
  16. AAGILE/MEDIA:  Fasting Glucose meta-analysis
  17. Electronic Consent Project: collaboration with the University of Iowa
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