Scholars@Duke
Geoffrey Steven Ginsburg

Geoffrey Steven Ginsburg

Adjunct Professor in the Department of Medicine
Medicine, Cardiology
Duke Box 3382, Durham, NC 27710
101 Science Dr, Rm 2111, CIEMAS Bldg, Durham, NC 27708

Selected Publications

The International Health Cohorts Consortium (IHCC) advances population health research and genomic discovery

Journal Article Communications Medicine · December 1, 2025 Established in 2018 to push beyond the constraints of individual health and population cohorts, the IHCC is a community of cohorts advancing global science and health. We summarize the collective resources of 69 member cohorts, representing over 34 million ... Full text Cite

Advancing the science of genomic learning healthcare systems.

Journal Article Learn Health Syst · October 2025 INTRODUCTION: Identifying key characteristics of exemplar genomic learning healthcare systems (gLHS) and knowledge gaps that can be explored by collaboration among them is likely to accelerate the sharing of best practices and generation of evidence that i ... Full text Link to item Cite

Molecular dynamics of the host response to Streptococcus pneumoniae pneumonia in baboons.

Journal Article Animal Model Exp Med · September 14, 2025 BACKGROUND: Bacterial pneumonia remains a leading cause of morbidity and mortality worldwide despite the widespread availability of antibiotics. Novel pneumonia therapies and biomarkers are urgently needed to improve outcomes and advance personalized thera ... Full text Link to item Cite

All of Us Research Program year in review: 2024.

Journal Article Am J Hum Genet · September 4, 2025 Full text Link to item Cite

A Model for Rapid Innovation for Engagement, Enrollment, and Data and Sample Collection in a Diverse Cohort Study: Insights from All of Us Participant Labs

Journal Article Mayo Clinic Proceedings Digital Health · September 1, 2025 Objective: To improve engagement and retention of a cohort that reflects the US population within the All of Us Research Program, we created and implemented an innovation infrastructure and initiatives. Participants and Methods: All of Us participant labor ... Full text Cite

Biobanking with genetics shapes precision medicine and global health.

Journal Article Nat Rev Genet · March 2025 Precision medicine provides patients with access to personally tailored treatments based on individual-level data. However, developing personalized therapies requires analyses with substantial statistical power to map genetic and epidemiologic associations ... Full text Link to item Cite

A call to action to scale up research and clinical genomic data sharing.

Journal Article Nat Rev Genet · February 2025 Genomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to equitably realize the benefits of the diversity and sc ... Full text Link to item Cite

A Rapid Host Response Blood Test for Bacterial/Viral Infection Discrimination Using a Portable Molecular Diagnostic Platform.

Journal Article Open Forum Infect Dis · January 2025 BACKGROUND: Difficulty discriminating bacterial versus viral etiologies of infection drives unwarranted antibacterial prescriptions and, therefore, antibacterial resistance. METHODS: Utilizing a rapid portable test that measures peripheral blood host gene ... Full text Link to item Cite

Genomic medicine year in review: 2024.

Journal Article Am J Hum Genet · December 5, 2024 Full text Link to item Cite

All of Us Research Program year in review: 2023-2024.

Journal Article Am J Hum Genet · September 5, 2024 Full text Link to item Cite

Weight, habitual fibre intake, and microbiome composition predict tolerance to fructan supplementation.

Journal Article Int J Food Sci Nutr · September 2024 Fructans are commonly used as dietary fibre supplements for their ability to promote the growth of beneficial gut microbes. However, fructan consumption has been associated with various dosage-dependent side effects. We characterised side effects in an exp ... Full text Link to item Cite

Predictive signature of murine and human host response to typical and atypical pneumonia.

Journal Article BMJ Open Respir Res · August 3, 2024 BACKGROUND: Pneumonia due to typical bacterial, atypical bacterial and viral pathogens can be difficult to clinically differentiate. Host response-based diagnostics are emerging as a complementary diagnostic strategy to pathogen detection. METHODS: We used ... Full text Link to item Cite

Implementing a pragmatic clinical trial to tailor opioids for chronic pain on behalf of the IGNITE ADOPT PGx investigators.

Journal Article Clin Transl Sci · August 2024 Chronic pain is a prevalent condition with enormous economic burden. Opioids such as tramadol, codeine, and hydrocodone are commonly used to treat chronic pain; these drugs are activated to more potent opioid receptor agonists by the hepatic CYP2D6 enzyme. ... Full text Link to item Cite

Lipoprotein subclasses are associated with Hepatic steatosis: insights from the prospective multicenter imaging study for the evaluation of chest pain (PROMISE) clinical trial.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVES: To determine the relationship between lipoprotein particle size/number with hepatic steatosis (HS), given its association with traditional lipoproteins and coronary atherosclerosis. METHODS: Individuals with available CT data and blood samples ... Full text Link to item Cite

Rationale and design for a pragmatic randomized trial to assess gene-based prescribing for SSRIs in the treatment of depression.

Journal Article Clin Transl Sci · June 2024 Specific selective serotonin reuptake inhibitors (SSRIs) metabolism is strongly influenced by two pharmacogenes, CYP2D6 and CYP2C19. However, the effectiveness of prospectively using pharmacogenetic variants to select or dose SSRIs for depression is uncert ... Full text Link to item Cite

Remote digital health technologies for improving the care of people with respiratory disorders.

Journal Article Lancet Digit Health · April 2024 Respiratory diseases are a leading cause of morbidity and mortality globally. However, existing systems of care, built around scheduled appointments, are not well designed to support the needs of people with chronic and acute respiratory conditions that ca ... Full text Link to item Cite

Identifying a stable and generalizable factor structure of major depressive disorder across three large longitudinal cohorts.

Journal Article Psychiatry Res · March 2024 The Patient Health Questionnaire 9 (PHQ-9) is the current standard outpatient screening tool for measuring and tracking the nine symptoms of major depressive disorder (MDD). While the PHQ-9 was originally conceptualized as a unidimensional measure, it has ... Full text Link to item Cite

Implementation of a Prospective Index-Cluster Sampling Strategy for the Detection of Presymptomatic Viral Respiratory Infection in Undergraduate Students.

Journal Article Open Forum Infect Dis · March 2024 BACKGROUND: Index-cluster studies may help characterize the spread of communicable infections in the presymptomatic state. We describe a prospective index-cluster sampling strategy (ICSS) to detect presymptomatic respiratory viral illness and its implement ... Full text Link to item Cite

Platelet RNA Biomarker of Ticagrelor-Responsive Genes Is Associated With Platelet Function and Cardiovascular Events.

Journal Article Arterioscler Thromb Vasc Biol · February 2024 BACKGROUND: Identifying patients with the optimal risk:benefit for ticagrelor is challenging. The aim was to identify ticagrelor-responsive platelet transcripts as biomarkers of platelet function and cardiovascular risk. METHODS: Healthy volunteers (n=58, ... Full text Link to item Cite

The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research.

Journal Article Nat Med · February 2024 The All of Us Research Program has prioritized the enrollment of people from backgrounds historically underrepresented in medical research to bring precision medicine to the full diversity of the US population and to improve health outcomes for all. ... Full text Link to item Cite

Pathogen class-specific transcriptional responses derived from PBMCs accurately discriminate between fungal, bacterial, and viral infections.

Journal Article PLoS One · 2024 Immune responses during acute infection often contain canonical elements which are shared across the responses to an array of agents within a given pathogen class (i.e., respiratory viral infection). Identification of these shared, canonical elements acros ... Full text Link to item Cite

Genetic and Survey Data Improves Performance of Machine Learning Model for Long COVID.

Journal Article Res Sq · December 19, 2023 Over 200 million SARS-CoV-2 patients have or will develop persistent symptoms (long COVID). Given this pressing research priority, the National COVID Cohort Collaborative (N3C) developed a machine learning model using only electronic health record data to ... Full text Link to item Cite

Host-response transcriptional biomarkers accurately discriminate bacterial and viral infections of global relevance.

Journal Article Sci Rep · December 18, 2023 Diagnostic limitations challenge management of clinically indistinguishable acute infectious illness globally. Gene expression classification models show great promise distinguishing causes of fever. We generated transcriptional data for a 294-participant ... Full text Link to item Cite

Data-driven science and diversity in the All of Us Research Program.

Journal Article Sci Transl Med · December 13, 2023 The National Institutes of Health's All of Us Research Program is an accessible platform that hosts genomic and phenotypic data to be collected from 1 million participants in the United States. Its mission is to accelerate medical research and clinical bre ... Full text Link to item Cite

Genomic medicine year in review: 2023.

Journal Article Am J Hum Genet · December 7, 2023 Full text Link to item Cite

Wearable Digital Health Technology.

Journal Article N Engl J Med · November 30, 2023 Full text Link to item Cite

Branched-Chain Amino Acids in Computed Tomography-Defined Adipose Depots and Coronary Artery Disease: A PROMISE Trial Biomarker Substudy.

