Joshua Denny

Q: What Schools Are Affiliated With Joshua Denny

Joshua Denny is affiliated with the following schools: Vanderbilt University, Stanford University, University of North Carolina at Chapel Hill, University of Alabama at Birmingham

Joshua Denny's AcademicInfluence.com Rankings

Joshua Denny

Computer Science

#6316

World Rank

#6662

Historical Rank

#1626

USA Rank

Informatics

#36

World Rank

#37

Historical Rank

USA Rank

computer-science Degrees

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Computer Science

Joshua Denny's Degrees

Doctorate Medicine University of Alabama at Birmingham
Masters Biomedical Informatics Stanford University

Why Is Joshua Denny Influential?

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According to Wikipedia, Joshua Charles Denny is an American physician and medical researcher who is the chief executive officer of the All of Us research program at the National Institutes of Health, where he has worked since 2020. He previously served as Professor of Biomedical Informatics and Medicine, founding Director of the Center for Precision Medicine, and Vice President for Personalized Medicine at Vanderbilt University Medical Center. He is an elected member of the National Academy of Medicine, the American Society for Clinical Investigation, and the American College of Medical Informatics.

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Joshua Denny's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genetics of rheumatoid arthritis contributes to biology and drug discovery (2013) (1877)
Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
A gene-based association method for mapping traits using reference transcriptome data (2015) (1160)
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations (2010) (893)
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data (2013) (763)
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies (2017) (633)
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future (2013) (596)
The "All of Us" Research Program. (2019) (530)
Application of information technology: MedEx: a medication information extraction system for clinical narratives (2010) (499)
Exome-wide association study of plasma lipids in >300,000 individuals (2017) (428)
Multi-ethnic genome-wide association study for atrial fibrillation (2018) (425)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Artificial intelligence, bias and clinical safety (2019) (386)
Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium (2011) (333)
Data from clinical notes: a perspective on the tension between structure and flexible documentation (2011) (329)
Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. (2013) (321)
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. (2010) (316)
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (2016) (309)
Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data (2013) (291)
Inactivating mutations in NPC1L1 and protection from coronary heart disease. (2014) (289)
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study (2017) (283)
R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment (2014) (276)
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study (2012) (259)
A study of machine-learning-based approaches to extract clinical entities and their assertions from discharge summaries (2011) (256)
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability (2016) (255)
Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing (2013) (255)
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals (2018) (249)
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. (2011) (248)
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation (2017) (243)
The phenotypic legacy of admixture between modern humans and Neandertals (2016) (235)
Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. (2013) (217)
Portability of an algorithm to identify rheumatoid arthritis in electronic health records (2012) (212)
Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention. (2018) (210)
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins (2014) (207)
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation (2019) (205)
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record (2017) (205)
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease (2017) (204)
Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems (2014) (196)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
Chapter 13: Mining Electronic Health Records in the Genomics Era (2012) (180)
The IGNITE network: a model for genomic medicine implementation and research (2015) (180)
Validating drug repurposing signals using electronic health records: a case study of metformin associated with reduced cancer mortality (2014) (179)
Extracting research-quality phenotypes from electronic health records to support precision medicine (2015) (178)
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. (2016) (170)
Rubik: Knowledge Guided Tensor Factorization and Completion for Health Data Analytics (2015) (167)
Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk (2013) (163)
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. (2016) (155)
Limestone: High-throughput candidate phenotype generation via tensor factorization (2014) (153)
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns (2018) (147)
Combining billing codes, clinical notes, and medications from electronic health records provides superior phenotyping performance (2016) (146)
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations (2017) (145)
Identification of Genomic Predictors of Atrioventricular Conduction: Using Electronic Medical Records as a Tool for Genome Science (2010) (133)
Research Paper: "Understanding" Medical School Curriculum Content Using KnowledgeMap (2003) (131)
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects (2013) (130)
Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene (2014) (128)
SJS/TEN 2017: Building Multidisciplinary Networks to Drive Science and Translation. (2018) (126)
Research Paper: Evaluation of a Method to Identify and Categorize Section Headers in Clinical Documents (2009) (124)
The disclosure of diagnosis codes can breach research participants' privacy (2010) (123)
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network (2012) (123)
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes (2015) (121)
A hybrid system for temporal information extraction from clinical text (2013) (118)
A study of active learning methods for named entity recognition in clinical text (2015) (117)
Big Data Science: Opportunities and Challenges to Address Minority Health and Health Disparities in the 21st Century. (2017) (116)
Biobanks and Electronic Medical Records: Enabling Cost-Effective Research (2014) (114)
Joint mouse–human phenome-wide association to test gene function and disease risk (2016) (112)
Desiderata for computable representations of electronic health records-driven phenotype algorithms (2015) (111)
Learning from Longitudinal Data in Electronic Health Record and Genetic Data to Improve Cardiovascular Event Prediction (2018) (110)
Importance of multi-modal approaches to effectively identify cataract cases from electronic health records (2012) (110)
Naïve Electronic Health Record phenotype identification for Rheumatoid arthritis. (2011) (110)
Applying active learning to high-throughput phenotyping algorithms for electronic health records data. (2013) (106)
TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits (2015) (105)
Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia. (2015) (104)
The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients (2012) (104)
Type 2 Diabetes Risk Forecasting from EMR Data using Machine Learning (2012) (103)
Development and evaluation of an ensemble resource linking medications to their indications (2013) (102)
Electronic health record design and implementation for pharmacogenomics: a local perspective (2013) (101)
Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record. (2012) (100)
Precision medicine in 2030—seven ways to transform healthcare (2021) (100)
Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms. (2011) (95)
Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects (2018) (93)
Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls. (2013) (91)
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease (2019) (90)
Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network (2017) (90)
The KnowledgeMap Project: Development of a Concept-Based Medical School Curriculum Database (2003) (88)
Extracting and integrating data from entire electronic health records for detecting colorectal cancer cases. (2011) (87)
Development of Inpatient Risk Stratification Models of Acute Kidney Injury for Use in Electronic Health Records (2010) (85)
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records (2010) (84)
Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods (2016) (83)
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants (2017) (80)
Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin (2011) (78)
Integrating existing natural language processing tools for medication extraction from discharge summaries (2010) (76)
Extracting timing and status descriptors for colonoscopy testing from electronic medical records (2010) (76)
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis (2014) (76)
A comparative study of current clinical natural language processing systems on handling abbreviations in discharge summaries (2012) (74)
Opportunities for genomic clinical decision support interventions (2013) (72)
Attitudes of Clinicians Following Large-Scale Pharmacogenomics Implementation (2015) (72)
The "All of Us" Research Program. Reply. (2019) (71)
Diversity and inclusion for the All of Us research program: A scoping review (2020) (71)
eMERGEing progress in genomics—the first seven years (2014) (71)
Predicting changes in hypertension control using electronic health records from a chronic disease management program (2014) (67)
Mining 100 million notes to find homelessness and adverse childhood experiences: 2 case studies of rare and severe social determinants of health in electronic health records (2018) (67)
PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects (2019) (65)
Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. (2016) (65)
Benefit of Preemptive Pharmacogenetic Information on Clinical Outcome (2018) (65)
Comparative analysis of pharmacovigilance methods in the detection of adverse drug reactions using electronic medical records (2013) (65)
Development and Evaluation of a Clinical Note Section Header Terminology (2008) (65)
Knowledge-Driven Multi-Locus Analysis Reveals Gene-Gene Interactions Influencing HDL Cholesterol Level in Two Independent EMR-Linked Biobanks (2011) (64)
Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals (2017) (64)
Automatic identification of methotrexate-induced liver toxicity in patients with rheumatoid arthritis from the electronic medical record (2015) (64)
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (61)
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (2011) (61)
MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank (2018) (60)
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index (2014) (60)
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease (2018) (59)
Natural Language Processing Improves Identification of Colorectal Cancer Testing in the Electronic Medical Record (2012) (59)
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins (2018) (58)
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. (2015) (58)
Modulators of normal electrocardiographic intervals identified in a large electronic medical record. (2011) (57)
A comparison of rule-based and machine learning approaches for classifying patient portal messages (2017) (57)
Proceedings from the 9th annual conference on the science of dissemination and implementation (2017) (57)
Genetically determined serum urate levels and cardiovascular and other diseases in UK Biobank cohort: A phenome-wide mendelian randomization study (2019) (57)
Size matters: How population size influences genotype-phenotype association studies in anonymized data (2014) (56)
Genotype and risk of major bleeding during warfarin treatment. (2014) (54)
Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers (2020) (54)
Comparison of HLA allelic imputation programs (2017) (54)
Platelet Inhibitors Reduce Rupture in a Mouse Model of Established Abdominal Aortic Aneurysm (2015) (54)
A long journey to short abbreviations: developing an open-source framework for clinical abbreviation recognition and disambiguation (CARD) (2017) (52)
Design patterns for the development of electronic health record-driven phenotype extraction algorithms (2014) (51)
Identifying QT prolongation from ECG impressions using a general-purpose Natural Language Processor (2009) (51)
Role of carotid bodies in control of the neuroendocrine response to exercise. (2001) (50)
Building bridges across electronic health record systems through inferred phenotypic topics (2015) (50)
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. (2016) (50)
Transcription factor ETV1 is essential for rapid conduction in the heart. (2016) (50)
Developing Electronic Health Record Algorithms That Accurately Identify Patients With Systemic Lupus Erythematosus (2017) (49)
Teaching evidence-based medicine: Impact on students’ literature use and inpatient clinical documentation (2011) (49)
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype (2018) (48)
Automated extraction of clinical traits of multiple sclerosis in electronic medical records (2013) (48)
A genome-wide association study of heparin-induced thrombocyto - penia using an electronic medical record (2014) (48)
A Study of Transportability of an Existing Smoking Status Detection Module across Institutions (2012) (47)
High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOE (2012) (46)
Evaluation of a Prediction Model for the Development of Atrial Fibrillation in a Repository of Electronic Medical Records. (2016) (46)
CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies. (2015) (46)
An Evaluation of the NQF Quality Data Model for Representing Electronic Health Record Driven Phenotyping Algorithms (2012) (45)
Recognizing and Encoding Discorder Concepts in Clinical Text using Machine Learning and Vector Space Model (2013) (45)
PCSK 9 genetic variants and risk of type 2 diabetes : a mendelian randomisation study (2020) (45)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study. (2020) (45)
Representing Knowledge Consistently Across Health Systems (2017) (45)
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder (2016) (45)
Generating Clinical Notes for Electronic Health Record Systems (2010) (44)
Identifying lupus patients in electronic health records: Development and validation of machine learning algorithms and application of rule-based algorithms. (2019) (44)
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. (2017) (44)
Phenome-wide Mendelian-randomization study of genetically determined vitamin D on multiple health outcomes using the UK Biobank study (2019) (43)
Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults (2017) (43)
Facilitating phenotype transfer using a common data model (2019) (43)
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network (2015) (42)
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 (2013) (42)
Practical considerations in genomic decision support: The eMERGE experience (2015) (42)
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program (2020) (41)
SecureMA: protecting participant privacy in genetic association meta-analysis (2014) (40)
Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. (2017) (40)
An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. (2018) (39)
A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network (2015) (38)
Detecting abbreviations in discharge summaries using machine learning methods. (2011) (38)
Identifying UMLS concepts from ECG Impressions using Knowledge Map (2005) (37)
Detecting temporal expressions in medical narratives (2013) (37)
The Influence of Big (Clinical) Data and Genomics on Precision Medicine and Drug Development (2018) (36)
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network (2014) (35)
Phenome‐Wide Association Study of Rheumatoid Arthritis Subgroups Identifies Association Between Seronegative Disease and Fibromyalgia (2017) (35)
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci (2014) (34)
Genome‐wide and Phenome‐wide Approaches to Understand Variable Drug Actions in Electronic Health Records (2017) (34)
The All of Us Research Program: Data quality, utility, and diversity (2020) (34)
Automated identification of drug and food allergies entered using non-standard terminology (2013) (34)
Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis (2018) (34)
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (2016) (34)
Developing and Evaluating Mappings of ICD-10 and ICD-10-CM Codes to Phecodes (2018) (33)
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics. (2017) (33)
Review and evaluation of electronic health records-driven phenotype algorithm authoring tools for clinical and translational research (2015) (33)
Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers (2016) (33)
Uncovering exposures responsible for birth season – disease effects: a global study (2017) (32)
CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids (2015) (32)
Generalization of Variants Identified by Genome‐Wide Association Studies for Electrocardiographic Traits in African Americans (2013) (32)
Meta-analysis of genome-wide association studies of HDL cholesterol response to statins (2016) (31)
Automatic Capture of Student Notes to Augment Mentor Feedback and Student Performance on Patient Write-Ups (2008) (30)
Automated Classification of Consumer Health Information Needs in Patient Portal Messages (2015) (30)
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network (2019) (30)
A multi-stage genome-wide association study of uterine fibroids in African Americans (2017) (30)
Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing (2012) (30)
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes (2018) (29)
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants (2016) (29)
Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization (2015) (29)
CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease. (2016) (28)
Genome-wide study of resistant hypertension identified from electronic health records (2017) (28)
Probing the Virtual Proteome to Identify Novel Disease Biomarkers (2018) (28)
Prevention of overt hypoglycemia during exercise: stimulation of endogenous glucose production independent of hepatic catecholamine action and changes in pancreatic hormone concentration. (2002) (28)
Messaging to your doctors: understanding patient-provider communications via a portal system (2013) (28)
Granite: Diversified, Sparse Tensor Factorization for Electronic Health Record-Based Phenotyping (2017) (27)
Research and applications: Syntactic parsing of clinical text: guideline and corpus development with handling ill-formed sentences (2013) (27)
A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments (2018) (27)
Extracting and standardizing medication information in clinical text – the MedEx-UIMA system (2014) (27)
Qualitative study of system level factors related to genomic implementation (2018) (27)
An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records (2010) (27)
Precision medicine informatics (2016) (27)
An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies (2018) (26)
Processing of chromogranin A in the parathyroid: generation of parastatin-related peptides (2000) (26)
Clinical and Genetic Factors Associated With Cutaneous Squamous Cell Carcinoma in Kidney and Heart Transplant Recipients (2015) (26)
"Where do we teach what?" Finding broad concepts in the medical school curriculum. (2005) (26)
Tracking medical students' clinical experiences using natural language processing (2009) (25)
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 (2018) (25)
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis (2019) (25)
An Empirical Study for Impacts of Measurement Errors on EHR based Association Studies (2016) (25)
Defining Phenotypes from Clinical Data to Drive Genomic Research. (2018) (25)
Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies (2021) (25)
Frequency of genomic incidental findings among 21,915 eMERGE network participants (2020) (25)
Development of a System for Postmarketing Population Pharmacokinetic and Pharmacodynamic Studies Using Real‐World Data From Electronic Health Records (2020) (24)
Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records. (2013) (24)
Identification of unique venous thromboembolism-susceptibility variants in African-Americans (2017) (24)
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease (2019) (24)
An active learning-enabled annotation system for clinical named entity recognition (2017) (23)
Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity (2013) (23)
Focus on health information technology, electronic health records and their financial impact: PASTE: patient-centered SMS text tagging in a medication management system (2012) (23)
A stepwise approach to implementing pharmacogenetic testing in the primary care setting. (2019) (23)
Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics (2014) (23)
Phenome-wide association study identifies marked increased in burden of comorbidities in African Americans with systemic lupus erythematosus (2018) (22)
Enabling Open-Science Initiatives in Clinical Psychology and Psychiatry Without Sacrificing Patients’ Privacy: Current Practices and Future Challenges (2018) (22)
Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy (2015) (22)
A Natural Language Processing Algorithm to define a Venous Thromboembolism Phenotype (2013) (22)
Practical considerations for implementing genomic information resources (2016) (22)
Detecting time-evolving phenotypic topics via tensor factorization on electronic health records: Cardiovascular disease case study (2019) (22)
A conceptual model for translating omic data into clinical action (2015) (21)
Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation. (2018) (21)
Using topic modeling via non-negative matrix factorization to identify relationships between genetic variants and disease phenotypes: A case study of Lipoprotein(a) (LPA) (2018) (20)
Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational study using electronic health records (2018) (20)
