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.

eMERGE Network Publication policy_20230911– Last updated: September 11, 2023
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Published PRS from eMERGE

eMERGE Publications

Middha P, Thummalapalli R, Betti MJ, Yao L, Ziv E, . Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis. Nature communications. 2024 Mar 26;15(1):2568.

Smith JL, Tcheandjieu C, Dikilitas O, Iyer K, Kullo IJ, . Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. Circulation. Genomic and precision medicine. 2024 Feb 21;:e004272.

Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Kenny EE, . Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature medicine. 2024 Feb;30(2):480-487.

Li R, Benz L, Duan R, Denny JC, Chen Y, . mixWAS: An efficient distributed algorithm for mixed-outcomes genome-wide association studies. medRxiv : the preprint server for health sciences. 2024 Jan 10;.

Norland K, Schaid DJ, Naderian M, Na J, Kullo IJ. Joint Association of Polygenic Risk and Social Determinants of Health with Coronary Heart Disease in the United States. medRxiv : the preprint server for health sciences. 2024 Jan 11;.

Meng X, Navoly G, Giannakopoulou O, Levey DF, Kuchenbaecker K, . Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference. Nature genetics. 2024 Feb;56(2):222-233.

Agrawal V, Manouchehri A, Vaitinadin NS, Shi M, Mosley JD, . Identification of Clinical Drivers of Left Atrial Enlargement Through Genomics of Left Atrial Size. Circulation. Heart failure. 2024 Jan;17(1):e010557.

Coombes BJ, Landi I, Choi KW, Singh K, Biernacka JM, . The genetic contribution to the comorbidity of depression and anxiety: a multi-site electronic health records study of almost 178 000 people. Psychological medicine. 2023 Nov;53(15):7368-7374.

Gupta Y, Friedman DJ, McNulty MT, Khan A, Sanna-Cherchi S, . Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nature communications. 2023 Nov 30;14(1):7836.

Moore A, Ritchie MD. Cross-phenotype associations between Alzheimer's Disease and its comorbidities may provide clues to progression. medRxiv : the preprint server for health sciences. 2023 Nov 7;.

Archer DB, Eissman JM, Mukherjee S, Lee ML, Hohman TJ, . Longitudinal change in memory performance as a strong endophenotype for Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2024 Feb;20(2):1268-1283.

Morley TJ, Willimitis D, Ripperger M, Lee H, Ruderfer DM, . Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models. medRxiv : the preprint server for health sciences. 2023 Nov 1;.

Ferar K, Hall TO, Crawford DC, Rowley R, Crosslin DR, . Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Scientific reports. 2023 Oct 28;13(1):18532.

Linder JE, Tao R, Chung WK, Kiryluk K, Peterson JF, . Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. American journal of human genetics. 2023 Nov 2;110(11):1950-1958.

Shi M, Shelley JP, Schaffer KR, Tosoian JJ, Mosley JD. Clinical consequences of a genetic predisposition toward higher benign prostate-specific antigen levels. EBioMedicine. 2023 Nov;97:104838.

Roychowdhury T, Klarin D, Levin MG, Spin JM, Damrauer SM, . Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target. Nature genetics. 2023 Nov;55(11):1831-1842.

Bagheri M, Bombin A, Shi M, Murthy VL, Ferguson JF. Genotype-based "virtual" metabolomics in a clinical biobank identifies novel metabolite-disease associations. Research square. 2023 Oct 11;.

Hu J, Korchina V, Zouk H, Harden MV, Muzny DM, . Genetic Sex Validation for Sample Tracking in Clinical Testing. Research square. 2023 Sep 11;.

Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Below JE, . Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome. Research square. 2023 Sep 15;.

Mantyh WG, Cochran JN, Taylor JW, Broce IJ, Yokoyama JS, . Early-onset Alzheimer's disease explained by polygenic risk of late-onset disease? Alzheimer's & dementia (Amsterdam, Netherlands). 2023 Oct-Dec;15(4):e12482.

Norland K, Schaid DJ, Kullo IJ. A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease. European journal of human genetics : EJHG. 2024 Feb;32(2):209-214.

Thorpe HHA, Fontanillas P, Pham BK, Meredith JJ, Sanchez-Roige S, . Genome-Wide Association Studies of Coffee Intake in UK/US Participants of European Ancestry Uncover Gene-Cohort Influences. medRxiv : the preprint server for health sciences. 2023 Sep 11;.

