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
Grant acknowledgment text
Published PRS from eMERGE

Papers published by ‘eMERGE Consortium’

Shelley JP, Shi M, Peterson JF, Van Driest SL, Mosley JD. A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature. Research square. 2024 Oct 14;.

Obare LM, Bailin SS, Zhang X, Nthenge K, Wanjalla CN, et al. HIV persists in late coronary atheroma and is associated with increased local inflammation and disease progression. Research square. 2024 Oct 18;.

Guare LA, Humphrey LA, Rush M, Pollie M, Setia-Verma S, et al. Enhancing genetic association power in endometriosis through unsupervised clustering of clinical subtypes identified from electronic health records. Research square. 2024 Sep 9;.

Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Below JE, et al. Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. Nature communications. 2024 Aug 29;15(1):7507.

McGrail C, Sears TJ, Kudtarkar P, Carter H, Gaulton K. Genetic association and machine learning improves discovery and prediction of type 1 diabetes. medRxiv : the preprint server for health sciences. 2024 Aug 2;.

Jasper EA, Hellwege JN, Breeyear JH, Xiao B, Velez Edwards DR, et al. Genetic predictors of blood pressure traits are associated with preeclampsia. Scientific reports. 2024 Jul 30;14(1):17613.

Naderian M, Hamed ME, Vaseem AA, Norland K, Kullo IJ. Effect of disclosing a polygenic risk score for coronary heart disease on adverse cardiovascular events: 10-year follow-up of the MI-GENES randomized clinical trial. medRxiv : the preprint server for health sciences. 2024 Jul 19;.

Miller-Fleming TW, Allos A, Gantz E, Yu D, Davis LK. Developing a phenotype risk score for tic disorders in a large, clinical biobank. Translational psychiatry. 2024 Jul 28;14(1):311.

Strom NI, Verhulst B, Bacanu SA, Cheesman R, Hettema JM, et al. Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling. medRxiv : the preprint server for health sciences. 2024 Jul 5;.

Vue Z, Murphy A, Le H, Neikirk K, Hinton A Jr, et al. MICOS Complex Loss Governs Age-Associated Murine Mitochondrial Architecture and Metabolism in the Liver, While Sam50 Dictates Diet Changes. bioRxiv : the preprint server for biology. 2024 Jul 3;.

Ray NR, Kunkle BW, Hamilton-Nelson K, Kurup JT, Reitz C, et al. Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2024 Aug;20(8):5247-5261.

Middha P, Thummalapalli R, Quandt Z, Balaratnam K, Ziv E, et al. Germline prediction of immune checkpoint inhibitor discontinuation for immune-related adverse events. medRxiv : the preprint server for health sciences. 2024 Jun 11;.

Saadatagah S, Naderian M, Dikilitas O, Hamed ME, Kullo IJ. Polygenic Risk, Rare Variants, and Family History: Independent and Additive Effects on Coronary Heart Disease. JACC. Advances. 2023 Sep;2(7):100567.

Cruchaga C, Bradley J, Western D, Wang C, Charles F. and Joanne Knight Alzheimer’s disease research center Knight ADRC, et al. Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways. Research square. 2024 Jun 5;.

Moore A, Ritchie MD. Cross-phenotype associations between Alzheimer's Disease and its comorbidities may provide clues to progression. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science. 2024;2024:623-631.

Bagheri M, Bombin A, Shi M, Murthy VL, Ferguson JF. Genotype-based "virtual" metabolomics in a clinical biobank identifies novel metabolite-disease associations. Frontiers in genetics. 2024;15:1392622.

Belloy ME, Guen YL, Stewart I, Herz J, Greicius MD, et al. The Role of X Chromosome in Alzheimer's Disease Genetics. medRxiv : the preprint server for health sciences. 2024 Apr 23;.

Strom NI, Gerring ZF, Galimberti M, Yu D, Mattheisen M, et al. Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci. medRxiv : the preprint server for health sciences. 2024 Mar 13;.

