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Lista de obras de Josh C Denny

"Understanding" medical school curriculum content using KnowledgeMap

artículo científico publicado en 2003

"Where do we teach what?" Finding broad concepts in the medical school curriculum.

artículo científico publicado en 2005

A Crowdsourcing Framework for Medical Data Sets.

artículo científico publicado en 2018

A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping

scientific article published on 01 July 2019

A Decompositional Approach to Executing Quality Data Model Algorithms on the i2b2 Platform

artículo científico publicado en 2016

A Modular Architecture for Electronic Health Record-Driven Phenotyping

artículo científico publicado en 2015

A New Tool to Identify Key Biomedical Concepts in Text Documents, with Special Application to Curriculum Content

A Phenome-Wide Association Study Identifies a Novel Asthma Risk Locus Near TERC.

artículo científico publicado en 2016

A Phenome-Wide Association Study Uncovers a Role for Autoimmunity in the Development of Chronic Obstructive Pulmonary Disease.

artículo científico publicado en 2018

A Phenome-wide Mendelian Randomisation study on genetically determined serum urate levels in UK Biobank cohort

artículo científico publicado en 2019

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies

artículo científico publicado en 2020

A Preliminary Study of Clinical Abbreviation Disambiguation in Real Time.

artículo científico publicado en 2015

A Prototype for Executable and Portable Electronic Clinical Quality Measures Using the KNIME Analytics Platform.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

A Standards-based Semantic Metadata Repository to Support EHR-driven Phenotype Authoring and Execution

artículo científico publicado en 2015

A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project

artículo científico publicado en 2014

A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

artículo científico publicado en 2019

A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments

scientific article published on 01 November 2018

A common deletion in the haptoglobin gene associated with blood cholesterol levels among Chinese women

artículo científico publicado en 2017

A common variant on chromosome 4q25 is associated with prolonged PR interval in subjects with and without atrial fibrillation.

artículo científico publicado en 2013

A comparative study of current Clinical Natural Language Processing systems on handling abbreviations in discharge summaries

artículo científico publicado en 2012

A comparison of rule-based and machine learning approaches for classifying patient portal messages.

artículo científico publicado en 2017

A conceptual model for translating omic data into clinical action

artículo científico publicado en 2015

A gene-based association method for mapping traits using reference transcriptome data

artículo científico publicado en 2015

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

artículo científico publicado en 2013

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

artículo científico publicado en 2015

A genome-wide association study of heparin-induced thrombocytopenia using an electronic medical record

artículo científico publicado en 2014

A hybrid system for temporal information extraction from clinical text

artículo científico publicado en 2013

A long journey to short abbreviations: developing an open-source framework for clinical abbreviation recognition and disambiguation (CARD).

artículo científico

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

scientific article published on 13 April 2020

A multi-institution evaluation of clinical profile anonymization

artículo científico publicado en 2015

A multi-stage genome-wide association study of uterine fibroids in African Americans

artículo científico publicado en 2017

A natural language processing algorithm to define a venous thromboembolism phenotype

artículo científico publicado en 2013

A phenome-wide association study to discover pleiotropic effects of , , and

A polymorphism in HLA-G modifies statin benefit in asthma

artículo científico publicado en 2014

A prognostic model based on readily available clinical data enriched a pre-emptive pharmacogenetic testing program.

artículo científico publicado en 2015

A prototype application for real-time recognition and disambiguation of clinical abbreviations

A stepwise approach to implementing pharmacogenetic testing in the primary care setting

scientific article published on 01 October 2019

A study of active learning methods for named entity recognition in clinical text

artículo científico publicado en 2015

A study of machine-learning-based approaches to extract clinical entities and their assertions from discharge summaries.

artículo científico publicado en 2011

A study of transportability of an existing smoking status detection module across institutions.

artículo científico publicado en 2012

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

artículo científico publicado en 2018

Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics

artículo científico publicado en 2017

Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans

artículo científico publicado en 2014

An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease

artículo científico publicado en 2018

An Empirical Study for Impacts of Measurement Errors on EHR based Association Studies

artículo científico publicado en 2016

An active learning-enabled annotation system for clinical named entity recognition.