Hicks EM, Niarchou M, Goleva S, Kabir D, Choi KW, . Comorbidity Profiles of Posttraumatic Stress Disorder Across the Medical Phenome. medRxiv : the preprint server for health sciences. 2023 Aug 28;.

Pividori M, Lu S, Li B, Su C, Greene CS, . Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms. Nature communications. 2023 Sep 9;14(1):5562.

Mosley JD, Shelley JP, Dickson AL, Zanussi J, Kawai VK, . Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics. medRxiv : the preprint server for health sciences. 2023 Aug 21;.

Peixoto de Barcelos I, Li D, Watson D, M McCormick E, Hakonarson H. Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient. Brain sciences. 2023 Aug 16;13(8).

Dato S, De Rango F, Crocco P, Pallotti S, Napolioni V. Sex- and APOE-specific genetic risk factors for late-onset Alzheimer's disease: Evidence from gene-gene interaction of longevity-related loci. Aging cell. 2023 Sep;22(9):e13938.

Smith JL, Tcheandjieu C, Dikilitas O, Lyer K, Kullo IJ, . A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. medRxiv : the preprint server for health sciences. 2023 Jun 6;.

Sun Q, Rowland B, Wang W, Miller-Fleming TW, Raffield LM, . Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. Blood cells, molecules & diseases. 2023 Nov;103:102782.

Zhang S, Strayer N, Vessels T, Choi K, Xu Y, . PheMIME: An Interactive Web App and Knowledge Base for Phenome-Wide, Multi-Institutional Multimorbidity Analysis. medRxiv : the preprint server for health sciences. 2023 Jul 30;.

Bagheri M, Agrawal V, Annis J, Shi M, Brittain EL. Genetics of Pulmonary Pressure and Right Ventricle Stress Identify Diabetes as a Causal Risk Factor. Journal of the American Heart Association. 2023 Aug;12(15):e029190.

Wilson JE, Sealock J, Straub P, Raman R, Davis LK. Exploring genetic risk for catatonia in a genome wide association study and polygenic risk score analysis. Schizophrenia research. 2024 Jan;263:178-190.

Bangash H, Elsekaily O, Saadatagah S, Sutton J, Kullo IJ. Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia. Journal of personalized medicine. 2023 May 31;13(6).

Clayton EW, Smith ME, Anderson KC, Chung WK, Holm IA, . Studying the impact of translational genomic research: Lessons from eMERGE. American journal of human genetics. 2023 Jul 6;110(7):1021-1033.

Vessels T, Strayer N, Choi KW, Lee H, Ruderfer DM. Identifying modifiable comorbidities of schizophrenia by integrating electronic health records and polygenic risk. medRxiv : the preprint server for health sciences. 2023 Jun 5;.

Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Kenny E, . Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. medRxiv : the preprint server for health sciences. 2023 Jun 5;.

Grotzinger AD, Singh K, Miller-Fleming TW, Lam M, Smoller JW. Transcriptome-Wide Structural Equation Modeling of 13 Major Psychiatric Disorders for Cross-Disorder Risk and Drug Repurposing. JAMA psychiatry. 2023 Aug 1;80(8):811-821.

Middha P, Thummalapalli R, Betti MJ, Yao L, Ziv E, . Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis. medRxiv : the preprint server for health sciences. 2023 Sep 13;.

Robinson-Cohen C, Triozzi JL, Rowan B, He J, Hung AM, . Genome-Wide Association Study of CKD Progression. Journal of the American Society of Nephrology : JASN. 2023 Sep 1;34(9):1547-1559.

Li D, Farrell JJ, Mez J, Martin ER, Farrer LA, . Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2023 Dec;19(12):5550-5562.

Actkins KV, Jean-Pierre G, Aldrich MC, Velez Edwards DR, Davis LK. Sex modifies the effect of genetic risk scores for polycystic ovary syndrome on metabolic phenotypes. PLoS genetics. 2023 May;19(5):e1010764.

Connolly JJ, Berner ES, Smith M, Levy S, Sabatello M, . Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Genetics in medicine : official journal of the American College of Medical Genetics. 2023 Sep;25(9):100906.

Smith JL, Schaid DJ, Kullo IJ. Implementing Reporting Standards for Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease. Current atherosclerosis reports. 2023 Jun;25(6):323-330.

Joo YY, Pacheco JA, Thompson WK, Rasmussen-Torvik LJ, Kho AN, . Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm. PloS one. 2023;18(5):e0283553.