Lin YC, Zhang S, Vessels T, Bastarache L, Xu Y, et al. Overcome the Limitation of Phenome-Wide Association Studies (PheWAS): Extension of PheWAS to Efficient and Robust Large-Scale ICD Codes Analysis. medRxiv : the preprint server for health sciences. 2024 Apr 19;.

Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Fullerton SM, et al. Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. American journal of human genetics. 2024 Jun 6;111(6):999-1005.

Mosley JD, Shelley JP, Dickson AL, Zanussi J, Kawai VK, et al. Clinical associations with a polygenic predisposition to benign lower white blood cell counts. Nature communications. 2024 Apr 22;15(1):3384.

Vessels T, Strayer N, Lee H, Choi KW, Ruderfer DM. Integrating Electronic Health Records and Polygenic Risk to Identify Genetically Unrelated Comorbidities of Schizophrenia That May Be Modifiable. Biological psychiatry global open science. 2024 May;4(3):100297.

Hui D, Dudek S, Kiryluk K, Walunas TL, Ritchie MD, et al. Risk factors affecting polygenic score performance across diverse cohorts. medRxiv : the preprint server for health sciences. 2024 Apr 10;.

Kresge HA, Blostein F, Goleva S, Albiñana C, Davis LK. Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration. Twin research and human genetics : the official journal of the International Society for Twin Studies. 2024 Apr;27(2):69-79.

Toikumo S, Jennings MV, Pham BK, Lee H, Sanchez-Roige S, et al. Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes. Nature human behaviour. 2024 Jun;8(6):1177-1193.

Breeyear JH, Mautz BS, Keaton JM, Hellwege JN, Edwards TL, et al. A new test for trait mean and variance detects unreported loci for blood-pressure variation. American journal of human genetics. 2024 May 2;111(5):954-965.

Strayer N, Vessels T, Choi K, Zhang S, Xu Y, et al. Interoperability of phenome-wide multimorbidity patterns: a comparative study of two large-scale EHR systems. medRxiv : the preprint server for health sciences. 2024 May 27;.

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

Wesseldijk LW, Henechowicz TL, Baker DJ, Bignardi G, Fisher SE. Notes from Beethoven's genome. Current biology : CB. 2024 Mar 25;34(6):R233-R234.

Irvin MR, Ge T, Patki A, Srinivasasainagendra V, Tiwari HK, et al. Polygenic Risk for Type 2 Diabetes in African Americans. Diabetes. 2024 Jun 1;73(6):993-1001.

Katsumata Y, Fardo DW, Shade LMP, Wu X, National Alzheimer's Coordinating Center, et al. Genetic associations with dementia-related proteinopathy: Application of item response theory. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2024 Apr;20(4):2906-2921.

Smith JL, Tcheandjieu C, Dikilitas O, Iyer K, Kullo IJ, et al. 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 Jun;17(3):e004272.

Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Kenny EE, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. Genetic Sex Validation for Sample Tracking in Clinical Testing. Research square. 2023 Sep 11;.

Lancaster MC, Chen HH, Shoemaker MB, Fleming MR, Below JE, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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 *, et al. 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, et al. 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.

Partanen JJ, Häppölä P, Zhou W, Lehisto AA, Koskela JT, et al. Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics. Cell genomics. 2022 Oct 12;2(10):100181.

Khunsriraksakul C, Li Q, Markus H, Patrick MT, Liu DJ, et al. 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, et al. 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.

Broadaway KA, Yin X, Williamson A, Parsons VA, Mohlke KL, et al. Loci for insulin processing and secretion provide insight into type 2 diabetes risk. American journal of human genetics. 2023 Feb 2;110(2):284-299.

Linder JE, Allworth A, Bland HT, Caraballo PJ, Peterson JF, et al. 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.

Craig SJC, Kenney AM, Lin J, Paul IM, Makova KD. Constructing a polygenic risk score for childhood obesity using functional data analysis. Econometrics and statistics. 2023 Jan;25:66-86.

Hui D, Xiao B, Dikilitas O, Freimuth RR, Ritchie MD, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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, et al. 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. 2023 Mar;19(3):896-908.

Ge T, Irvin MR, Patki A, Srinivasasainagendra V, Karlson EW, et al. 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, et al. 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.

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