Journal Article J Am Heart Assoc · June 6, 2023 Background The interplay between branched-chain amino acid (BCAA) metabolism, an important pathway in adiposity and cardiometabolic disease, and visceral adipose depots such as hepatic steatosis (HS) and epicardial adipose tissue is unknown. We leveraged t ... Full text Link to item Cite

An antiplatelet response gene expression signature is associated with bleeding.

Journal Article Cardiovasc Res · March 31, 2023 AIMS: Gene expression biosignatures may hold promise to individualize antiplatelet therapy in conjunction with current guidelines and risk scores. The Aspirin Response Signature (ARS) score is comprised of a weighted sum of correlated, pro-thrombotic gene ... Full text Link to item Cite

Lipoprotein Subclasses Associated With High-Risk Coronary Atherosclerotic Plaque: Insights From the PROMISE Clinical Trial.

Journal Article J Am Heart Assoc · January 3, 2023 BACKGROUND More than half of major adverse cardiovascular events (MACE) occur in the absence of obstructive coronary artery disease and are often attributed to the rupture of high-risk coronary atherosclerotic plaque (HRP). Blood-based biomarkers that asso ... Full text Link to item Cite

Development of Competency-based Online Genomic Medicine Training (COGENT).

Journal Article Per Med · January 2023 The fields of genetics and genomics have greatly expanded across medicine through the development of new technologies that have revealed genetic contributions to a wide array of traits and diseases. Thus, the development of widely available educational res ... Full text Link to item Cite

Murine Host Response to Typical and Atypical Pneumonia

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · 2023 Cite

Pre-exposure cognitive performance variability is associated with severity of respiratory infection.

Journal Article Sci Rep · December 30, 2022 Using data from a longitudinal viral challenge study, we find that the post-exposure viral shedding and symptom severity are associated with a novel measure of pre-exposure cognitive performance variability (CPV), defined before viral exposure occurs. Each ... Full text Link to item Cite

Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities.

Journal Article BMC Health Serv Res · December 6, 2022 BACKGROUND: Systematically assessing disease risk can improve population health by identifying those eligible for enhanced prevention/screening strategies. This study aims to determine the clinical impact of a systematic risk assessment in diverse primary ... Full text Link to item Cite

Host Gene Expression to Predict Sepsis Progression.

Journal Article Crit Care Med · December 1, 2022 OBJECTIVES: Sepsis causes significant mortality. However, most patients who die of sepsis do not present with severe infection, hampering efforts to deliver early, aggressive therapy. It is also known that the host gene expression response to infection pre ... Full text Link to item Cite

Risk factors for cardiovascular disease among individuals with hepatic steatosis.

Journal Article Hepatol Commun · December 2022 Cardiovascular disease (CVD) is the leading cause of mortality in adults with hepatic steatosis (HS). However, risk factors for CVD in HS are unknown. We aimed to identify factors associated with coronary artery disease (CAD) and incident major adverse car ... Full text Link to item Cite

Genomic Medicine Year in Review: 2022.

Journal Article Am J Hum Genet · December 1, 2022 Full text Link to item Cite

Health coaching and genetic risk testing in primary care: Randomized controlled trial.

Journal Article Health Psychol · October 2022 OBJECTIVE: Accessible interventions are needed to prevent coronary heart disease (CHD) and Type 2 diabetes (T2D). This prospective, randomized, controlled trial evaluated remote health coaching (HC), genetic risk testing (GRT), or both added to standardize ... Full text Link to item Cite

Associations of a polygenic risk score with coronary artery disease phenotypes in the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial.

Journal Article Am Heart J · October 2022 A polygenic risk score (PGS) is associated with obstructive coronary artery disease (CAD) independent of traditional risk factors. Coronary computed tomography angiography (CTA) can characterize coronary plaques, including features of highrisk CAD. However ... Full text Link to item Cite

A method for intelligent allocation of diagnostic testing by leveraging data from commercial wearable devices: a case study on COVID-19.

Journal Article NPJ Digit Med · September 1, 2022 Mass surveillance testing can help control outbreaks of infectious diseases such as COVID-19. However, diagnostic test shortages are prevalent globally and continue to occur in the US with the onset of new COVID-19 variants and emerging diseases like monke ... Full text Link to item Cite

Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.

Journal Article JACC Cardiovasc Imaging · August 2022 BACKGROUND: Increased inflammation and myocardial injury can be observed in the absence of myocardial infarction or obstructive coronary artery disease (CAD). OBJECTIVES: The authors determined whether biomarkers of inflammation and myocardial injury-inter ... Full text Link to item Cite

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

Journal Article J Am Med Inform Assoc · July 12, 2022 OBJECTIVE: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articu ... Full text Link to item Cite

Differential chromatin accessibility in peripheral blood mononuclear cells underlies COVID-19 disease severity prior to seroconversion.

Journal Article Sci Rep · July 9, 2022 SARS-CoV-2 infection triggers profound and variable immune responses in human hosts. Chromatin remodeling has been observed in individuals severely ill or convalescing with COVID-19, but chromatin remodeling early in disease prior to anti-spike protein IgG ... Full text Open Access Link to item Cite

Digital health-enabled genomics: Opportunities and challenges.

Journal Article Am J Hum Genet · July 7, 2022 Digital health solutions, with apps, virtual care, and electronic medical records, are gaining momentum across all medical disciplines, and their adoption has been accelerated, in part, by the COVID-19 pandemic. Personal wearables, sensors, and mobile tech ... Full text Link to item Cite

A precision medicine approach to stress testing using metabolomics and microribonucleic acids.

Journal Article Per Med · July 2022 Both transcriptomics and metabolomics hold promise for identifying acute coronary syndrome (ACS) but they have not been used in combination, nor have dynamic changes in levels been assessed as a diagnostic tool. We assessed integrated analysis of periphera ... Full text Link to item Cite

A hands-free stool sampling system for monitoring intestinal health and disease.

Journal Article Sci Rep · June 27, 2022 Analysis of stool offers simple, non-invasive monitoring for many gastrointestinal (GI) diseases and access to the gut microbiome, however adherence to stool sampling protocols remains a major challenge because of the prevalent dislike of handling one's fe ... Full text Link to item Cite

Global priorities for large-scale biomarker-based prospective cohorts

Journal Article Cell Genomics · June 8, 2022 The focus of this paper is on strategic approaches for establishing population-based prospective cohorts that collect and store biological samples from very large numbers of participants to help identify the determinants of common health outcomes. In parti ... Full text Cite

Harnessing the Power of Artificial Intelligence in Otolaryngology and the Communication Sciences.

Journal Article J Assoc Res Otolaryngol · June 2022 Use of artificial intelligence (AI) is a burgeoning field in otolaryngology and the communication sciences. A virtual symposium on the topic was convened from Duke University on October 26, 2020, and was attended by more than 170 participants worldwide. Th ... Full text Link to item Cite

Aspirin effects on platelet gene expression are associated with a paradoxical, increase in platelet function.

Journal Article Br J Clin Pharmacol · May 2022 Aspirin has known effects beyond inhibiting platelet cyclooxygenase-1 (COX-1) that have been incompletely characterized. Transcriptomics can comprehensively characterize the on- and off-target effects of medications. We used a systems pharmacogenomics appr ... Full text Link to item Cite

Differential chromatin accessibility in peripheral blood mononuclear cells underlies COVID-19 disease severity prior to seroconversion.

Journal Article Res Sq · April 7, 2022 SARS-CoV-2 infection triggers profound and variable immune responses in human hosts. Chromatin remodeling has been observed in individuals severely ill or convalescing with COVID-19, but chromatin remodeling early in disease prior to anti-spike protein IgG ... Full text Open Access Link to item Cite

A Method for Intelligent Allocation of Diagnostic Testing by Leveraging Data from Commercial Wearable Devices: A Case Study on COVID-19.

Journal Article Res Sq · April 1, 2022 Mass surveillance testing can help control outbreaks of infectious diseases such as COVID-19. However, diagnostic test shortages are prevalent globally and continue to occur in the US with the onset of new COVID-19 variants, demonstrating an unprecedented ... Full text Link to item Cite

Prospective Validation of a Rapid Host Gene Expression Test to Discriminate Bacterial From Viral Respiratory Infection.

Journal Article JAMA Netw Open · April 1, 2022 IMPORTANCE: Bacterial and viral causes of acute respiratory illness (ARI) are difficult to clinically distinguish, resulting in the inappropriate use of antibacterial therapy. The use of a host gene expression-based test that is able to discriminate bacter ... Full text Open Access Link to item Cite

Systematic comparison of published host gene expression signatures for bacterial/viral discrimination.

Journal Article Genome Med · February 21, 2022 BACKGROUND: Measuring host gene expression is a promising diagnostic strategy to discriminate bacterial and viral infections. Multiple signatures of varying size, complexity, and target populations have been described. However, there is little information ... Full text Open Access Link to item Cite

Genomic and Precision Medicine: Oncology, Third Edition

Book · January 1, 2022 Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and ... Full text Cite

Genomic medicine year in review: 2021.