Using systems approaches to address challenges for clinical implementation of pharmacogenomics (2014) (20)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
Clinical Acronym/Abbreviation Normalization using a Hybrid Approach (2013) (20)
The Effect of Reducing Maximum Shift Lengths to 16 Hours on Internal Medicine Interns’ Educational Opportunities (2013) (20)
Cost-aware active learning for named entity recognition in clinical text (2015) (19)
Enhancing the Power of Genetic Association Studies through the Use of Silver Standard Cases Derived from Electronic Medical Records (2013) (19)
The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain (2017) (19)
A polymorphism in HLA-G modifies statin benefit in asthma (2014) (19)
Deciphering Signaling Pathway Networks to Understand the Molecular Mechanisms of Metformin Action (2015) (19)
Mechanistic Phenotypes: An Aggregative Phenotyping Strategy to Identify Disease Mechanisms Using GWAS Data (2013) (19)
A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids (2019) (19)
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR (2019) (19)
A New Tool to Identify Key Biomedical Concepts in Text Documents, with Special Application to Curriculum Content (2002) (18)
Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record (2019) (18)
Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk (2020) (18)
Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single‐Patient Data Meta‐Analysis in More Than 15,000 Individuals (2019) (18)
Phenome-Wide Association Study (2016) (18)
A Modular Architecture for Electronic Health Record-Driven Phenotyping (2015) (18)
The Vanderbilt Experience with Electronic Health Records (2005) (17)
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. (2019) (17)
Analyzing Differences between Chinese and English Clinical Text: A Cross-Institution Comparison of Discharge Summaries in Two Languages (2016) (17)
Automatic scoring of medical students’ clinical notes to monitor learning in the workplace (2014) (17)
Correction: Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data (2013) (17)
Assessing the role of a medication-indication resource in the treatment relation extraction from clinical text (2015) (17)
Validation and Enhancement of a Computable Medication Indication Resource (MEDI) Using a Large Practice-based Dataset (2013) (17)
Phenome‐Wide Association Studies Uncover a Novel Association of Increased Atrial Fibrillation in Male Patients With Systemic Lupus Erythematosus (2018) (17)
Using Human ‘Experiments of Nature’ to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors (2018) (16)
Parsing clinical text: how good are the state-of-the-art parsers? (2014) (16)
Phenotyping through Semi-Supervised Tensor Factorization (PSST) (2018) (16)
A Crowdsourcing Framework for Medical Data Sets (2018) (16)
medExtractR: A targeted, customizable approach to medication extraction from electronic health records (2020) (16)
Discovery of Noncancer Drug Effects on Survival in Electronic Health Records of Patients With Cancer: A New Paradigm for Drug Repurposing (2019) (16)
Development of the Initial Surveys for the All of Us Research Program. (2019) (16)
Genome‐Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol (2019) (16)
A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies. (2020) (16)
Analysis of a Computerized Sign-out Tool: Identification of Unanticipated Uses and Contradictory Content (2007) (16)
Antibodies to SARS-CoV-2 in All of Us Research Program Participants, January 2-March 18, 2020. (2021) (16)
Calcium channel blockers as drug repurposing candidates for gestational diabetes: Mining large scale genomic and electronic health records data to repurpose medications (2018) (16)
PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records (2020) (16)
Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways. (2020) (15)
Modeling drug exposure data in electronic medical records: an application to warfarin. (2011) (15)
A Preliminary Study of Clinical Abbreviation Disambiguation in Real Time (2015) (15)
Identifying QT prolongation from ECG impressions using Natural Language Processing and Negation Detection (2007) (15)
A Prototype for Executable and Portable Electronic Clinical Quality Measures Using the KNIME Analytics Platform (2015) (15)
A prognostic model based on readily available clinical data enriched a pre-emptive pharmacogenetic testing program. (2016) (15)
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (15)
Genetic Interactions with Age, Sex, Body Mass Index, and Hypertension in Relation to Atrial Fibrillation: The AFGen Consortium (2017) (15)
Translational Health Disparities Research in a Data-Rich World (2019) (15)
Systemic inhibition of PTPN22 augments anticancer immunity. (2021) (15)
Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution (2016) (14)
Admixture Mapping and Subsequent Fine-Mapping Suggests a Biologically Relevant and Novel Association on Chromosome 11 for Type 2 Diabetes in African Americans (2014) (14)
An Automated Approach to Calculating the Daily Dose of Tacrolimus in Electronic Health Records (2010) (14)
A common variant on chromosome 4q25 is associated with prolonged PR interval in subjects with and without atrial fibrillation. (2014) (14)
Influence of Human Leukocyte Antigen (HLA) Alleles and Killer Cell Immunoglobulin‐Like Receptors (KIR) Types on Heparin‐Induced Thrombocytopenia (HIT) (2017) (14)
A multi-institution evaluation of clinical profile anonymization (2016) (14)
Research Directions in Genetic Predispositions to Stevens–Johnson Syndrome / Toxic Epidermal Necrolysis (2018) (14)
A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project (2014) (13)
Utilization of an EMR-Biorepository to Identify the Genetic Predictors of Calcineurin-Inhibitor Toxicity in Heart Transplant Recipients (2013) (13)
Using natural language processing to provide personalized learning opportunities from trainee clinical notes (2015) (13)
Analyses of longitudinal, hospital clinical laboratory data with application to blood glucose concentrations (2011) (13)
A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes (2021) (13)
Brief report: “Where do we teach what?” (2005) (13)
Identifying genetically driven clinical phenotypes using linear mixed models (2016) (13)
A prototype application for real-time recognition and disambiguation of clinical abbreviations (2013) (13)
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions (2016) (13)
Increased hospital mortality in patients with bedside hippus. (2008) (12)
Characteristics and treatment of African-American and European-American patients with resistant hypertension identified using the electronic health record in an academic health centre: a case−control study (2018) (12)
Automated Assessment of Medical Students' Clinical Exposures according to AAMC Geriatric Competencies (2014) (12)
Phenotyping using Structured Collective Matrix Factorization of Multi--source EHR Data (2016) (12)
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network (2018) (12)
Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects (2018) (12)
A common deletion in the haptoglobin gene associated with blood cholesterol levels among Chinese women (2017) (11)
Phenome-Wide Association Studies. (2022) (11)
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers (2018) (11)
Creation and Validation of an EMR-based Algorithm for Identifying Major Adverse Cardiac Events while on Statins (2014) (11)
Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort (2017) (11)
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. (2022) (11)