Amancherla K, Schlendorf KH, Vlasschaert C, Lowery BD, Clerkin K, . Clonal hematopoiesis of indeterminate potential and outcomes after heart transplantation: A multicenter study. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 2023 Aug;23(8):1256-1263.

Glessner JT, Khan ME, Chang X, Liu Y, Hakonarson H, . Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. Journal of neurodevelopmental disorders. 2023 Apr 29;15(1):14.

Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kullo IJ, . Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circulation. Genomic and precision medicine. 2023 Apr;16(2):e003816.

Vaitinadin NS, Stein CM, Mosley JD, Kawai VK. Genetic susceptibility for autoimmune diseases and white blood cell count. Scientific reports. 2023 Apr 11;13(1):5852.

Yu Chen H, Dina C, Small AM, Shaffer CM, Thanassoulis G, . Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study. European heart journal. 2023 Jun 1;44(21):1927-1939.

Toikumo S, Jennings MV, Pham BK, Lee H, Sanchez-Roige S, . Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes. medRxiv : the preprint server for health sciences. 2023 Sep 18;.

Singhal P, Veturi Y, Dudek SM, Lucas A, Verma SS, . Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets. American journal of human genetics. 2023 Apr 6;110(4):575-591.

Schaffer KR, Shi M, Shelley JP, Tosoian JJ, Mosley JD. A Polygenic Risk Score for Prostate Cancer Risk Prediction. JAMA internal medicine. 2023 Apr 1;183(4):386-388.

Miller-Fleming TW, Allos A, Gantz E, Yu D, Davis LK. Developing a Phenotype Risk Score for Tic Disorders in a Large, Clinical Biobank. medRxiv : the preprint server for health sciences. 2023 Feb 23;.

Xiao B, Velez Edwards DR, Lucas A, Drivas T, Regeneron Genetics Center *, . Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions. Journal of the American Heart Association. 2023 Mar 7;12(5):e026561.

Small AM, Peloso GM, Linefsky J, Aragam J, O'Donnell CJ, . Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. Circulation. 2023 Mar 21;147(12):942-955.

Khunsriraksakul C, Li Q, Markus H, Patrick MT, Liu DJ, . Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus. Nature communications. 2023 Feb 7;14(1):668.

Pacheco JA, Rasmussen LV, Wiley K Jr, Person TN, Wei W, . Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network. Scientific reports. 2023 Feb 3;13(1):1971.

Pacyna JE, Ennis JS, Kullo IJ, Sharp RR. Examining the Impact of Polygenic Risk Information in Primary Care. Journal of primary care & community health. 2023 Jan-Dec;14:21501319231151766.

Ramsey LB, Prows CA, Chidambaran V, Sadhasivam S, Glauser TA. Implementation of CYP2D6-guided opioid therapy at Cincinnati Children's Hospital Medical Center. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists. 2023 Jun 22;80(13):852-859.

Linder JE, Allworth A, Bland HT, Caraballo PJ, Peterson JF, . Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genetics in medicine : official journal of the American College of Medical Genetics. 2023 Apr;25(4):100006.

Hui D, Xiao B, Dikilitas O, Freimuth RR, Ritchie MD, . Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 2023;28:437-448.

Hellwege JN, Dorn C, Irvin MR, Limdi NA, Edwards TL, . Predictive models for abdominal aortic aneurysms using polygenic scores and PheWAS-derived risk factors. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 2023;28:425-436.

Nicoletti P, Dellinger A, Li YJ, Barnhart HX, Prospective European Drug-Induced Liver Injury (Pro-Euro DILI) Investigators, . Identification of Reduced ERAP2 Expression and a Novel HLA Allele as Components of a Risk Score for Susceptibility to Liver Injury Due to Amoxicillin-Clavulanate. Gastroenterology. 2023 Mar;164(3):454-466.

Brandt PS, Kho A, Luo Y, Pacheco JA, Rasmussen LV, . Characterizing variability of electronic health record-driven phenotype definitions. Journal of the American Medical Informatics Association : JAMIA. 2023 Feb 16;30(3):427-437.

Mack T, Sanchez-Roige S, Davis LK. Genetic investigation of the contribution of body composition to anorexia nervosa in an electronic health record setting. Translational psychiatry. 2022 Nov 19;12(1):486.

Song J, Forrest N, Gordon A, Kottyan L, Kho A. Utilization of electronic health record data to evaluate the association of urban environment with systemic lupus erythematosus symptoms. Rheumatology (Oxford, England). 2023 Jun 1;62(6):e180-e181.