Journal Article Am J Hum Genet · December 2, 2021 Full text Link to item Cite

Comparing the Diagnostic Accuracy of Clinician Judgment to a Novel Host Response Diagnostic for Acute Respiratory Illness.

Journal Article Open Forum Infect Dis · December 2021 BACKGROUND: Difficulty discriminating bacterial from viral infections drives antibacterial misuse. Host gene expression tests discriminate bacterial and viral etiologies, but their clinical utility has not been evaluated. METHODS: Host gene expression and ... Full text Open Access Link to item Cite

Experience and Perceptions of a Family Health History Risk Assessment Tool among Multi-Ethnic Asian Breast Cancer Patients.

Journal Article J Pers Med · October 19, 2021 A family health history-based risk assessment is particularly valuable for guiding cancer screening and treatment strategies, yet an optimal implementation depends upon end-users' values and needs. This is not only true prior to disease development, but al ... Full text Open Access Link to item Cite

The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.

Journal Article Am J Hum Genet · October 7, 2021 The clinical application of genetics and genomics to advance precision health is one of the most dynamic and promising areas of medicine. In 2020, building on nearly 15 years of work, the Roundtable on Genomics and Precision Health of the National Academie ... Full text Link to item Cite

Discriminating Bacterial and Viral Infection Using a Rapid Host Gene Expression Test.

Journal Article Crit Care Med · October 1, 2021 OBJECTIVES: Host gene expression signatures discriminate bacterial and viral infection but have not been translated to a clinical test platform. This study enrolled an independent cohort of patients to describe and validate a first-in-class host response b ... Full text Open Access Link to item Cite

Assessment of the Feasibility of Using Noninvasive Wearable Biometric Monitoring Sensors to Detect Influenza and the Common Cold Before Symptom Onset.

Journal Article JAMA Netw Open · September 1, 2021 IMPORTANCE: Currently, there are no presymptomatic screening methods to identify individuals infected with a respiratory virus to prevent disease spread and to predict their trajectory for resource allocation. OBJECTIVE: To evaluate the feasibility of usin ... Full text Open Access Link to item Cite

Validation of a Host Gene Expression Test for Bacterial/Viral Discrimination in Immunocompromised Hosts.

Journal Article Clin Infect Dis · August 16, 2021 BACKGROUND: Host gene expression has emerged as a complementary strategy to pathogen detection tests for the discrimination of bacterial and viral infection. The impact of immunocompromise on host-response tests remains unknown. We evaluated a host-respons ... Full text Open Access Link to item Cite

Adaptive Multi-Channel Event Segmentation and Feature Extraction for Monitoring Health Outcomes.

Journal Article IEEE Trans Biomed Eng · August 2021 OBJECTIVE: To develop a multi-channel device event segmentation and feature extraction algorithm that is robust to changes in data distribution. METHODS: We introduce an adaptive transfer learning algorithm to classify and segment events from non-stationar ... Full text Link to item Cite

Heparin-based blood purification attenuates organ injury in baboons with Streptococcus pneumoniae pneumonia.

Journal Article Am J Physiol Lung Cell Mol Physiol · August 1, 2021 Bacterial pneumonia is a major cause of morbidity and mortality worldwide despite the use of antibiotics, and novel therapies are urgently needed. Building on previous work, we aimed to 1) develop a baboon model of severe pneumococcal pneumonia and sepsis ... Full text Link to item Cite

Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network.

Journal Article J Pers Med · July 8, 2021 The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data; however, it is not yet clear which strategies are best suited for this pur ... Full text Link to item Cite

The host transcriptional response to Candidemia is dominated by neutrophil activation and heme biosynthesis and supports novel diagnostic approaches.

Journal Article Genome Med · July 5, 2021 BACKGROUND: Candidemia is one of the most common nosocomial bloodstream infections in the United States, causing significant morbidity and mortality in hospitalized patients, but the breadth of the host response to Candida infections in human patients rema ... Full text Open Access Link to item Cite

Association of Hepatic Steatosis With Major Adverse Cardiovascular Events, Independent of Coronary Artery Disease.

Journal Article Clin Gastroenterol Hepatol · July 2021 BACKGROUND & AIMS: Hepatic steatosis has been associated with increased risk of major adverse cardiovascular events (MACE) but it is not clear whether steatosis is independently associated with risk of MACE. We investigated whether steatosis is associated ... Full text Link to item Cite

Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network.

Journal Article Genet Med · July 2021 PURPOSE: A critical gap in the adoption of genomic medicine into medical practice is the need for the rigorous evaluation of the utility of genomic medicine interventions. METHODS: The Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN) ... Full text Open Access Link to item Cite

An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.

Journal Article Genome Med · May 17, 2021 BACKGROUND: While genome-wide associations studies (GWAS) have successfully elucidated the genetic architecture of complex human traits and diseases, understanding mechanisms that lead from genetic variation to pathophysiology remains an important challeng ... Full text Open Access Link to item Cite

Association of Metabolic Phenotypes With Coronary Artery Disease and Cardiovascular Events in Patients With Stable Chest Pain.

Journal Article Diabetes Care · April 2021 OBJECTIVE: Obesity and metabolic syndrome are associated with major adverse cardiovascular events (MACE). However, whether distinct metabolic phenotypes differ in risk for coronary artery disease (CAD) and MACE is unknown. We sought to determine the associ ... Full text Link to item Cite

Clinical implementation of an oncology-specific family health history risk assessment tool.

Journal Article Hered Cancer Clin Pract · March 20, 2021 BACKGROUND: The presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of hereditary cancer syndromes in routin ... Full text Open Access Link to item Cite

A blood-based host gene expression assay for early detection of respiratory viral infection: an index-cluster prospective cohort study.

Journal Article Lancet Infect Dis · March 2021 BACKGROUND: Early and accurate identification of individuals with viral infections is crucial for clinical management and public health interventions. We aimed to assess the ability of transcriptomic biomarkers to identify naturally acquired respiratory vi ... Full text Open Access Link to item Cite

Dysregulated transcriptional responses to SARS-CoV-2 in the periphery.

Journal Article Nat Commun · February 17, 2021 SARS-CoV-2 infection has been shown to trigger a wide spectrum of immune responses and clinical manifestations in human hosts. Here, we sought to elucidate novel aspects of the host response to SARS-CoV-2 infection through RNA sequencing of peripheral bloo ... Full text Open Access Link to item Cite

Platelet reactivity in response to aspirin and ticagrelor in African-Americans and European-Americans.

Journal Article J Thromb Thrombolysis · February 2021 Platelet gene polymorphisms are associated with variable on-treatment platelet reactivity and vary by race. Whether differences in platelet reactivity and aspirin or ticagrelor exist between African-American and European-Americans remains poorly understood ... Full text Link to item Cite

Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Journal Article Genome Med · January 7, 2021 BACKGROUND: Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the valu ... Full text Link to item Cite

The Host Response to Viral Infections Reveals Common and Virus-Specific Signatures in the Peripheral Blood.

Journal Article Front Immunol · 2021 Viruses cause a wide spectrum of clinical disease, the majority being acute respiratory infections (ARI). In most cases, ARI symptoms are similar for different viruses although severity can be variable. The objective of this study was to understand the sha ... Full text Open Access Link to item Cite

A comparison of host response strategies to distinguish bacterial and viral infection.

Journal Article PloS one · January 2021 ObjectivesCompare three host response strategies to distinguish bacterial and viral etiologies of acute respiratory illness (ARI).MethodsIn this observational cohort study, procalcitonin, a 3-protein panel (CRP, IP-10, TRAIL), and a host ... Full text Open Access Cite

An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.

Journal Article medRxiv · December 22, 2020 While genome-wide associations studies (GWAS) have successfully elucidated the genetic architecture of complex human traits and diseases, understanding mechanisms that lead from genetic variation to pathophysiology remains an important challenge. Methods a ... Full text Link to item Cite

Chromatin remodeling in peripheral blood cells reflects COVID-19 symptom severity.

Journal Article bioRxiv · December 9, 2020 SARS-CoV-2 infection triggers highly variable host responses and causes varying degrees of illness in humans. We sought to harness the peripheral blood mononuclear cell (PBMC) response over the course of illness to provide insight into COVID-19 physiology. ... Full text Open Access Link to item Cite

Genomic Medicine Year in Review: 2020.

Journal Article Am J Hum Genet · December 3, 2020 Full text Link to item Cite

At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care.

Journal Article BMC Health Serv Res · November 7, 2020 BACKGROUND: Risk assessment is a precision medicine technique that can be used to enhance population health when applied to prevention. Several barriers limit the uptake of risk assessment in health care systems; and little is known about the potential imp ... Full text Link to item Cite

Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

Journal Article Genet Med · October 2020 An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Full text Link to item Cite

Global approaches to genomic medicine implementation.

Journal Article Sci Transl Med · September 30, 2020 A snapshot of large-scale genomic medicine implementation initiatives worldwide illustrates similarities in policy considerations. ... Full text Link to item Cite

Dysregulated transcriptional responses to SARS-CoV-2 in the periphery support novel diagnostic approaches.