Intelligent use and clinical benefits of electronic health records in rheumatoid arthritis (2015) (11)
Development of a Natural Language Processing System to Identify Timing and Status of Colonoscopy Testing in Electronic Medical Records (2009) (11)
Evidence for extensive pleiotropy among pharmacogenes. (2016) (11)
Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records (2013) (10)
Trans-ancestry genome-wide association study identifies novel genetic mechanisms in rheumatoid arthritis (2021) (10)
Examining Rare and Low-Frequency Genetic Variants Previously Associated With Lone or Familial Forms of Atrial Fibrillation in an Electronic Medical Record System: A Cautionary Note (2014) (10)
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants (2020) (10)
Identifying Metastases-related Information from Pathology Reports of Lung Cancer Patients (2017) (10)
A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies (2019) (10)
Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies (2016) (10)
A Standards-based Semantic Metadata Repository to Support EHR-driven Phenotype Authoring and Execution (2016) (10)
Integrating gene expression and clinical data to identify drug repurposing candidates for hyperlipidemia and hypertension (2022) (10)
Learning to Identify Treatment Relations in Clinical Text (2014) (10)
Prevalence and Clinical Significance of Discrepancies within Three Computerized Pre-Admission Medication Lists. (2010) (10)
Anonymization of administrative billing codes with repeated diagnoses through censoring. (2010) (10)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
Phenotyping Adverse Drug Reactions: Statin-Related Myotoxicity (2015) (9)
Population‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans (2016) (9)
A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping (2019) (9)
Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes (2017) (9)
Developing Customizable Cancer Information Extraction Modules for Pathology Reports Using CLAMP (2019) (9)
Evaluation of the F2R IVS-14A/T PAR1 polymorphism with subsequent cardiovascular events and bleeding in patients who have undergone percutaneous coronary intervention (2016) (9)
Correction: Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations (2018) (8)
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS (2019) (8)
PrediXcan: Trait Mapping Using Human Transcriptome Regulation (2015) (8)
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis (2022) (8)
On the Potential of Preemptive Genotyping Towards Preventing Medication-Related Adverse Events: Results from the South Korean National Health Insurance Database (2016) (8)
Hypertension is a modifiable risk-factor for osteonecrosis in acute lymphoblastic leukemia. (2019) (8)
ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow (2015) (8)
A Decompositional Approach to Executing Quality Data Model Algorithms on the i2b2 Platform (2016) (8)
Strategies for Equitable Pharmacogenomic-Guided Warfarin Dosing Among European and African American Individuals in a Clinical Population (2017) (8)
A Phenome-Wide Association Study Uncovers a Role for Autoimmunity in the Development of Chronic Obstructive Pulmonary Disease. (2018) (8)
The IGNITE network: a model for genomic medicine implementation and research (2015) (7)
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders (2018) (7)
Understanding patient-provider communication entered via a patient portal system (2012) (7)
Applying semantic-based probabilistic context-free grammar to medical language processing - A preliminary study on parsing medication sentences (2011) (7)
Medical Records-Based Genetic Studies of the Complement System (2021) (7)
Extracting Semantic Lexicons from Discharge Summaries using Machine Learning and the C-Value Method (2012) (7)
Antibodies to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in All of Us Research Program Participants, 2 January to 18 March 2020 (2021) (7)
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study (2021) (7)
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology (2020) (7)
Letter by Mosley Regarding Article, "Iron Homeostasis and Pulmonary Hypertension: Iron Deficiency Leads to Pulmonary Vascular Remodeling in the Rat". (2015) (7)
Discovering patterns of pleiotropy in genome-wide association studies (2018) (7)
medExtractR: A medication extraction algorithm for electronic health records using the R programming language (2019) (6)
DDIWAS: High-throughput electronic health record-based screening of drug-drug interactions (2021) (6)
PRECISION MEDICINE: DATA AND DISCOVERY FOR IMPROVED HEALTH AND THERAPY. (2017) (6)
Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting. (2014) (6)
Mining Biomedical Literature for Terms related to Epidemiologic Exposures. (2010) (6)
Real-time clinical note monitoring to detect conditions for rapid follow-up: A case study of clinical trial enrollment in drug-induced torsades de pointes and Stevens-Johnson syndrome (2020) (6)
LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks (2020) (6)
Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data (2016) (6)
Clinical Features Associated With Nascent Left Ventricular Diastolic Dysfunction in a Population Aged 40 to 55 Years. (2018) (6)
Genome-and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk Running title : Ritchie et al . ; QRS GWAS and PheWAS in electronic records (2013) (5)
Development of an ensemble resource linking MEDications to their Indications (MEDI). (2013) (5)
Genetic determinants of variability in warfarin response after the dose-titration phase (2016) (5)
A Phenome-Wide Association Study Identifies a Novel Asthma Risk Locus Near TERC. (2015) (5)
Evaluation of a Novel System to Enhance Clinicians' Recognition of Preadmission Adverse Drug Reactions (2018) (5)
Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting (2016) (5)
Understanding patient‐provider communication entered via a patient portal system (2012) (5)
Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use (2020) (5)
Integrating EMR-Linked and In Vivo Functional Genetic Data to Identify New Genotype-Phenotype Associations (2014) (5)
SecureMA: protecting participant privacy in genetic association (2014) (5)
Association of ST2 polymorphisms with atopy, asthma, and leukemia (2018) (5)
PregOMICS—Leveraging systems biology and bioinformatics for drug repurposing in maternal‐child health (2018) (5)
CYP2C19 Loss-of-Function is Associated with Increased Risk of Ischemic Stroke after Transient Ischemic Attack in Intracranial Atherosclerotic Disease. (2020) (5)
Characterizing Design Patterns of EHR-Driven Phenotype Extraction Algorithms (2018) (4)
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. (2022) (4)
High-throughput framework for genetic analyses of adverse drug reactions using electronic health records (2021) (4)
PRECISION MEDICINE: FROM DIPLOTYPES TO DISPARITIES TOWARDS IMPROVED HEALTH AND THERAPIES. (2018) (4)
Extracting epidemiologic exposure and outcome terms from literature using machine learning approaches (2012) (4)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
Meeting the challenge: Health information technology's essential role in achieving precision medicine (2021) (3)
Disease Heritability Studies Harness the Healthcare System to Achieve Massive Scale (2018) (3)
APOL1 renal risk variants are associated with obesity and body composition in African ancestry adults (2021) (3)
Portal venous hyperinsulinemia does not stimulate gut glucose absorption in the conscious dog. (2004) (3)