artículo científico publicado en 2017

An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records.

artículo científico publicado en 2010

An automated approach to calculating the daily dose of tacrolimus in electronic health records.

artículo científico publicado en 2010

An evaluation of the NQF Quality Data Model for representing Electronic Health Record driven phenotyping algorithms

artículo científico publicado en 2012

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

artículo científico publicado en 2018

Analyses of longitudinal, hospital clinical laboratory data with application to blood glucose concentrations.

artículo científico publicado en 2011

Analysis of a computerized sign-out tool: identification of unanticipated uses and contradictory content.

artículo científico publicado en 2007

Analysis of medical student content searches that resulted in unidentified UMLS concepts.

artículo científico publicado en 2006

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

artículo científico publicado en 2018

Analyzing differences between chinese and english clinical text: a cross-institution comparison of discharge summaries in two languages

artículo científico publicado en 2013

Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms.

artículo científico publicado en 2011

Anonymization of administrative billing codes with repeated diagnoses through censoring

artículo científico publicado en 2010

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans

artículo científico publicado en 2017

Applying active learning to high-throughput phenotyping algorithms for electronic health records data

artículo científico publicado en 2013

Applying semantic-based probabilistic context-free grammar to medical language processing--a preliminary study on parsing medication sentences

artículo científico publicado en 2011

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records

artículo científico publicado en 2010

Assessing the role of a medication-indication resource in the treatment relation extraction from clinical text

artículo científico

Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records

artículo científico publicado en 2013

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

artículo científico publicado en 2016

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

artículo científico publicado en 2020

Association of ST2 polymorphisms with atopy, asthma, and leukemia

artículo científico publicado en 2018

Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis

scientific article published on 01 February 2019

Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study

artículo científico publicado en 2020

Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls

artículo científico publicado en 2013

Attitudes of clinicians following large-scale pharmacogenomics implementation

artículo científico publicado en 2015

Automated Assessment of Medical Students' Clinical Exposures according to AAMC Geriatric Competencies

artículo científico publicado en 2014

Automated Classification of Consumer Health Information Needs in Patient Portal Messages

artículo científico publicado en 2015

Automated capture and assessment of medical student clinical experience.

artículo científico publicado en 2008

Automated extraction of clinical traits of multiple sclerosis in electronic medical records

artículo científico publicado en 2013

Automated grouping of medical codes via multiview banded spectral clustering

scientific article published on 28 October 2019

Automated identification of drug and food allergies entered using non-standard terminology.

scientific article published on 07 June 2013

Automatic capture of student notes to augment mentor feedback and student performance on patient write-ups.

artículo científico publicado en 2008

Automatic identification of methotrexate-induced liver toxicity in patients with rheumatoid arthritis from the electronic medical record.

artículo científico publicado en 2014

Automatic scoring of medical students' clinical notes to monitor learning in the workplace.

artículo científico publicado en 2013

Benefit of pre-emptive pharmacogenetic information on clinical outcome

artículo científico publicado en 2018

Biobanks and electronic medical records: enabling cost-effective research

artículo científico publicado en 2014

Building bridges across electronic health record systems through inferred phenotypic topics

artículo científico publicado en 2015

CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids

artículo científico publicado en 2015

CP Tensor Decomposition with Cannot-Link Intermode Constraints

scientific article published on 01 May 2019

CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies

artículo científico publicado en 2015

CYP2C19 Loss-of-Function is Associated with Increased Risk of Ischemic Stroke after Transient Ischemic Attack in Intracranial Atherosclerotic Disease

artículo científico publicado en 2020

CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease

artículo científico publicado en 2015

Calcium Channel Blockers as Drug Repurposing Candidates for Gestational Diabetes: Mining large scale genomic and electronic health records data to repurpose medications

artículo científico publicado en 2018

Can users estimate their usage of a web-based application? Validating a self-report usage questionnaire.

artículo científico publicado en 2005

Case 40-2018: A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis

artículo científico publicado en 2019

Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network

artículo científico publicado en 2017

Chapter 13: Mining Electronic Health Records in the Genomics Era ⬇️

artículo científico publicado el 27 de diciembre de 2012

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.