Journal Article medRxiv · July 26, 2020 In order to elucidate novel aspects of the host response to SARS-CoV-2 we performed RNA sequencing on peripheral blood samples across 77 timepoints from 46 subjects with COVID-19 and compared them to subjects with seasonal coronavirus, influenza, bacterial ... Full text Open Access Link to item Cite

Influence of Sex on Platelet Reactivity in Response to Aspirin.

Journal Article J Am Heart Assoc · July 21, 2020 Background There are sex differences in the efficacy and safety of aspirin for the prevention of myocardial infarction and stroke. Whether this is explained by underlying differences in platelet reactivity and aspirin response remains poorly understood. Me ... Full text Link to item Cite

Evaluation of family health history collection methods impact on data and risk assessment outcomes.

Journal Article Prev Med Rep · June 2020 Information technology applications for patient-collection of family health history (FHH) increase identification of elevated-risk individuals compared to usual care. It is unknown if the method of collection impacts data collected or if simply going direc ... Full text Link to item Cite

Previously Derived Host Gene Expression Classifiers Identify Bacterial and Viral Etiologies of Acute Febrile Respiratory Illness in a South Asian Population.

Journal Article Open Forum Infect Dis · June 2020 BACKGROUND: Pathogen-based diagnostics for acute respiratory infection (ARI) have limited ability to detect etiology of illness. We previously showed that peripheral blood-based host gene expression classifiers accurately identify bacterial and viral ARI i ... Full text Open Access Link to item Cite

Enabling Technologies for Personalized and Precision Medicine.

Journal Article Trends Biotechnol · May 2020 Individualizing patient treatment is a core objective of the medical field. Reaching this objective has been elusive owing to the complex set of factors contributing to both disease and health; many factors, from genes to proteins, remain unknown in their ... Full text Link to item Cite

Nasal microbiota exhibit neither reproducible nor orderly dynamics following rhinoviral infection

Journal Article · April 17, 2020 ABSTRACTBackgroundHow human-associated microbial communities resist and respond to perturbations remains incompletely understood. Viral challenge provides one opportunity to test how human ... Full text Cite

Promoting Wellness Through Mobile Health Technology in a College Student Population: Protocol Development and Pilot Study.

Journal Article JMIR Res Protoc · April 3, 2020 BACKGROUND: The health and well-being of college students has garnered widespread attention and concern in recent years. At the same time, the expansion and evaluation of digital technologies has grown in recent years for different target populations. OBJE ... Full text Link to item Cite

Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era

Journal Article · January 30, 2020 AbstractBackgroundFamily history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards gen ... Full text Cite

The Project Baseline Health Study: a step towards a broader mission to map human health.

Journal Article NPJ Digit Med · 2020 The Project Baseline Health Study (PBHS) was launched to map human health through a comprehensive understanding of both the health of an individual and how it relates to the broader population. The study will contribute to the creation of a biomedical info ... Full text Open Access Link to item Cite

Genomic Medicine Year in Review: 2019.

Journal Article Am J Hum Genet · December 5, 2019 Full text Link to item Cite

Rapid, Sample-to-Answer Host Gene Expression Test to Diagnose Viral Infection.

Journal Article Open Forum Infect Dis · November 2019 OBJECTIVE: Distinguishing bacterial, viral, or other etiologies of acute illness is diagnostically challenging with significant implications for appropriate antimicrobial use. Host gene expression offers a promising approach, although no clinically useful ... Full text Open Access Link to item Cite

Promoting Wellness Through Mobile Health Technology in a College Student Population: Protocol Development and Pilot Study (Preprint)

Journal Article · October 2, 2019 BACKGROUNDThe health and well-being of college students has garnered widespread attention and concern in recent years. At the same time, the expansion and evaluation of digital technologi ... Full text Cite

Validation of a host response test to distinguish bacterial and viral respiratory infection.

Journal Article EBioMedicine · October 2019 BACKGROUND: Distinguishing bacterial and viral respiratory infections is challenging. Novel diagnostics based on differential host gene expression patterns are promising but have not been translated to a clinical platform nor extensively tested. Here, we v ... Full text Open Access Link to item Cite

Family health history: underused for actionable risk assessment.

Journal Article Lancet · August 17, 2019 Family health history (FHH) is the most useful means of assessing risk for common chronic diseases. The odds ratio for risk of developing disease with a positive FHH is frequently greater than 2, and actions can be taken to mitigate risk by adhering to scr ... Full text Link to item Cite

Opportunities, resources, and techniques for implementing genomics in clinical care.

Journal Article Lancet · August 10, 2019 Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from the research laboratory into clinical care. Genomic medicine, or t ... Full text Link to item Cite

Facilitating translational team science: The project leader model.

Journal Article J Clin Transl Sci · August 2019 Project management expertise is employed across many professional sectors, including clinical research organizations, to ensure that efforts undertaken by the organization are completed on time and according to specifications and are capable of achieving t ... Full text Link to item Cite

Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

Journal Article Genet Med · July 2019 The original version of this Article contained an error in the spelling of the author Geoffrey S. Ginsburg, which was incorrectly given as Geoffrey Ginsburg. This has now been corrected in both the PDF and HTML versions of the Article. ... Full text Link to item Cite

Qualitative study of system-level factors related to genomic implementation.

Journal Article Genet Med · July 2019 PURPOSE: Research on genomic medicine integration has focused on applications at the individual level, with less attention paid to implementation within clinical settings. Therefore, we conducted a qualitative study using the Consolidated Framework for Imp ... Full text Link to item Cite

What will it take to implement genomics in practice? Lessons from the IGNITE Network.

Journal Article Per Med · July 2019 “IGNITE provides an exemplar of this novel science and it has sparked an opportunity for community-based practices to begin implementing genomics in their own environments and for patients and advocates to form genomic programs designed to improve their ow ... Full text Link to item Cite

High-Sensitivity Troponin I and Coronary Computed Tomography in Symptomatic Outpatients With Suspected CAD: Insights From the PROMISE Trial.

Journal Article JACC Cardiovasc Imaging · June 2019 OBJECTIVES: The goal of this study was to examine associations between concentrations of high-sensitivity troponin I (hsTnI) (measured by using a single-molecule counting method) and obstructive coronary artery disease (CAD) in 1,844 stable, symptomatic ou ... Full text Link to item Cite

Primary Care Physicians' Knowledge, Attitudes, and Experience with Personal Genetic Testing.

Journal Article J Pers Med · May 24, 2019 Primary care providers (PCPs) will play an important role in precision medicine. However, their lack of training and knowledge about genetics and genomics may limit their ability to advise patients or interpret or utilize test results. We evaluated PCPs' a ... Full text Link to item Cite

Reply: hs-cTnI in Stable Chest Pain.

Journal Article J Am Coll Cardiol · April 30, 2019 Full text Link to item Cite

A Global Collaborative to Advance Genomic Medicine.

Journal Article Am J Hum Genet · March 7, 2019 Full text Link to item Cite

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

Journal Article Genet Med · March 2019 PURPOSE: While there is growing scientific evidence for and significant advances in the use of genomic technologies in medicine, there is a significant lag in the clinical adoption and sustainability of genomic medicine. Here we describe the findings from ... Full text Link to item Cite

Effect of Sociodemographic Factors on Uptake of a Patient-Facing Information Technology Family Health History Risk Assessment Platform.

Journal Article Appl Clin Inform · March 2019 OBJECTIVE: Investigate sociodemographic differences in the use of a patient-facing family health history (FHH)-based risk assessment platform. METHODS: In this large multisite trial with a diverse patient population, we evaluated the relationship between s ... Full text Link to item Cite

Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework.

Journal Article Genet Med · February 2019 PURPOSE: This paper describes the implementation outcomes associated with integrating a family health history-based risk assessment and clinical decision support platform within primary care clinics at four diverse healthcare systems. METHODS: A type III h ... Full text Link to item Cite

Single-Molecule hsTnI and Short-Term Risk in Stable Patients With Chest Pain.

Journal Article J Am Coll Cardiol · January 29, 2019 BACKGROUND: Evaluation of stable symptomatic outpatients with suspected coronary artery disease (CAD) may be challenging because they have a wide range of cardiovascular risk. The role of troponin testing to assist clinical decision making in this setting ... Full text Link to item Cite

Pilot study of myocardial ischemia-induced metabolomic changes in emergency department patients undergoing stress testing.

Journal Article PLoS One · 2019 BACKGROUND: The heart is a metabolically active organ, and plasma acylcarnitines are associated with long-term risk for myocardial infarction. We hypothesized that myocardial ischemia from cardiac stress testing will produce dynamic changes in acylcarnitin ... Full text Open Access Link to item Cite

A host gene expression approach for identifying triggers of asthma exacerbations.