A comparative study of different methods for automatic identification of clopidogrel-induced bleedings in electronic health records (2017) (3)
Multi-ethnic genome-wide association study for atrial fibrillation (2018) (3)
An atlas of genetic variation for linking pathogen-induced cellular traits to human disease (2017) (3)
Temporal changes in genetic admixture are linked to heterozygosity and health diagnoses in humans (2019) (3)
Abstract 1200: QT-Prolonging Medication Prescription Tendencies In A Cohort Of Hospitalized Patients With Known Long QT Intervals (2008) (3)
Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling (2018) (3)
Harmonization of Quality Data Model with HL7 FHIR to Support EHR-driven Phenotype Authoring and Execution: A Pilot Study (2015) (3)
A post-processing algorithm for building longitudinal medication dose data from extracted medication information using natural language processing from electronic health records (2019) (3)
Formative Evaluation to Guide Early Deployment of an Online Content Management Tool for Medical Curriculum (2003) (3)
Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease (2021) (3)
WikiMedMap: Expanding the Phenotyping Mapping Toolbox Using Wikipedia (2019) (3)
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (2)
Replication of SCN5A Associations with Electrocardiographic Traits in African Americans from Clinical and Epidemiologic Studies (2014) (2)
Effects of G6pc2 deletion on body weight and cholesterol in mice. (2017) (2)
Mining phenotypic keywords from a large collection of clinical narratives (2014) (2)
A Preliminary Study of Coupling Transfer Learning with Active Learning for Clinical Named Entity Recognition between Two Institutions (2014) (2)
Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application (2017) (2)
Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System. (2019) (2)
The U.S. National Library of Medicine's Impact on Precision and Genomic Medicine. (2022) (2)
Finding a Needle in a QT Interval Big Data Haystack: The Role for Orthogonal Datasets. (2016) (2)
Glutamate Receptor Polymorphisms Contribute to Glucocorticoid-Associated Osteonecrosis (2014) (2)
Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation (2017) (2)
Genetic variants related to antihypertensive targets inform drug efficacy and side effects (2018) (2)
Characterizing variability of electronic health record-driven phenotype definitions (2022) (2)
The Phenotype Execution and Modeling Architecture ( PhEMA ) – A Standards-Based Composition of Software for Phenotype Algorithm Development (2016) (2)
Case 40-2018: A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis. (2019) (2)
Pulling the covers in electronic health records for an association study with self-reported sleep behaviors (2018) (2)
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics (2021) (2)
CP Tensor Decomposition with Cannot-Link Intermode Constraints (2019) (2)
Comparing content coverage in medical curriculum to trainee-authored clinical notes. (2010) (2)
Genetically predicted sex hormone levels and health outcomes: phenome-wide Mendelian randomization investigation (2022) (2)
Linking Genomic and Clinical Data for Discovery and Personalized Care (2014) (2)
Modulators of normal ECG intervals identified in a large electronic medical record (2011) (2)
Abstract 19509: Identifying Genotype-Phenotype Relations in Electronic Medical Record Systems: Application to Warfarin Pharmacogenomics. (2010) (2)
A Phenome-wide Mendelian Randomisation study on genetically determined serum urate levels in UK Biobank cohort (2019) (1)
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization (2019) (1)
Electronic health record data suggests metformin improves cancer survival: A new model for drug repurposing studies (2012) (1)
Detecting Adverse Drug Reactions Using Inpatient Medication Orders and Laboratory Tests Data (2012) (1)
Abstract 1293: ABO blood type and cancer risk: preliminary findings from a phenome analysis (2017) (1)
Evaluation of Existing Phenotype Authoring Tools for Clinical Research (2014) (1)
Analytic Approaches to Phenotypic Complexity (2013) (1)
I can drive in Iceland: Enabling international joint analyses (2021) (1)
Arrhythmia Risk Genome-and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of (2013) (1)
Extracting Drug Exposure Epochs and Drug Response Outcomes from Electronic Health Records (2019) (1)
Large-Scale Text Mining of Social Determinants from Electronic Health Records: Case Studies of Homelessness and Adverse Childhood Experiences (2017) (1)
Cox regression is robust to inaccurate EHR-extracted event time: an application to EHR-based GWAS (2022) (1)
A General Purpose Phenotype Algorithm for Venous Thromboembolism Using Billing Codes and Natural Language Processing (2012) (1)
Genome-wide association study of acne inversa in a multi-ethnic cohort (2019) (1)
Abstract 19748: CD39-associated SNP and Secondary Cardiovascular Events (2014) (1)
Analysis of Medical Student Content Searches that Resulted in Unidentified UMLS Concepts (2006) (1)
Using systems approaches to address challenges for clinical implementation of pharmacogenomics (2015) (1)
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals (2018) (1)
A randomized study of feedback on student write-ups using an electronic portfolio. (2007) (1)
Using Electronic Health Records to Identify Patient Cohorts for Drug-Induced Thrombocytopenia, Neutropenia and Liver Injury (2012) (1)
Diabetes and Susceptibility to Infection: A Study of Lab Culture Results in the EMR (2012) (1)
Abstract 2684: Modulators of Normal ECG Intervals Identified in a large Electronic Medical Record (2009) (1)
Uric Acid Levels in Relation to Progression of Multiple Sclerosis (2016) (1)
Abstract P147: Differences in the Treatment of Resistant Hypertension in African Americans and European Americans in a Clinical Setting (2017) (1)
Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity (2018) (1)
Abstract 15509: Genomwide-Association Identifies a Novel Locus for Anthracycline Cardiotoxicity (2013) (1)
Abstract 15433: Lpa Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins Abstract (2017) (1)
Correction: Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity (2013) (1)
Using SemRep and a medication indication resource to extract treatment relations from clinical notes (2014) (1)
Using Concept Markers to Find Genetics Content in a Medical School Curriculum (2002) (1)
The Impact of COVID-19 on the All of Us Research Program. (2022) (1)
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders (2022) (1)
PheKB.org: An Online Collaboration Tool for Phenotype Algorithm Research (2012) (1)
Are Associated with Erythrocyte Sedimentation Rate (2011) (1)
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution (2019) (1)
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (1)
CYP2C19 Loss-of-Function Associated with First-Time Ischemic Stroke in Non-surgical Asymptomatic Carotid Artery Stenosis During Clopidogrel Therapy (2021) (1)
Abstract 11449: Influence of Exonic Variation on Heparin-Induced Thrombocytopenia (2014) (0)
An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies (2018) (0)
Quantifying Tobacco Exposure Using Clinical Notes and Natural Language Processing to Enable Lung Cancer Screening (2015) (0)
Crowdsourcing Clinical Chart Reviews (2018) (0)
Abstract 14663: High Rate of Arrhythmia Diagnoses Following Return of Pathogenic/likely Pathogenic Variants in an Unselected Population (2020) (0)
Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans (2017) (0)
Mapping Using Human Transcriptome Regulation (2015) (0)