artículo científico publicado en 2018

Characterization of statin dose response in electronic medical records

scientific article published on 04 October 2013

Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods

artículo científico publicado en 2016

Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing

artículo científico publicado en 2013

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

artículo científico publicado en 2016

Combining billing codes, clinical notes, and medications from electronic health records provides superior phenotyping performance

artículo científico publicado en 2015

Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis

artículo científico publicado en 2018

Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System.

artículo científico publicado en 2019

Comparative analysis of pharmacovigilance methods in the detection of adverse drug reactions using electronic medical records.

artículo científico publicado en 2012

Comparing content coverage in medical curriculum to trainee-authored clinical notes

artículo científico publicado en 2010

Comparison of HLA allelic imputation programs.

artículo científico publicado en 2017

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate

artículo científico publicado en 2011

Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data

artículo científico publicado en 2013

Correction: Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity

artículo científico publicado en 2013

Correction: Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.

artículo científico publicado en 2018

Cost-aware active learning for named entity recognition in clinical text

artículo científico publicado en 2019

Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record

scientific article published on 04 November 2019

Creation and Validation of an EMR-based Algorithm for Identifying Major Adverse Cardiac Events while on Statins

artículo científico publicado en 2014

Data from clinical notes: a perspective on the tension between structure and flexible documentation

artículo científico publicado en 2011

Deciphering Signaling Pathway Networks to Understand the Molecular Mechanisms of Metformin Action

artículo científico publicado en 2015

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data

artículo científico publicado en 2016

Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort

artículo científico publicado en 2017

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Desiderata for computable representations of electronic health records-driven phenotype algorithms

artículo científico publicado en 2015

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

artículo científico publicado en 2014

Design patterns for the development of electronic health record-driven phenotype extraction algorithms

artículo científico publicado en 2014

Detecting Adverse Drug Reactions Using Inpatient Medication Orders and Laboratory Tests Data

Detecting abbreviations in discharge summaries using machine learning methods.

artículo científico publicado en 2011

Detecting drug interactions from adverse-event reports: interaction between paroxetine and pravastatin increases blood glucose levels.

artículo científico publicado en 2011

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

Detecting temporal expressions in medical narratives

artículo científico

Detecting time-evolving phenotypic topics via tensor factorization on electronic health records: Cardiovascular disease case study

scientific article published on 22 August 2019

Developing Electronic Health Record Algorithms That Accurately Identify Patients With Systemic Lupus Erythematosus

artículo científico publicado en 2017

Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution

artículo científico publicado en 2016

Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers

scientific article published on 20 July 2016

Development and evaluation of a clinical note section header terminology

artículo científico publicado en 2008

Development and evaluation of an ensemble resource linking medications to their indications

artículo científico publicado en 2013

Development of a System for Postmarketing Population Pharmacokinetic and Pharmacodynamic Studies Using Real-World Data From Electronic Health Records

scientific article published on 11 February 2020

Development of a natural language processing system to identify timing and status of colonoscopy testing in electronic medical records

artículo científico publicado en 2009

Development of an ensemble resource linking MEDications to their Indications (MEDI).

artículo científico

Development of inpatient risk stratification models of acute kidney injury for use in electronic health records.

artículo científico publicado en 2010

Development of the Initial Surveys for the All of Us Research Program

artículo científico publicado en 2019

Discovery of Noncancer Drug Effects on Survival in Electronic Health Records of Patients With Cancer: A New Paradigm for Drug Repurposing

scientific article published on 01 May 2019

Diversity and inclusion for the All of Us research program: A scoping review

artículo científico publicado en 2020

Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals

artículo científico publicado en 2019

Effects of G6pc2 deletion on body weight and cholesterol in mice

artículo científico publicado en 2017

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

artículo científico publicado en 2018

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder

artículo científico publicado en 2016

Electronic Medical Records as a Tool in Clinical Pharmacology: Opportunities and Challenges ⬇️

artículo científico publicado el 1 de junio de 2012

Electronic health record design and implementation for pharmacogenomics: a local perspective

scientific article published on 05 September 2013

Electronic health records-driven phenotyping: challenges, recent advances, and perspectives

artículo científico publicado en 2013

Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.