Chung CP, Karakoc G, Liu G, Gamboa JL, Kawai V. Ancestry, ACKR1 and leucopenia in patients with systemic lupus erythematosus. Lupus science & medicine. 2022 Nov;9(1).

Obeng AO, Scott SA, Kaszemacher T, Ellis SB, Bottinger EP, . Prescriber Adoption of SLCO1B1 Genotype-Guided Simvastatin Clinical Decision Support in a Clinical Pharmacogenetics Program. Clinical pharmacology and therapeutics. 2023 Feb;113(2):321-327.

Robinson JR, Carroll RJ, Bastarache L, Chen Q, Denny JC, . Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity (Silver Spring, Md.). 2022 Dec;30(12):2477-2488.

Glessner JT, Li J, Liu Y, Khan M, Hakonarson H. ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies. European journal of human genetics : EJHG. 2023 Mar;31(3):304-312.

Saad M, El-Menyar A, Kunji K, Ullah E, Kullo IJ. Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing. Circulation. Genomic and precision medicine. 2022 Dec;15(6):e003712.

Yengo L, Vedantam S, Marouli E, Sidorenko J, Hirschhorn JN, . A saturated map of common genetic variants associated with human height. Nature. 2022 Oct;610(7933):704-712.

Katsumata Y, Shade LM, Hohman TJ, Schneider JA, Nelson PT. Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities. Neurobiology of disease. 2022 Nov;174:105880.

Miller AA, Bangash H, Smith CY, Wood-Wentz CM, Kullo IJ. A pragmatic clinical trial of cascade testing for familial hypercholesterolemia. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Dec;24(12):2535-2543.

Alexander MR, Hank S, Dale BL, Himmel L, Madhur MS, . A Single Nucleotide Polymorphism in SH2B3/LNK Promotes Hypertension Development and Renal Damage. Circulation research. 2022 Oct 14;131(9):731-747.

Abraham A, Le B, Kosti I, Straub P, Capra JA, . Dense phenotyping from electronic health records enables machine learning-based prediction of preterm birth. BMC medicine. 2022 Sep 28;20(1):333.

Chalasani N, Li YJ, Dellinger A, Navarro V, Drug Induced Liver Injury Network, . Clinical features, outcomes, and HLA risk factors associated with nitrofurantoin-induced liver injury. Journal of hepatology. 2023 Feb;78(2):293-300.

Chang X, March M, Mentch F, Qu H, Hakonarson H. Genetic architecture of asthma in African American patients. The Journal of allergy and clinical immunology. 2023 Apr;151(4):1132-1136.

Sherafati A, Elsekaily O, Saadatagah S, Kochan DC, Kullo IJ, . Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Oct;24(10):2123-2133.

Tcheandjieu C, Zhu X, Hilliard AT, Clarke SL, Assimes TL, . Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. Nature medicine. 2022 Aug;28(8):1679-1692.

Akwo E, Pike MM, Ertuglu LA, Vartanian N, Robinson-Cohen C, . Association of Genetically Predicted Fibroblast Growth Factor-23 with Heart Failure: A Mendelian Randomization Study. Clinical journal of the American Society of Nephrology : CJASN. 2022 Aug;17(8):1183-1193.

Bagheri M, Chung CP, Dickson AL, Van Driest SL, Mosley JD. White blood cell ranges and frequency of neutropenia by Duffy genotype status. Blood advances. 2023 Feb 14;7(3):406-409.

Mallard TT, Linnér RK, Grotzinger AD, Sanchez-Roige S, Harden KP, . Multivariate GWAS of psychiatric disorders and their cardinal symptoms reveal two dimensions of cross-cutting genetic liabilities. Cell genomics. 2022 Jun 8;2(6).

Dikilitas O, Schaid DJ, Tcheandjieu C, Clarke SL, Kullo IJ. Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations. Current cardiology reports. 2022 Sep;24(9):1169-1177.

Ji Y, Wei Q, Chen R, Wang Q, Li B. Integration of multidimensional splicing data and GWAS summary statistics for risk gene discovery. PLoS genetics. 2022 Jun;18(6):e1009814.

Chung J, Das A, Sun X, Sobreira DR, Farrer LA, . Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2022 Jun 30;.

Ge T, Irvin MR, Patki A, Srinivasasainagendra V, Karlson EW, . Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. Genome medicine. 2022 Jun 29;14(1):70.