Precision Medicine and Informatics (2021) (0)
Abstract 4408: Using a Large Electronic Medical Record to Validate 4q25 Variants Conferring Risk for Atrial Fibrillation (2008) (0)
Abstract B17: Type 2 diabetes, metformin, and ovarian cancer survival: An analysis of tumor registry and electronic medical record data. (2016) (0)
Automated Identification of Drug and Food Allergies Entered in EHRs Using Non-Standard Terminology (2013) (0)
Combining Publicly-Available and Electronic Health Record Data to Reposition Drugs (2019) (0)
Can Users Estimate Their Usage of a Web-Based Application? Validating a Self-Report Usage Questionnaire (2005) (0)
Evaluating Physician Response to Pharmacogenomic-Guided Warfarin Dosing in an Hospitalized Population (2016) (0)
Building Successful Natural Language Processing Applications in Clinical Research and Healthcare Operations (2016) (0)
Sharing of Genomic Information: Perspectives from Stakeholders (2013) (0)
Title : A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and EHR environments Corresponding (2018) (0)
Comparing the Phenomic Profile of All of Us Research Program and National COVID Cohort Collaborative (2021) (0)
Informatics-izing the National Institutes of Health (2021) (0)
A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes (2021) (0)
The U.S. National Library of Medicine’s impact on precision and genomic medicine (2022) (0)
Developing a Phenotype Risk Score for Opioid Adverse Events (2020) (0)
Discovery of Pharmacogenomic Relationships Using Electronic Medical Records (2015) (0)
Establishing Drug Treatment discovery rate of MedEx (2012) (0)
Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis (2018) (0)
Translating Electronic Clinical Quality Measures to Executable, Portable, and Customizable Workflows in KNIME (2015) (0)
Clinical and Genetic Predictors of Cutaneous Squamous Cell Carcinoma in Kidney and Heart Transplant Recipients.: Abstract# A516 (2014) (0)
The All of Us Research Program Researcher Portal: Innovative access to Unprecendented Data (2017) (0)
Scalable Data-driven Phenotypes via Unsupervised Feature Learning. (2013) (0)
Abstract 13007: Common and Rare Variants in SCN10A Associated with Atrial Fibrillation (2011) (0)
A Simple and Efficient Method for the Management of Multiple Electronic Health Record-Driven Phenotype Projects (2017) (0)
Qualitative study of system-level factors related to genomic implementation (2018) (0)
BASIC AND TRANSLATIONAL—BILIARY Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies (2016) (0)
Cloud gazing: demonstrating paths for unlocking the value of cloud genomics through cross-cohort analysis (2022) (0)
Biovupsych : Electronic Medical Record-Based Identification of Dna Samples for Disorders Under-Represented n The'Pgc (2017) (0)
Deep Learning Using Electronic Health Records and Genetic Data to Predict Cardiovascular Diseases (2019) (0)
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach (2022) (0)
Usability of a phenotype builder prototype and lessons learned for the design of phenotyping tools (2015) (0)
Abstract 20688: A Phenome-Wide Association Study to Assess Pleiotropic Effects of LPA (2017) (0)
Using a gene-environment interaction study to evaluate risk for lung cancer. (2016) (0)
BVES REGULATES CELL CYCLE PROGRESSION THROUGH YAP 1 IN CRC (2014) (0)
570 A genome-wide association study in an African American cohort implicates IL-12A in acne (2021) (0)
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications (2023) (0)
Natural Language Processing for Phenotype Extraction: Challenges in Extraction and Representation (2015) (0)
Abstract 13476: Association of HLA-DRB3*01:01 With Heparin-Induced Thrombocytopenia (2015) (0)
Building the Computational Workforce for Precision Medicine (2015) (0)
A multi-stage genome-wide association study of uterine fibroids in African Americans (2017) (0)
Huge Cohorts, Genomics, and Clinical Data to Personalize Medicine (2018) (0)
Understanding Patient-Provider Communication via a Patient Portal (2012) (0)
Multi-ancestry Genome- and Phenome-wide Association Studies of Diverticular Disease in Electronic Health Records with Natural Language Processing enriched phenotype algorithm (2020) (0)
PheWAS Network Analysis and Visualization (2015) (0)
A comparison of three methods for automatic text categorization for geriatrics. (2007) (0)
The Prognostic Value of Monocyte Count in Idiopathic Pulmonary Fibrosis: A Multi-Omic Cohort Study (2019) (0)
CE-38 Phenome-wide association studies identify a new association of atrial fibrillation in males with systemic lupus erythematosus (2016) (0)
SCANNING THE PHENOME TO UNCOVER PLEIOTROPIC EFFECTS OF PCSK9 (2017) (0)
854 GWAS of acne vulgaris among African Americans (2019) (0)
Increased Hospital Mortality in Patients with (2008) (0)
Abstract IA25: Early progress on the All of Us Research Program (2020) (0)
Mining electronic health record data to detect drug-repurposing signals for cancers (2014) (0)
Abstract P100: Identification of Patients with Familial Hypercholesterolemia (FH) Using the Dutch Lipid Network (DLN) Criteria in Electronic Health Records (EHR) (2016) (0)
The Phenotype-Genotype Reference Map: Improving biobank data science through replication (2022) (0)
Using PheWAS and Natural Language Processing to Discover Clinical Associations for Congenital Chest Deformities (2013) (0)
Using electronic medical records to advance genomic medicine – novel approaches for finding actionable pharmacogenomics (2019) (0)
Erratum: Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record (American Journal of Human Genetics (2010) 86 (560-572)) (2010) (0)
An NLP Extension to the Quality Data Model for EHR-Driven Phenotype Algorithm Authoring and Execution (2016) (0)
Genetic Interactions with Age, Sex, Body Mass Index, and Hypertension in Relation to Atrial Fibrillation: The AFGen Consortium (2017) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
Anonymization of Longitudinal Electronic Medical Records for Clinical (2011) (0)
Systematic replication of smoking disease associations in the All of Us Research Program (2021) (0)
Anonymization of Longitudinal Electronic Medical Records for Clinical (2011) (0)
EHR Extraction of Longitudinal Exposure to Proton Pump Inhibitors (2018) (0)
The Data and Research Center of the All of Us Research Program: Framework for a National Cohort Program and Research Opportunities (2017) (0)
Abstract 12067: A Genome Wide Association Study (GWAS) of the Early Repolarization Phenotype in BioVU Implicates Variants at 12q22 (2012) (0)
Real Time Active Learning Study for Clinical Named Entity Recognition (2015) (0)
Correspondence: Response to 'Use of an algorithm for identifying hidden drug-drug interactions in adverse event reports' by Gooden et al (2013) (0)
Unlocking information in electronic health records using natural language processing: A case study in medication information extraction (2014) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
Abstract 17956: External Validation of a Prediction Model for the Development of Atrial Fibrillation in a Repository of Electronic Medical Records (2014) (0)
Leveraging Value Sets from the Value Set Authority Center (VSAC) in a Standards-Based Clinical Data Repository (2017) (0)
A Genome- and Phenome- Wide Study of Diverticulosis (2015) (0)
Predicting Clinical Laboratory Turnaround Time (2015) (0)
Abstract 17184: Achievement Of LDL-cholesterol Reduction Targets is Associated With Reduced Cardiovascular Disease Risk Among Patients With Familial Hypercholesterolemia in a Large Electronic Medical Record Database (2015) (0)