Journal Article PLoS One · 2019 RATIONALE: Asthma exacerbations often occur due to infectious triggers, but determining whether infection is present and whether it is bacterial or viral remains clinically challenging. A diagnostic strategy that clarifies these uncertainties could enable ... Full text Open Access Link to item Cite

Overview: Genomic and precision medicine for infectious and inflammatory disease

Chapter · January 1, 2019 A century of advances in infectious disease diagnosis, treatment, and prevention changed the face of medicine and global health. However, challenges persist including high mortality from sepsis, emerging antimicrobial resistance, and globalization that inc ... Full text Cite

Genomic and precision medicine: Infectious and inflammatory disease

Book · January 1, 2019 Genomic and Precision Medicine: Infectious and Inflammatory Disease, Third Edition, provides current clinical solutions on the application of genome discovery on a broad spectrum of disease categories in IMD - including asthma, obesity and multiple scleros ... Full text Cite

A crowdsourced analysis to identify ab initio molecular signatures predictive of susceptibility to viral infection.

Journal Article Nat Commun · October 24, 2018 The response to respiratory viruses varies substantially between individuals, and there are currently no known molecular predictors from the early stages of infection. Here we conduct a community-based analysis to determine whether pre- or early post-expos ... Full text Open Access Link to item Cite

RAB11FIP5 Expression and Altered Natural Killer Cell Function Are Associated with Induction of HIV Broadly Neutralizing Antibody Responses.

Journal Article Cell · October 4, 2018 HIV-1 broadly neutralizing antibodies (bnAbs) are difficult to induce with vaccines but are generated in ∼50% of HIV-1-infected individuals. Understanding the molecular mechanisms of host control of bnAb induction is critical to vaccine design. Here, we pe ... Full text Link to item Cite

A note from the editors.

Journal Article Per Med · July 1, 2018 Full text Link to item Cite

Unsupervised Analysis of Transcriptomics in Bacterial Sepsis Across Multiple Datasets Reveals Three Robust Clusters.

Journal Article Crit Care Med · June 2018 OBJECTIVES: To find and validate generalizable sepsis subtypes using data-driven clustering. DESIGN: We used advanced informatics techniques to pool data from 14 bacterial sepsis transcriptomic datasets from eight different countries (n = 700). SETTING: Re ... Full text Link to item Cite

Insurance Coverage Policies for Pharmacogenomic and Multi-Gene Testing for Cancer.

Journal Article J Pers Med · May 16, 2018 Insurance coverage policies are a major determinant of patient access to genomic tests. The objective of this study was to examine differences in coverage policies for guideline-recommended pharmacogenomic tests that inform cancer treatment. We analyzed co ... Full text Link to item Cite

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects.

Journal Article Clin Pharmacol Ther · May 2018 Response to a drug often differs widely among individual patients. This variability is frequently observed not only with respect to effective responses but also with adverse drug reactions. Matching patients to the drugs that are most likely to be effectiv ... Full text Link to item Cite

Precision Medicine: From Science To Value.

Journal Article Health Aff (Millwood) · May 2018 Precision medicine is making an impact on patients, health care delivery systems, and research participants in ways that were only imagined fifteen years ago when the human genome was first sequenced. Discovery of disease-causing and drug-response genetic ... Full text Link to item Cite

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.

Journal Article Genet Med · April 2018 Genomic technologies should demonstrate analytical and clinical validity and clinical utility prior to wider adoption in clinical practice. However, the question of clinical utility remains unanswered for many genomic technologies. In this paper, we propos ... Full text Link to item Cite

A community approach to mortality prediction in sepsis via gene expression analysis.

Journal Article Nat Commun · February 15, 2018 Improved risk stratification and prognosis prediction in sepsis is a critical unmet need. Clinical severity scores and available assays such as blood lactate reflect global illness severity with suboptimal performance, and do not specifically reveal the un ... Full text Open Access Link to item Cite

Immune System Dysregulation During Spaceflight: Potential Countermeasures for Deep Space Exploration Missions.

Journal Article Front Immunol · 2018 Recent studies have established that dysregulation of the human immune system and the reactivation of latent herpesviruses persists for the duration of a 6-month orbital spaceflight. It appears certain aspects of adaptive immunity are dysregulated during f ... Full text Link to item Cite

A miRNA Host Response Signature Accurately Discriminates Acute Respiratory Infection Etiologies.

Journal Article Front Microbiol · 2018 Background: Acute respiratory infections (ARIs) are the leading indication for antibacterial prescriptions despite a viral etiology in the majority of cases. The lack of available diagnostics to discriminate viral and bacterial etiologies contributes to th ... Full text Open Access Link to item Cite

Foundations and application of precision medicine

Chapter · January 1, 2018 The goal of precision medicine is to optimize disease prevention, diagnosis, and treatment decision-making through the assimilation and analysis of multiple types of data including both genotypic (DNA variation) and phenotypic measures (traditional clinica ... Full text Cite

Genomic and precision medicine: Cardiovascular disease: Third edition

Book · November 13, 2017 Genomic and Precision Medicine: Cardiovascular Disease, Third Edition, focuses on the applications of genome discovery on the broad spectrum of cardiovascular disorders. Each chapter is organized for the application of genomics and personalized medicine to ... Cite

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.

Journal Article Genet Med · October 2017 Comparative effectiveness research (CER) in genomic medicine (GM) measures the clinical utility of using genomic information to guide clinical care in comparison to appropriate alternatives. We summarized findings of high-quality systematic reviews that co ... Full text Open Access Link to item Cite

RESPONSE: Training in Precision Cardiology The Time Is Now

Journal Article JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY · September 26, 2017 Link to item Cite

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

Journal Article BMC Med Genomics · May 22, 2017 BACKGROUND: To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthesize data on challenges identified b ... Full text Open Access Link to item Cite

Integrative health care services utilization as a function of body mass index: A BraveNet practice-based research network study

Journal Article Advances in Integrative Medicine · April 1, 2017 Background Obesity is a significant public health issue with no consensus regarding optimal medical management. Integrative medicine (IM) may help to fill this gap. Objectives (1) To characterize the sociodemographics, psychosocial functioning, health beha ... Full text Cite

Preface

Book · March 23, 2017 Full text Cite

Nasopharyngeal Protein Biomarkers of Acute Respiratory Virus Infection.

Journal Article EBioMedicine · March 2017 Infection of respiratory mucosa with viral pathogens triggers complex immunologic events in the affected host. We sought to characterize this response through proteomic analysis of nasopharyngeal lavage in human subjects experimentally challenged with infl ... Full text Open Access Link to item Cite

Primary care providers' use of pharmacist support for delivery of pharmacogenetic testing.

Journal Article Pharmacogenomics · March 2017 AIM: To investigate provider utilization of pharmacist support in the delivery of pharmacogenetic testing in a primary care setting. METHODS: Two primary care clinics within Duke University Health System participated in the study between December 2012 and ... Full text Link to item Cite

Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes.

Journal Article J Genet Couns · February 2017 Family health history (FHH) in the context of risk assessment has been shown to positively impact risk perception and behavior change. The added value of genetic risk testing is less certain. The aim of this study was to determine the impact of Type 2 Diab ... Full text Open Access Link to item Cite

An age- and sex-specific gene expression score is associated with revascularization and coronary artery disease: Insights from the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial.

Journal Article Am Heart J · February 2017 BACKGROUND: Identifying predictors of coronary artery disease (CAD)-related procedures and events remains a priority. METHODS: We measured an age- and sex-specific gene expression score (ASGES) previously validated to detect obstructive CAD (oCAD) in sympt ... Full text Link to item Cite

The effective rate of influenza reassortment is limited during human infection.

Journal Article PLoS Pathog · February 2017 We characterise the evolutionary dynamics of influenza infection described by viral sequence data collected from two challenge studies conducted in human hosts. Viral sequence data were collected at regular intervals from infected hosts. Changes in the seq ... Full text Link to item Cite

Local and Global Challenges in the Clinical Implementation of Precision Medicine

Chapter · January 1, 2017 Advances in high-throughput genomic technologies and the growing number of clinically useful results have driven novel implementation programs in many nations around the globe. These efforts capitalize on unique local capabilities arising from the structur ... Full text Cite

Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans.

Journal Article PLoS One · 2017 We previously showed that chromosome 8 of A/J mice was associated with susceptibility to S. aureus infection. However, the specific genes responsible for this susceptibility are unknown. Chromosome substitution strain 8 (CSS8) mice, which have chromosome 8 ... Full text Open Access Link to item Cite

NMR Lipoprotein Profiling Identifies HDL Subclasses Associated With Obstructive CAD: Insights From the PROMISE Clinical Trial

Conference · 2017 Introduction: In patients at high CV risk, the molar sum of concentrations of small and medium HDL subclasses (HMSP) has significant protective associations with CV outcomes, and outperforms HDL cholesterol for risk prediction. The association of HMSP with ... Cite

High Sensitivity Troponin I Measurement in Symptomatic Outpatients With Suspected Coronary Artery Disease: Results From the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) Study

Conference · 2017 Introduction: Higher concentrations of troponin (Tn) I are associated with prevalent coronary artery disease (CAD) in patients with myocardial infarction. The meaning of TnI concentrations in less acute patients is not well-understood.Hypothesis: Among sym ... Cite

Deep Sequencing of Influenza A Virus from a Human Challenge Study Reveals a Selective Bottleneck and Only Limited Intrahost Genetic Diversification.