artículo científico publicado en 2014

Electronic medical records for genetic research: results of the eMERGE consortium

artículo científico publicado en 2011

Enabling genomic-phenomic association discovery without sacrificing anonymity

artículo científico publicado en 2013

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records

artículo científico publicado en 2013

Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans

artículo científico publicado en 2017

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

artículo científico publicado en 2017

Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals.

artículo científico publicado en 2016

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

artículo científico publicado en 2017

Evaluating statistical approaches to leverage large clinical datasets for uncovering therapeutic and adverse medication effects

artículo científico publicado en 2018

Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers

artículo científico publicado en 2020

Evaluation of a Novel System to Enhance Clinicians' Recognition of Preadmission Adverse Drug Reactions

artículo científico publicado en 2018

Evaluation of a Prediction Model for the Development of Atrial Fibrillation in a Repository of Electronic Medical Records

artículo científico publicado en 2016

Evaluation of a method to identify and categorize section headers in clinical documents

artículo científico publicado en 2009

Evaluation of a novel terminology to categorize clinical document section headers and a related clinical note section tagger ⬇️

master's thesis

Evaluation of the F2R IVS-14A/T PAR1 polymorphism with subsequent cardiovascular events and bleeding in patients who have undergone percutaneous coronary intervention

artículo científico publicado en 2015

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants

scientific article published on 20 September 2020

Evidence for extensive pleiotropy among pharmacogenes

scientific article published on June 2016

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.

artículo científico publicado en 2014

Exome-wide association study of plasma lipids in >300,000 individuals

artículo científico publicado en 2017

Extracting and integrating data from entire electronic health records for detecting colorectal cancer cases ⬇️

artículo científico publicado el 22 de octubre de 2011

Extracting and standardizing medication information in clinical text - the MedEx-UIMA system

artículo científico publicado en 2014

Extracting epidemiologic exposure and outcome terms from literature using machine learning approaches.

artículo científico publicado en 2012

Extracting research-quality phenotypes from electronic health records to support precision medicine

artículo científico publicado en 2015

Extracting semantic lexicons from discharge summaries using machine learning and the C-Value method ⬇️

artículo científico publicado el 3 de noviembre de 2012

Extracting timing and status descriptors for colonoscopy testing from electronic medical records.

artículo científico publicado en 2010

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin

artículo científico publicado en 2011

Facilitating phenotype transfer using a common data model

scientific article published on 17 July 2019

Finding a Needle in a QT Interval Big Data Haystack

artículo científico publicado en 2016

Formative evaluation to guide early deployment of an online content management tool for medical curriculum.

artículo científico publicado en 2003

Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies

artículo científico publicado en 2016

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

article

Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans

artículo científico publicado en 2013

Generating Clinical Notes for Electronic Health Record Systems

artículo científico publicado en 2010

Genetic Interactions with Age, Sex, Body Mass Index, and Hypertension in Relation to Atrial Fibrillation: The AFGen Consortium

artículo científico publicado en 2017

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

artículo científico publicado en 2016

Genetic determinants of variability in warfarin response after the dose-titration phase.

artículo científico publicado en 2016

Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network

artículo científico publicado en 2014

Genetic variants related to antihypertensive targets inform drug efficacy and side effects

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

artículo científico publicado en 2013

Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting

artículo científico publicado en 2014

Genetically determined serum urate levels and cardiovascular and other diseases in UK Biobank cohort: A phenome-wide mendelian randomization study

scientific article published on 18 October 2019

Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia

artículo científico publicado en 2015

Genetics of rheumatoid arthritis contributes to biology and drug discovery

artículo científico publicado en 2013

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

scientific article published on 05 March 2013

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy

artículo científico publicado en 2015

Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol

scientific article published on 23 May 2019

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

artículo científico publicado en 2015

Genome-wide and Phenome-wide Approaches to Understand Variable Drug Actions in Electronic Health Records

artículo científico publicado en 2017

Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults.