Ghouse J, Tragante V, Muhammad A, Ahlberg G, Olesen MS, . Polygenic risk score for ACE-inhibitor-associated cough based on the discovery of new genetic loci. European heart journal. 2022 Dec 1;43(45):4707-4718.

Dickson AL, Daniel LL, Jackson E, Zanussi J, Chung CP, . Race, Genotype, and Azathioprine Discontinuation : A Cohort Study. Annals of internal medicine. 2022 Aug;175(8):1092-1099.

Gorski M, Rasheed H, Teumer A, Thomas LF, Heid IM, . Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies. Kidney international. 2022 Sep;102(3):624-639.

Niarchou M, Gustavson DE, Sathirapongsasuti JF, Anglada-Tort M, Gordon RL, . Genome-wide association study of musical beat synchronization demonstrates high polygenicity. Nature human behaviour. 2022 Sep;6(9):1292-1309.

Zhang X, Lucas AM, Veturi Y, Drivas TG, Ritchie MD, . Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. Nature communications. 2022 Jun 14;13(1):3428.

Jones AV, MacGregor S, Han X, Francis J, Waheed N. Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization. Ophthalmology science. 2022 Jun;2(2).

Slaby I, Hain HS, Abrams D, Mentch FD, Hakonarson H. An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities. Journal of neurodevelopmental disorders. 2022 Jun 11;14(1):37.

Vaitinadin NS, Shi M, Shaffer CM, Farber-Eger E, Mosley JD. Genetic Determinants of Body Mass Index and Fasting Glucose Are Mediators of Grade 1 Diastolic Dysfunction. Journal of the American Heart Association. 2022 Jun 7;11(11):e025578.

Shi M, Wang C, Mei H, Temprosa M, Diabetes Prevention Program Research Group, . Genetic Architecture of Plasma Alpha-Aminoadipic Acid Reveals a Relationship With High-Density Lipoprotein Cholesterol. Journal of the American Heart Association. 2022 Jun 7;11(11):e024388.

Namjou B, Lape M, Malolepsza E, DeVore SB, eMERGE Network, . Multiancestral polygenic risk score for pediatric asthma. The Journal of allergy and clinical immunology. 2022 Nov;150(5):1086-1096.

Shadrina AS, Elgaeva EE, Stanaway IB, Jarvik GP, Tsepilov YA. Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities. PloS one. 2022;17(5):e0268725.

Taub MA, Conomos MP, Keener R, Iyer KR, Mathias RA, . Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell genomics. 2022 Jan 12;2(1).

Sunthankar SD, Kannankeril PJ, Gaedigk A, Radbill AE, Van Driest SL. Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population. Clinical and translational science. 2022 Jul;15(7):1787-1795.

Heath L, Earls JC, Magis AT, Kornilov SA, Alzheimer’s Disease Genetics Consortium, . Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90. Scientific reports. 2022 Apr 12;12(1):6117.

Liu M, Shaver CM, Birdwell KA, Heeney SA, Van Driest SL. Composite CYP3A phenotypes influence tacrolimus dose-adjusted concentration in lung transplant recipients. Pharmacogenetics and genomics. 2022 Jul 1;32(5):209-217.

Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Lambert JC, . New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature genetics. 2022 Apr;54(4):412-436.

Karnes JH, Rollin J, Giles JB, Martinez KL, Roden DM, . ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia. Blood. 2022 Jul 21;140(3):274-284.

Kullo IJ, Lewis CM, Inouye M, Martin AR, Chatterjee N. Polygenic scores in biomedical research. Nature reviews. Genetics. 2022 Sep;23(9):524-532.

Li J, Li YR, Glessner JT, Yang J, Hakonarson H, . Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis. Arthritis & rheumatology (Hoboken, N.J.). 2022 Aug;74(8):1420-1429.

Wang L, Scherer SE, Bielinski SJ, Muzny DM, Weinshilboum RM, . Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 May;24(5):1062-1072.

Kullo IJ. Polygenic risk score for peripheral artery disease: A tool to refine risk stratification. Vascular medicine (London, England). 2022 Jun;27(3):228-229.

Rowland B, Sun Q, Wang W, Miller-Fleming T, Raffield LM, . Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19. medRxiv : the preprint server for health sciences. 2022 Feb 28;.

Jasra S, Giricz O, Zeig-Owens R, Pradhan K, Verma A, . High burden of clonal hematopoiesis in first responders exposed to the World Trade Center disaster. Nature medicine. 2022 Mar;28(3):468-471.

Pathak GA, Singh K, Wendt FR, Fleming TW, Polimanti R, . Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits. Molecular psychiatry. 2022 Mar;27(3):1394-1404.