Journal Article J Virol · December 15, 2016 UNLABELLED: Knowledge of influenza virus evolution at the point of transmission and at the intrahost level remains limited, particularly for human hosts. Here, we analyze a unique viral data set of next-generation sequencing (NGS) samples generated from a ... Full text Link to item Cite

Genomic and Precision Medicine: Foundations, Translation, and Implementation: Third Edition

Book · December 15, 2016 Genomic and Precision Medicine: Translation and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The ... Cite

Clinical utility of a Web-enabled risk-assessment and clinical decision support program.

Journal Article Genet Med · October 2016 PURPOSE: Risk-stratified guidelines can improve quality of care and cost-effectiveness, but their uptake in primary care has been limited. MeTree, a Web-based, patient-facing risk-assessment and clinical decision support tool, is designed to facilitate upt ... Full text Open Access Link to item Cite

Patient experiences with pharmacogenetic testing in a primary care setting.

Journal Article Pharmacogenomics · October 2016 AIM: To investigate patient experiences with pharmacogenetic (PGx) testing. METHODS: Patients were offered PGx testing through a study on pharmacist-assisted delivery of PGx testing and invited to complete pre- and post-testing surveys about their experien ... Full text Link to item Cite

Systems Pharmacogenomics Finds RUNX1 Is an Aspirin-Responsive Transcription Factor Linked to Cardiovascular Disease and Colon Cancer.

Journal Article EBioMedicine · September 2016 Aspirin prevents cardiovascular disease and colon cancer; however aspirin's inhibition of platelet COX-1 only partially explains its diverse effects. We previously identified an aspirin response signature (ARS) in blood consisting of 62 co-expressed transc ... Full text Link to item Cite

Clinical implementation of genomic medicine: the importance of global collaboration

Journal Article Expert Review of Precision Medicine and Drug Development · July 3, 2016 Full text Cite

Transcriptomic Analysis of the Host Response and Innate Resilience to Enterotoxigenic Escherichia coli Infection in Humans.

Journal Article J Infect Dis · May 1, 2016 BACKGROUND: Enterotoxigenic Escherichia coli (ETEC) is a globally prevalent cause of diarrhea. Though usually self-limited, it can be severe and debilitating. Little is known about the host transcriptional response to infection. We report the first gene ex ... Full text Open Access Link to item Cite

Differential evolution of peripheral cytokine levels in symptomatic and asymptomatic responses to experimental influenza virus challenge.

Journal Article Clin Exp Immunol · March 2016 Exposure to influenza virus triggers a complex cascade of events in the human host. In order to understand more clearly the evolution of this intricate response over time, human volunteers were inoculated with influenza A/Wisconsin/67/2005 (H3N2), and then ... Full text Link to item Cite

Potential Cost-effectiveness of Early Identification of Hospital-acquired Infection in Critically Ill Patients.

Journal Article Ann Am Thorac Soc · March 2016 RATIONALE: Limitations in methods for the rapid diagnosis of hospital-acquired infections often delay initiation of effective antimicrobial therapy. New diagnostic approaches offer potential clinical and cost-related improvements in the management of these ... Full text Open Access Link to item Cite

An individualized predictor of health and disease using paired reference and target samples.

Journal Article BMC Bioinformatics · January 22, 2016 BACKGROUND: Consider the problem of designing a panel of complex biomarkers to predict a patient's health or disease state when one can pair his or her current test sample, called a target sample, with the patient's previously acquired healthy sample, call ... Full text Link to item Cite

Host gene expression classifiers diagnose acute respiratory illness etiology.

Journal Article Sci Transl Med · January 20, 2016 Acute respiratory infections caused by bacterial or viral pathogens are among the most common reasons for seeking medical care. Despite improvements in pathogen-based diagnostics, most patients receive inappropriate antibiotics. Host response biomarkers of ... Full text Open Access Link to item Cite

Opportunities for the Cardiovascular Community in the Precision Medicine Initiative.

Journal Article Circulation · January 12, 2016 The Precision Medicine Initiative recently announced by President Barack Obama seeks to move the field of precision medicine more rapidly into clinical care. Precision medicine revolves around the concept of integrating individual-level data including geno ... Full text Link to item Cite

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

Journal Article BMC Med Genomics · January 5, 2016 BACKGROUND: Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist t ... Full text Open Access Link to item Cite

A Genomic Signature of Influenza Infection Shows Potential for Presymptomatic Detection, Guiding Early Therapy, and Monitoring Clinical Responses.

Journal Article Open Forum Infect Dis · January 2016 Early, presymptomatic intervention with oseltamivir (corresponding to the onset of a published host-based genomic signature of influenza infection) resulted in decreased overall influenza symptoms (aggregate symptom scores of 23.5 vs 46.3), more rapid reso ... Full text Open Access Link to item Cite

Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.

Journal Article Implement Sci · November 24, 2015 BACKGROUND: Risk assessment with a thorough family health history is recommended by numerous organizations and is now a required component of the annual physical for Medicare beneficiaries under the Affordable Care Act. However, there are several barriers ... Full text Open Access Link to item Cite

Does Type 2 Diabetes Genetic Testing and Counseling Reduce Modifiable Risk Factors? A Randomized Controlled Trial of Veterans.

Journal Article J Gen Intern Med · November 2015 OBJECTIVE: We examined the clinical utility of supplementing type 2 diabetes mellitus (DM) risk counseling with DM genetic test results and counseling. RESEARCH DESIGN AND METHODS: In this randomized controlled trial, non-diabetic overweight/obese veteran ... Full text Link to item Cite

A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience.

Journal Article J Cardiovasc Transl Res · November 2015 The CATHeterization GENetics (CATHGEN) biorepository was assembled in four phases. First, project start-up began in 2000. Second, between 2001 and 2010, we collected clinical data and biological samples from 9334 individuals undergoing cardiac catheterizat ... Full text Link to item Cite

In Pursuit of Sleep-Circadian Biomarkers.

Journal Article Sleep · November 1, 2015 Full text Link to item Cite

Renal systems biology of patients with systemic inflammatory response syndrome.

Journal Article Kidney Int · October 2015 A systems biology approach was used to comprehensively examine the impact of renal disease and hemodialysis (HD) on patient response during critical illness. To achieve this, we examined the metabolome, proteome, and transcriptome of 150 patients with crit ... Full text Open Access Link to item Cite

Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.

Journal Article Kidney Int · October 2015 Acute kidney injury (AKI) is a common, serious complication of cardiac surgery. Since prior studies have supported a genetic basis for postoperative AKI, we conducted a genome-wide association study (GWAS) for AKI following coronary bypass graft (CABG) sur ... Full text Open Access Link to item Cite

Gene Expression Signatures and the Spectrum of Coronary Artery Disease.

Journal Article J Cardiovasc Transl Res · August 2015 Over the past 10-15 years, developments in gene expression profiling have opened new arenas for the discovery of important factors in the pathogenesis of numerous disease processes, including coronary artery disease. Messenger RNA and microRNA are differen ... Full text Link to item Cite

Global implementation of genomic medicine: We are not alone.

Journal Article Sci Transl Med · June 3, 2015 Featured Publication Around the world, innovative genomic-medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens. Such individual efforts might benefit fr ... Full text Link to item Cite

Aligning incentives to fulfil the promise of personalised medicine.

Journal Article Lancet · May 23, 2015 Featured Publication Full text Link to item Cite

Perspectives on genetic and genomic technologies in an academic medical center: the duke experience.

Journal Article J Pers Med · April 3, 2015 UNLABELLED: In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. METHODS: We surveyed Duke faculty and health ... Full text Open Access Link to item Cite

Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance.

Journal Article J Genet Couns · February 2015 Several barriers inhibit collection and use of detailed family health history (FHH) in primary care. MeTree, a computer-based FHH intake and risk assessment tool with clinical decision support, was developed to overcome these barriers. Here, we describe th ... Full text Link to item Cite

Patient beliefs and behaviors about genomic risk for type 2 diabetes: implications for prevention.

Journal Article J Health Commun · 2015 Type 2 diabetes is a major health burden in the United States, and population trends suggest this burden will increase. High interest in, and increased availability of, testing for genetic risk of type 2 diabetes presents a new opportunity for reducing typ ... Full text Open Access Link to item Cite

SLCO1B1 genetic variants, long-term low-density lipoprotein cholesterol levels and clinical events in patients following cardiac catheterization.

Journal Article Pharmacogenomics · 2015 AIM: SLCO1B1 variants are associated with intermediate outcomes that may increase risk of death/myocardial infarction (MI) in statin-treated patients. PATIENTS & METHODS: In high-risk Caucasians undergoing cardiac catheterization, we tested the association ... Full text Link to item Cite

What was old is new again: using the host response to diagnose infectious disease.