artículo científico publicado en 2017

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide study of resistant hypertension identified from electronic health records

artículo científico publicado en 2017

Genotype and risk of major bleeding during warfarin treatment

artículo científico publicado en 2014

Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.

artículo científico publicado en 2016

High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE

artículo científico publicado en 2012

Hypertension is a modifiable risk factor for osteonecrosis in acute lymphoblastic leukemia

scientific article published on 13 August 2019

Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science

artículo científico publicado en 2010

Identification of unique venous thromboembolism-susceptibility variants in African-Americans.

artículo científico publicado en 2017

Identifying Metastases-related Information from Pathology Reports of Lung Cancer Patients

artículo científico publicado en 2017

Identifying QT prolongation from ECG impressions using a general-purpose Natural Language Processor.

artículo científico publicado en 2008

Identifying QT prolongation from ECG impressions using natural language processing and negation detection

artículo científico

Identifying UMLS concepts from ECG Impressions using KnowledgeMap.

artículo científico publicado en 2005

Identifying genetically driven clinical phenotypes using linear mixed models

artículo científico publicado en 2016

Identifying lupus patients in electronic health records: Development and validation of machine learning algorithms and application of rule-based algorithms

scientific article published on 04 January 2019

Identifying potential drugs that induce QT prolongation using electronic medical records

artículo científico publicado en 2010

Importance of multi-modal approaches to effectively identify cataract cases from electronic health records

artículo científico publicado en 2012

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease

artículo científico publicado en 2019

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Increased monocyte count as a cellular biomarker for poor outcomes in fibrotic diseases: a retrospective, multicentre cohort study

scientific article published on 29 March 2019

Influence of human leukocyte antigen (HLA) alleles and killer cell immunoglobulin-like receptors (KIR) types on heparin-induced thrombocytopenia (HIT).

artículo científico publicado en 2017

Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations

artículo científico publicado en 2014

Integrating electronic health record genotype and phenotype datasets to transform patient care

artículo científico publicado en 2015

Integrating existing natural language processing tools for medication extraction from discharge summaries.

artículo científico publicado en 2010

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene

artículo científico publicado en 2014

Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions

artículo científico publicado en 2016

Intelligent use and clinical benefits of electronic health records in rheumatoid arthritis

artículo científico publicado en 2015

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes

artículo científico publicado en 2017

Joint mouse-human phenome-wide association to test gene function and disease risk

artículo científico publicado en 2016

Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks

artículo científico publicado en 2011

LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins

LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

artículo científico publicado en 2020

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

artículo científico publicado en 2016

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Learning from Longitudinal Data in Electronic Health Record and Genetic Data to Improve Cardiovascular Event Prediction

scientific article published in Scientific Reports

Learning to identify treatment relations in clinical text

artículo científico publicado en 2014

Lessons learned from developing a drug evidence base to support pharmacovigilance

artículo científico publicado en 2013

Letter by Mosley Regarding Article, "Iron Homeostasis and Pulmonary Hypertension: Iron Deficiency Leads to Pulmonary Vascular Remodeling in the Rat".

artículo científico publicado en 2015

Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use

artículo científico publicado en 2020

Limestone: high-throughput candidate phenotype generation via tensor factorization.

artículo científico publicado en 2014

MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank.

artículo científico publicado en 2018

Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network

artículo científico publicado en 2019

Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

artículo científico publicado en 2019

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.

artículo científico publicado en 2012

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data

artículo científico publicado en 2013

MedEx: a medication information extraction system for clinical narratives.

artículo científico publicado en 2010

Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk

scientific article published on 12 February 2020

Meta-analysis of genome-wide association studies of HDL cholesterol response to statins

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Mining Biomedical Literature for Terms related to Epidemiologic Exposures

artículo científico publicado en 2010

Modeling drug exposure data in electronic medical records: an application to warfarin.