Establishing the Need for Personalized Medicine: Simvastatin Exposure Among a SLCO1B1 Variant Population (2013) (0)
Classifying ICD-9 codes into meaningful disease categories: A comparison between two coding systems (2013) (0)
Phenotype Risk Score but not Genetic Risk Score aids in identifying individuals with Systemic Lupus Erythematosus in the Electronic Health Record. (2023) (0)
Genome-Wide Association Study (GWAS) Of Venous Thromboembolism (VTE) In African-Americans From The Electronic Medical Records & Genomics (eMERGE) Networkm (2013) (0)
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies (2018) (0)
Abstract 270: Successful Development and Implementation of an Algorithm to Identify Resistant Hypertension in the Electronic Medical Record (2014) (0)
Translational Bioinformatics 101 (2016) (0)
Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network (2017) (0)
Distribution of ancestry in each cohort. (2020) (0)
response to exercise Role of carotid bodies in control of the neuroendocrine (2016) (0)
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics (2021) (0)
Author Correction: Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits (2023) (0)
Association of BMI and Obesity Genetic Risk Score with Surgical Procedures Through a Procedure-wide Association Study (2017) (0)
PhEMA: Phenotype Modeling, Sharing and Execution Architecture (2015) (0)
Development and Testing of Participant Provided Information Modules for the Precision Medicine Initiative (2017) (0)
Association of Obesity with Postoperative Complications Using Phenome-Wide Association Studies and Mendelian Randomization (2018) (0)
Extracting research-quality phenotypes from electronic health records to support precision medicine (2015) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
Identifying Metastases from Pathology Reports in Lung Cancer Patients (2014) (0)
Precision Medicine in the Era of Huge Cohorts and Dense Phenotypic Data. (2020) (0)
Defining and prioritizing unmet research needs for a rare but deadly disease (0)
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (0)
(Authoring) Rules, (Distributed Query) Tools, and Drools: The challenging new world of high throughput phenotyping (2015) (0)
Identifying potential drugs that induce QT prolongation using electronic medical records (2010) (0)
Quality Analysis of the All of Us Research Program Health Surveys (2019) (0)
Simmering Below the Surface: Sweet's Syndrome with Multiple Myeloma. (2018) (0)
MedEx-UIMA - An Open-Source System for Medication Information Extraction from Clinical Text (2012) (0)
HealthPro: An integrated web application for essential health data and biological specimen collection in the Precision Medicine Initiative (2017) (0)
Open Source R Implementation of the PheWAS Methodology (2013) (0)
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach (2022) (0)
Automated capture and assessment of medical student clinical experience. (2008) (0)
Learning from Longitudinal Data in Electronic Health Record and Genetic Data to Improve Cardiovascular Event Prediction (2019) (0)
Reply (2017) (0)
PheWAS and Genetics Define Subphenotypes in Drug Response (2014) (0)
Phenometric analysis of electronic health records: a new approach to visualization of high dimensional biomedical information (2013) (0)
Applying Active Learning to Word Sense Disambiguation in a Real-Time Setting (2014) (0)
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology (2020) (0)
Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling (2018) (0)
A rare variant on a common risk haplotype of HFE causes increased risk of hereditary hemochromatosis (2019) (0)
Phenome-Wide Association Studies Using NLP-Derived Concepts (2014) (0)
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (0)
Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record (2019) (0)
347 A RANDOMIZED STUDY OF STUDENT FEEDBACK ON HISTORY AND PHYSICAL USING AN ELECTRONIC LEARNING PORTFOLIO. (2006) (0)
Using Topic Modeling to Identify Relationship between LPA Variant and Disease Phenotypes (2018) (0)
Association of MARC1 A165T with metabolic traits. (2020) (0)
TITLE: Mendelian randomization of circulating polyunsaturated fatty acids and colorectal cancer risk (2020) (0)
Building a Large Clinical Abbreviation Sense Inventory from Discharge Summaries (2013) (0)
Comparing Diagnoses Recorded in Problem Lists vs. Administrative Codes (2012) (0)
Potential Of Integrating Human Genetics and Electronic Medical Records For Drug Discovery : The Example Of TYK2 and Rheumatoid Arthritis (2013) (0)
Sub-Phenotyping of Crohn's Disease Using a Large Electronic Record Cohort (2017) (0)
A Study of Active Learning Methods for Clinical Entities Recognition (2013) (0)
Abstract 13242: Complement Receptor 1 Gene Variants are Associated With Erythrocyte Sedimentation Rate (2011) (0)
AA-01 Phenome-wide association studies uncover hierarchy of autoantibodies in systemic lupus erythematosus (2018) (0)
Comparing Effect Sizes in Covid Positive Phenomic Profiles (2022) (0)
CYP2C19 Loss-of-Function Associated with First-Time Ischemic Stroke in Non-surgical Asymptomatic Carotid Artery Stenosis During Clopidogrel Therapy (2021) (0)
Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply. (2022) (0)
Abstract C19: Assessing metformin use and ovarian cancer survival from electronic medical records (2016) (0)
Using Genomic Association Replication Rates as an EHR Quality Measure via the Phenotype-Genotype Reference Map (PGRM) (2021) (0)
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects (2013) (0)
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers (2018) (0)
Identifying a Rare Mortal Risk Factor Using Full Text Search of an EMR (2007) (0)
Reply to Ward and Colleagues’ Comment on “Using Human Experiments of Nature to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors” (2018) (0)
Biological Insights From Genetics Of Rheumatoid Arthritis Contribute To Drug Discovery (2013) (0)
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid (2022) (0)
The Many Meanings of Precision Medicine (2016) (0)
Use of Clinical Decision Support to Tailor Drug Therapy Based on Genomics (2016) (0)
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR (2019) (0)
Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans (2017) (0)
Applying Active Learning to Clinical Abbreviation Disambiguation in Real Time (2016) (0)
A High-Throughput Genetic Analysis of Common Drug Allergy Labels Using Data from a Large Biobank (2018) (0)
Qualitative evaluation of three phenotype information models to find methotrexate liver injury (2014) (0)
The Phenotype Execution and Modeling Architecture: A Roadmap Towards Next-generation Phenotyping Using EHRs (2017) (0)
Quantifying the phenome‐wide disease burden of obesity using electronic health records and genomics (2022) (0)
Evaluation of Diagnosis Codes, Clinical Notes, and Medications on Identifying Subjects with a Specific Disease Phenotype (2014) (0)
Rapid Identification and Phenotyping of Nonalcoholic Fatty Liver Disease Patients Using an Automated Algorithmic Approach in Diverse, Urban Healthcare Systems (2021) (0)
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants (2016) (0)
MZ carrier state in alpha-1 antitrypsin deficiency: Summary of the 16th Gordon L. Snider critical issues workshop, Bethesda, Maryland, November 13, 2017 (2018) (0)
A Phenome-Wide Association Study (PheWAS) of Iron Deficiency in a Large Electronic Health Record Database (2017) (0)

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