Journal Article Expert Rev Mol Diagn · 2015 A century of advances in infectious disease diagnosis and treatment changed the face of medicine. However, challenges continue to develop including multi-drug resistance, globalization that increases pandemic risks and high mortality from severe infections ... Full text Link to item Cite

Gene Expression Profiles Link Respiratory Viral Infection, Platelet Response to Aspirin, and Acute Myocardial Infarction.

Journal Article PLoS One · 2015 BACKGROUND: Influenza infection is associated with myocardial infarction (MI), suggesting that respiratory viral infection may induce biologic pathways that contribute to MI. We tested the hypotheses that 1) a validated blood gene expression signature of r ... Full text Open Access Link to item Cite

Perceptions of Personalized Medicine in an Academic Health System: Educational Findings.

Journal Article J Contemp Med Educ · 2015 OBJECTIVE: Prior reports demonstrate that personalized medicine implementation in clinical care is lacking. Given the program focus at Duke University on personalized medicine, we assessed health care providers' perspectives on their preparation and educat ... Full text Open Access Link to item Cite

Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable.

Journal Article Ann Fam Med · 2015 Genomic research has generated much new knowledge into mechanisms of human disease, with the potential to catalyze novel drug discovery and development, prenatal and neonatal screening, clinical pharmacogenomics, more sensitive risk prediction, and enhance ... Full text Link to item Cite

Multiplex DNA biosensor for viral infection diagnosis using SERS molecular sentinel-on-chip

Conference Ifmbe Proceedings · January 1, 2015 The development of sensitive and selective techniques for multiplex detection of DNA biomarkers is paramount for clinical diagnosis. Various multiplex DNA detection techniques have been reported. However, most of these techniques require multiple incubatio ... Full text Cite

G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers.

Other Circ Cardiovasc Genet · October 2014 BACKGROUND: We hypothesized that genetic variations in the adrenergic signaling pathway and cytochrome P450 2D6 enzyme are associated with new-onset atrial fibrillation (AF) in patients who underwent coronary artery bypass grafting and were treated with pe ... Full text Link to item Cite

The current epidemiology and clinical decisions surrounding acute respiratory infections.

Journal Article Trends Mol Med · October 2014 Acute respiratory infection (ARI) is a common diagnosis in outpatient and emergent care settings. Currently available diagnostics are limited, creating uncertainty in the use of antibacterial, antiviral, or supportive care. Up to 72% of ambulatory care pat ... Full text Link to item Cite

Pilot study of pharmacist-assisted delivery of pharmacogenetic testing in a primary care setting.

Journal Article Pharmacogenomics · September 2014 AIM: To describe the rationale and design of a pilot program to implement and evaluate pharmacogenetic (PGx) testing in a primary care setting. STUDY RATIONALE: Several factors have impeded the uptake of PGx testing, including lack of provider knowledge an ... Full text Link to item Cite

Comparing reference-based RNA-Seq mapping methods for non-human primate data.

Journal Article BMC Genomics · July 7, 2014 Featured Publication BACKGROUND: The application of next-generation sequencing technology to gene expression quantification analysis, namely, RNA-Sequencing, has transformed the way in which gene expression studies are conducted and analyzed. These advances are of particular i ... Full text Link to item Cite

Tumor acquisition for biomarker research in lung cancer.

Journal Article Cancer Invest · July 2014 The biopsy collection data from two lung cancer trials that required fresh tumor samples be obtained for microarray analysis were reviewed. In the trial for advanced disease, microarray data were obtained on 50 patient samples, giving an overall success ra ... Full text Link to item Cite

Providing patient education: impact on quantity and quality of family health history collection.

Journal Article Fam Cancer · June 2014 BACKGROUND: Family health history (FHH) is an underutilized tool in primary care to identify and risk-stratify individuals with increased cancer risk. OBJECTIVE: Evaluate the influence of patient education on quantity and quality of FHH entered into a prim ... Full text Link to item Cite

Development of a novel preclinical model of pneumococcal pneumonia in nonhuman primates.

Journal Article Am J Respir Cell Mol Biol · May 2014 Featured Publication Pneumococcal pneumonia is a leading cause of bacterial infection and death worldwide. Current diagnostic tests for detecting Streptococcus pneumoniae can be unreliable and can mislead clinical decision-making and treatment. To address this concern, we deve ... Full text Link to item Cite

Multiplex detection of disease biomarkers using SERS molecular sentinel-on-chip.

Journal Article Anal Bioanal Chem · May 2014 Featured Publication Developing techniques for multiplex detection of disease biomarkers is important for clinical diagnosis. In this work, we have demonstrated for the first time the feasibility of multiplex detection of genetic disease biomarkers using the surface-enhanced R ... Full text Link to item Cite

Medical genomics: Gather and use genetic data in health care.

Journal Article Nature · April 24, 2014 Featured Publication Full text Link to item Cite

Preoperative CYP2D6 metabolism-dependent β-blocker use and mortality after coronary artery bypass grafting surgery.

Journal Article J Thorac Cardiovasc Surg · April 2014 OBJECTIVE: Recently, the role of β-blockers (BBs) in reducing perioperative mortality has been challenged. The conflicting results might have resulted from the extent of BB metabolism by the cytochrome P-450 (CYP2D6) isoenzyme. The purpose of the present s ... Full text Open Access Link to item Cite

Genetically guided statin therapy on statin perceptions, adherence, and cholesterol lowering: a pilot implementation study in primary care patients.

Journal Article J Pers Med · March 27, 2014 Statin adherence is often limited by side effects. The SLCO1B1*5 variant is a risk factor for statin side effects and exhibits statin-specific effects: highest with simvastatin/atorvastatin and lowest with pravastatin/rosuvastatin. The effects of SLCO1B1*5 ... Full text Link to item Cite

A novel diagnostic approach may reduce inappropriate antibiotic use for acute respiratory infections.

Journal Article Expert Rev Anti Infect Ther · March 2014 Respiratory infections can be due to a multitude of etiologies and are common throughout the world. Most are viral and self-limited, yet these infections are commonly treated with antibiotics thus contributing to the increase in resistance. Historically, i ... Full text Link to item Cite

Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand.

Journal Article Am J Med Genet C Semin Med Genet · March 2014 UNLABELLED: The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk-stratified evidence-based prevention guidelines using MeTree, a patient-facing family health hist ... Full text Link to item Cite

Quality of family history collection with use of a patient facing family history assessment tool.

Journal Article BMC Fam Pract · February 13, 2014 BACKGROUND: Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a ... Full text Link to item Cite

Impact of delivery models on understanding genomic risk for type 2 diabetes.

Journal Article Public Health Genomics · 2014 BACKGROUND: Genetic information, typically communicated in-person by genetic counselors, can be challenging to comprehend; delivery of this information online--as is becoming more common--has the potential of increasing these challenges. METHODS: To addres ... Full text Link to item Cite

Bayesian modeling of temporal properties of infectious disease in a college student population

Journal Article Journal of Applied Statistics · January 1, 2014 A Bayesian statistical model is developed for analysis of the time-evolving properties of infectious disease, with a particular focus on viruses. The model employs a latent semi-Markovian state process, and the state-transition statistics are driven by thr ... Full text Cite

Quality of family history collection with use of a patient facing family history assessment tool

Journal Article BMC Family Practice · 2014 Background: Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a ... Full text Cite

An integrated transcriptome and expressed variant analysis of sepsis survival and death.

Journal Article Genome Med · 2014 Featured Publication BACKGROUND: Sepsis, a leading cause of morbidity and mortality, is not a homogeneous disease but rather a syndrome encompassing many heterogeneous pathophysiologies. Patient factors including genetics predispose to poor outcomes, though current clinical ch ... Full text Open Access Link to item Cite

Longitudinal analysis of leukocyte differentials in peripheral blood of patients with acute respiratory viral infections.

Journal Article J Clin Virol · December 2013 BACKGROUND: Leukocyte counts and differentials are commonly acquired in patients with suspected respiratory viral infections and may contribute diagnostic information. However, most published work is limited to a single timepoint at initial presentation to ... Full text Link to item Cite

Aspirin exposure reveals novel genes associated with platelet function and cardiovascular events.

Journal Article J Am Coll Cardiol · October 1, 2013 Featured Publication OBJECTIVES: The aim of this study was to develop ribonucleic acid (RNA) profiles that could serve as novel biomarkers for the response to aspirin. BACKGROUND: Aspirin reduces death and myocardial infarction (MI), suggesting that aspirin interacts with biol ... Full text Link to item Cite

A host-based RT-PCR gene expression signature to identify acute respiratory viral infection.

Journal Article Sci Transl Med · September 18, 2013 Featured Publication Improved ways to diagnose acute respiratory viral infections could decrease inappropriate antibacterial use and serve as a vital triage mechanism in the event of a potential viral pandemic. Measurement of the host response to infection is an alternative to ... Full text Link to item Cite

Implementing Genomic Medicine in the Clinic: The Future Is Here EDITORIAL COMMENT

Journal Article OBSTETRICAL & GYNECOLOGICAL SURVEY · September 1, 2013 Link to item Cite

Genomic and Personalized Medicine

Journal Article Genomic and Personalized Medicine · August 26, 2013 With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elab ... Cite

Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial.