artículo científico publicado en 2011

Modulators of normal electrocardiographic intervals identified in a large electronic medical record

artículo científico publicado en 2010

Multi-ethnic genome-wide association study for atrial fibrillation

article

Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention

artículo científico publicado en 2017

Natural language processing improves identification of colorectal cancer testing in the electronic medical record

artículo científico publicado en 2011

Naïve Electronic Health Record phenotype identification for Rheumatoid arthritis

artículo científico publicado en 2011

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

artículo científico publicado en 2015

On the Potential of Preemptive Genotyping Towards Preventing Medication-Related Adverse Events: Results from the South Korean National Health Insurance Database.

artículo científico publicado en 2017

Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project.

artículo científico publicado en 2012

Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation

artículo científico publicado en 2018

Opportunities for genomic clinical decision support interventions

artículo científico publicado en 2013

PASTE: patient-centered SMS text tagging in a medication management system

artículo científico publicado en 2011

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

artículo científico publicado en 2016

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

artículo científico publicado en 2018

PRECISION MEDICINE: FROM DIPLOTYPES TO DISPARITIES TOWARDS IMPROVED HEALTH AND THERAPIES.

artículo científico publicado en 2018

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Parsing clinical text: how good are the state-of-the-art parsers?

artículo científico publicado en 2015

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

artículo científico publicado en 2015

Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies

artículo científico publicado en 2016

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

artículo científico publicado en 2014

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

artículo científico publicado en 2016

PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records

scientific article published on 24 September 2020

PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS

artículo científico publicado en 2020

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

artículo científico publicado en 2010

Phenome-Wide Association Studies as a Tool to Advance Precision Medicine

artículo científico publicado en 2016

Phenome-Wide Association Study of Rheumatoid Arthritis Subgroups Identifies Association Between Seronegative Disease and Fibromyalgia

artículo científico publicado en 2016

Phenome-wide Mendelian-randomization study of genetically determined vitamin D on multiple health outcomes using the UK Biobank study

artículo científico publicado en 2019

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

scientific article published on 29 October 2019

Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways

scientific article published on 17 February 2020

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

artículo científico publicado en 2014

Phenome-wide association studies uncover a novel association of increased atrial fibrillation in males with systemic lupus erythematosus

artículo científico publicado en 2018

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

artículo científico publicado en 2014

Phenome-wide association study identifies marked increased in burden of comorbidities in African Americans with systemic lupus erythematosus.

artículo científico publicado en 2018

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.

artículo científico publicado en 2017

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

scientific article published in Science

Phenotyping Adverse Drug Reactions: Statin-Related Myotoxicity

artículo científico

Phenotyping through Semi-Supervised Tensor Factorization (PSST)

scientific article published on 05 December 2018

Physician response to implementation of genotype-tailored antiplatelet therapy

artículo científico publicado en 2015

Platelet Inhibitors Reduce Rupture in a Mouse Model of Established Abdominal Aortic Aneurysm

artículo científico publicado en 2015

Portability of an algorithm to identify rheumatoid arthritis in electronic health records.

artículo científico publicado en 2012

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

artículo científico publicado en 2016

Practical considerations in genomic decision support: The eMERGE experience

artículo científico publicado en 2015

Precision medicine informatics

artículo científico publicado en 2016

Predicting changes in hypertension control using electronic health records from a chronic disease management program

artículo científico publicado en 2013

Predicting clopidogrel response using DNA samples linked to an electronic health record.

artículo científico publicado en 2011

Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record

artículo científico publicado en 2012

PregOMICS-Leveraging systems biology and bioinformatics for drug repurposing in maternal-child health.

artículo científico publicado en 2018

Proceedings from the 9th annual conference on the science of dissemination and implementation: Washington, DC, USA. 14-15 December 2016.

artículo científico publicado en 2017

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application.

artículo científico publicado en 2017

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Pulling the covers in electronic health records for an association study with self-reported sleep behaviors

scientific article published on 05 September 2018

Qualitative study of system-level factors related to genomic implementation

artículo científico publicado en 2018

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Replication of Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies

article

Reply

Reply to Ward and Colleagues' Comment on "Using Human Experiments of Nature to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors"

artículo científico publicado en 2018

Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis.

artículo científico publicado en 2017

Research directions in the clinical implementation of pharmacogenomics - An Overview of US programs and projects

artículo científico publicado en 2018

Response to “Doubt About the Feasibility of Preemptive Genotyping”

article

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

artículo científico publicado en 2012

Review and evaluation of electronic health records-driven phenotype algorithm authoring tools for clinical and translational research.