Piekos JA, Hellwege JN, Zhang Y, Torstenson ES, Velez Edwards DR, . Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid. Human genetics. 2022 Nov;141(11):1739-1748.

Leppig KA, Kulchak Rahm A, Appelbaum P, Aufox S, Wiesner GL, . The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 May;24(5):1130-1138.

Jin B, Capra JA, Benchek P, Wheeler N, Bush WS, . An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns. Genome research. 2022 Apr;32(4):778-790.

Jun GR, You Y, Zhu C, Meng G, Farrer LA, . Protein phosphatase 2A and complement component 4 are linked to the protective effect of APOE ɛ2 for Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2022 Nov;18(11):2042-2054.

Belloy ME, Eger SJ, Le Guen Y, Damotte V, Greicius MD, . Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping. Alzheimer's research & therapy. 2022 Feb 4;14(1):22.

Daniel LL, Dickson AL, Zanussi JT, Miller-Fleming TW, Chung CP, . Predicted expression of genes involved in the thiopurine metabolic pathway and azathioprine discontinuation due to myelotoxicity. Clinical and translational science. 2022 Apr;15(4):859-865.

Neupane A, Lenny B, Budde JP, Wang F, Fernández MV. Replication study of AD-associated rare variants. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2022 Apr;18(4):858-862.

Lopes GS, Lopes JL, Bielinski SJ, Armasu SM, Larson NB, . Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota. The pharmacogenomics journal. 2022 Mar;22(2):117-123.

Yu J, Pacheco JA, Ghosh AS, Luo Y, Rasmussen LV, . Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions. BMC medical informatics and decision making. 2022 Jan 28;22(1):23.

Lopes JL, Harris K, Karow MB, Peterson SE, Moyer AM, . Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing? The Journal of molecular diagnostics : JMD. 2022 Mar;24(3):253-261.

Williams ML, Weeks HL, Beck C, Birdwell KA, Choi L. Sensitivity of estimated tacrolimus population pharmacokinetic profile to assumed dose timing and absorption in real-world data and simulated data. British journal of clinical pharmacology. 2022 Jun;88(6):2863-2874.

Overway EM, Bosma KJ, Claxton DP, Oeser JK, O'Brien RM. Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose. The Journal of biological chemistry. 2022 Feb;298(2):101534.

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Denny JC, Ritchie MD, Basford MA, Pulley JM, Crawford DC. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (Oxford, England). 2010 May 1;26(9):1205-10.

Lemke AA, Trinidad SB, Edwards KL, Starks H, GRRIP Consortium. Attitudes toward genetic research review: results from a national survey of professionals involved in human subjects protection. Journal of empirical research on human research ethics : JERHRE. 2010 Mar;5(1):83-91.

Chute CG, Beck SA, Fisk TB, Mohr DN. The Enterprise Data Trust at Mayo Clinic: a semantically integrated warehouse of biomedical data. Journal of the American Medical Informatics Association : JAMIA. 2010 Mar-Apr;17(2):131-5.

Xu H, Stenner SP, Doan S, Johnson KB, Denny JC. MedEx: a medication information extraction system for clinical narratives. Journal of the American Medical Informatics Association : JAMIA. 2010 Jan-Feb;17(1):19-24.

Malin B, Karp D, Scheuermann RH. Technical and policy approaches to balancing patient privacy and data sharing in clinical and translational research. Journal of investigative medicine : the official publication of the American Federation for Clinical Research. 2010 Jan;58(1):11-8.

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Lemke AA, Wu JT, Waudby C, Pulley J, Trinidad SB. Community engagement in biobanking: Experiences from the eMERGE Network. Genomics, society, and policy. 2010;6(3):50.

Grady BJ, Torstenson E, Dudek SM, Giles J, Ritchie MD. Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 2010;:315-26.

Ding K, Kullo IJ. Genome-wide association studies for atherosclerotic vascular disease and its risk factors. Circulation. Cardiovascular genetics. 2009 Feb;2(1):63-72.

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.

Sohn S, Savova GK. Mayo clinic smoking status classification system: extensions and improvements. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2009 Nov 14;2009:619-23.

Pacheco JA, Avila PC, Thompson JA, Law M, Kho A. A highly specific algorithm for identifying asthma cases and controls for genome-wide association studies. AMIA ... Annual Symposium proceedings. AMIA Symposium. 2009 Nov 14;2009:497-501.

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