artículo científico publicado en 2015

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record

artículo científico publicado en 2010

Rubik

2015 article

SJS/TEN 2017: Building Multidisciplinary Networks to Drive Science and Translation

artículo científico publicado en 2018

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

artículo científico publicado en 2016

STRATEGIES FOR EQUITABLE PHARMACOGENOMIC-GUIDED WARFARIN DOSING AMONG EUROPEAN AND AFRICAN AMERICAN INDIVIDUALS IN A CLINICAL POPULATION

artículo científico publicado en 2016

Scalable Data-driven Phenotypes via Unsupervised Feature Learning

artículo científico publicado en 2013

SecureMA: protecting participant privacy in genetic association meta-analysis

artículo científico publicado en 2014

Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization.

artículo científico publicado en 2014

Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.

artículo científico publicado en 2017

Size matters: how population size influences genotype-phenotype association studies in anonymized data

artículo científico publicado en 2014

Syntactic parsing of clinical text: guideline and corpus development with handling ill-formed sentences

artículo científico publicado en 2013

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

artículo científico publicado en 2017

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

artículo científico publicado en 2013

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits

artículo científico publicado en 2015

Teaching evidence-based medicine: Impact on students' literature use and inpatient clinical documentation

artículo científico publicado en 2011

The "All of Us" Research Program

artículo científico publicado en 2019

The All of Us Research Program: Data quality, utility, and diversity

artículo científico publicado en 2022

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

artículo científico publicado en 2013

The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.

artículo científico publicado en 2017

The IGNITE network: a model for genomic medicine implementation and research

artículo científico publicado en 2016

The KnowledgeMap project: development of a concept-based medical school curriculum database

artículo científico publicado en 2003

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation

artículo científico publicado en 2013

The Vanderbilt Experience with Electronic Health Records

article

The disclosure of diagnosis codes can breach research participants' privacy

artículo científico publicado en 2010

The effect of reducing maximum shift lengths to 16 hours on internal medicine interns' educational opportunities

artículo científico publicado en 2013

The influence of big (clinical) data and genomics on precision medicine and drug development.

artículo científico publicado en 2017

The phenotypic legacy of admixture between modern humans and Neandertals

artículo científico publicado en 2016

The polygenic architecture of left ventricular mass mirrors the clinical epidemiology

scientific article published on 05 May 2020

The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients

artículo científico publicado en 2012

Tracking medical students' clinical experiences using natural language processing

artículo científico publicado en 2009

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

scientific article published on 21 December 2018

Transcription factor ETV1 is essential for rapid conduction in the heart

artículo científico publicado en 2016

Type 2 diabetes risk forecasting from EMR data using machine learning ⬇️

artículo científico publicado el 3 de noviembre de 2012

Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling

article

Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects

scientific article published on 25 June 2019

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

artículo científico publicado en 2011

Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors

artículo científico publicado en 2017

Using natural language processing to provide personalized learning opportunities from trainee clinical notes.

artículo científico

Using systems approaches to address challenges for clinical implementation of pharmacogenomics

Using systems approaches to address challenges for clinical implementation of pharmacogenomics.

artículo científico publicado en 2013

Using topic modeling via non-negative matrix factorization to identify relationships between genetic variants and disease phenotypes: A case study of Lipoprotein(a) (LPA)

artículo científico publicado en 2019

Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients

artículo científico publicado en 2014

Validating drug repurposing signals using electronic health records: a case study of metformin associated with reduced cancer mortality

artículo científico publicado en 2015

Validation and enhancement of a computable medication indication resource (MEDI) using a large practice-based dataset

artículo científico publicado en 2013

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

artículo científico publicado en 2013

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

artículo científico publicado en 2011

eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

artículo científico publicado en 2016

eMERGEing progress in genomics-the first seven years

artículo científico publicado en 2014

ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow

artículo científico publicado en 2015

medExtractR: A targeted, customizable approach to medication extraction from electronic health records

scientific article published on 01 March 2020

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