Journal Article BMC Fam Pract · August 6, 2013 BACKGROUND: Family health history (FHH) is the single strongest predictor of disease risk and yet is significantly underutilized in primary care. We developed a patient facing FHH collection tool, MeTree, that uses risk stratification to generate clinical ... Full text Link to item Cite

Clinical utility of genetic risk testing in primary care: the example of Type 2 diabetes.

Journal Article Per Med · August 2013 Genetic advances in Type 2 diabetes (T2D) have led to the discovery and validation of multiple markers for this complex disease. Despite low predictive value of current T2D markers beyond clinical risk factors and family history, researchers are exploring ... Full text Link to item Cite

An integrated clinico-metabolomic model improves prediction of death in sepsis.

Journal Article Sci Transl Med · July 24, 2013 Featured Publication Sepsis is a common cause of death, but outcomes in individual patients are difficult to predict. Elucidating the molecular processes that differ between sepsis patients who survive and those who die may permit more appropriate treatments to be deployed. We ... Full text Link to item Cite

Surface-enhanced Raman scattering molecular sentinel nanoprobes for viral infection diagnostics.

Journal Article Anal Chim Acta · July 5, 2013 Featured Publication In this paper, we describe a surface-enhanced Raman scattering (SERS)-based detection approach, referred to as "molecular sentinel" (MS) plasmonic nanoprobes, to detect an RNA target related to viral infection. The MS method is essentially a label-free tec ... Full text Link to item Cite

Comparative effectiveness research in cancer genomics and precision medicine: current landscape and future prospects.

Journal Article J Natl Cancer Inst · July 3, 2013 A major promise of genomic research is information that can transform health care and public health through earlier diagnosis, more effective prevention and treatment of disease, and avoidance of drug side effects. Although there is interest in the early a ... Full text Link to item Cite

Genomic medicine: a decade of successes, challenges, and opportunities.

Journal Article Sci Transl Med · June 12, 2013 Genomic medicine--an aspirational term 10 years ago--is gaining momentum across the entire clinical continuum from risk assessment in healthy individuals to genome-guided treatment in patients with complex diseases. We review the latest achievements in gen ... Full text Link to item Cite

Latent protein trees

Journal Article Annals of Applied Statistics · June 1, 2013 Unbiased, label-free proteomics is becoming a powerful technique for measuring protein expression in almost any biological sample. The output of these measurements after preprocessing is a collection of features and their associated intensities for each sa ... Full text Open Access Cite

The Impact of Personalized Medicine

Journal Article SCIENTIST · June 1, 2013 Link to item Cite

Health coaching and genomics-potential avenues to elicit behavior change in those at risk for chronic disease: protocol for personalized medicine effectiveness study in air force primary care.

Journal Article Glob Adv Health Med · May 2013 BACKGROUND: Type 2 diabetes (T2D) and coronary heart disease (CHD) are prevalent chronic diseases from which military personnel are not exempt. While many genetic markers for these diseases have been identified, the clinical utility of genetic risk testing ... Full text Link to item Cite

The genomic medicine model: an integrated approach to implementation of family health history in primary care.

Journal Article Per Med · May 2013 As an essential tool for risk stratification, family health history (FHH) is a central component of personalized medicine; yet, despite its widespread acceptance among professional societies and its established place in the medical interview, its widesprea ... Full text Link to item Cite

Realizing the opportunities of genomics in health care.

Journal Article JAMA · April 10, 2013 Featured Publication Full text Link to item Cite

Public knowledge of and attitudes toward genetics and genetic testing.

Journal Article Genet Test Mol Biomarkers · April 2013 BACKGROUND: Variable health literacy and genetic knowledge may pose significant challenges to engaging the general public in personal genomics, specifically with respect to promoting risk comprehension and healthy behaviors. METHODS: We are conducting a mu ... Full text Link to item Cite

Implementing genomic medicine in the clinic: the future is here.

Journal Article Genet Med · April 2013 Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently b ... Full text Link to item Cite

Transforming epidemiology for 21st century medicine and public health.

Journal Article Cancer Epidemiol Biomarkers Prev · April 2013 Featured Publication In 2012, the National Cancer Institute (NCI) engaged the scientific community to provide a vision for cancer epidemiology in the 21st century. Eight overarching thematic recommendations, with proposed corresponding actions for consideration by funding agen ... Full text Link to item Cite

Unsupervised Bayesian linear unmixing of gene expression microarrays.

Journal Article BMC Bioinformatics · March 19, 2013 BACKGROUND: This paper introduces a new constrained model and the corresponding algorithm, called unsupervised Bayesian linear unmixing (uBLU), to identify biological signatures from high dimensional assays like gene expression microarrays. The basis for u ... Full text Link to item Cite

Personalized medicine in women's obesity prevention and treatment: implications for research, policy and practice.

Journal Article Obes Rev · February 2013 The prevalence of obesity in America has reached epidemic proportions, and obesity among women is particularly concerning. Severe obesity (body mass index ≥35 kg m(-2) ) is more prevalent in women than men. Further, women have sex-specific risk factors tha ... Full text Link to item Cite

Primary care physicians' knowledge of and experience with pharmacogenetic testing

Journal Article Obstetrical and Gynecological Survey · February 1, 2013 Full text Cite

Collection of family health history for assessment of chronic disease risk in primary care.

Journal Article N C Med J · 2013 BACKGROUND: Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in pr ... Link to item Cite

Patient clustering with uncoded text in electronic medical records.

Journal Article AMIA Annu Symp Proc · 2013 Featured Publication We propose a mixture model for text data designed to capture underlying structure in the history of present illness section of electronic medical records data. Additionally, we propose a method to induce bias that leads to more homogeneous sets of diagnose ... Link to item Cite

Pneumococcal Pneumonia And Sepsis In Baboons Mirrors The Human Disease

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2013 Link to item Cite

Preface

Chapter · 2013 Cite

A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2.

Journal Article PLoS One · 2013 There is great potential for host-based gene expression analysis to impact the early diagnosis of infectious diseases. In particular, the influenza pandemic of 2009 highlighted the challenges and limitations of traditional pathogen-based testing for suspec ... Full text Open Access Link to item Cite

Gene expression-based classifiers identify Staphylococcus aureus infection in mice and humans.

Journal Article PLoS One · 2013 Staphylococcus aureus causes a spectrum of human infection. Diagnostic delays and uncertainty lead to treatment delays and inappropriate antibiotic use. A growing literature suggests the host's inflammatory response to the pathogen represents a potential t ... Full text Open Access Link to item Cite

Development and validation of a primary care-based family health history and decision support program (MeTree).

Journal Article N C Med J · 2013 Featured Publication INTRODUCTION: Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to ... Link to item Cite

Implementing genomic medicine in the clinic: The future is here

Journal Article Obstetrical and Gynecological Survey · 2013 Full text Cite

Abstract P2-10-03: A cross-platform comparison of genomic signatures and OncotypeDx score to discover potential prognostic/predictive genes and pathways

Journal Article Cancer Research · December 15, 2012 AbstractBackground: Microarray assessment of breast cancer demonstrates disease subsets among the major breast cancer biologic categories (ER, PR, HER-2) with likely additional prognostic and treatment (pred ... Full text Cite

Abstract P3-06-07: Ki67 as a Predictive Marker of Response to Neoadjuvant Chemotherapy in Patients with Early-Stage Breast Cancer (ESBC): A Systematic Review and Evidence Summary

Journal Article Cancer Research · December 15, 2012 AbstractBackground: Immunohistochemical (IHC) assessment of the proportion of cells staining for the KI67 nuclear antigen is being increasing utilized in the management of patients with early-stage breast ca ... Full text Cite

Comparative effectiveness research, genomics-enabled personalized medicine, and rapid learning health care: a common bond.

Journal Article J Clin Oncol · December 1, 2012 Featured Publication Despite stunning advances in our understanding of the genetics and the molecular basis for cancer, many patients with cancer are not yet receiving therapy tailored specifically to their tumor biology. The translation of these advances into clinical practic ... Full text Link to item Cite

Clinical Implementation of Genomic Medicine in Primary Care

Chapter · November 15, 2012 This two-volume set provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. ... Cite

Sepsis

Chapter · November 15, 2012 Full text Cite

Genomic and Personalized Medicine

Book · November 15, 2012 Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical ... Cite

The host response to infection: advancing a novel diagnostic paradigm.

Journal Article Crit Care · November 6, 2012 Capturing the host response by using genomic technologies such as transcriptional profiling provides a new paradigm for classifying and diagnosing infectious disease and for potentially distinguishing infection from other causes of serious respiratory illn ... Full text Link to item Cite

Primary care physicians' knowledge of and experience with pharmacogenetic testing.

Journal Article Clin Genet · October 2012 It is anticipated that as the range of drugs for which pharmacogenetic testing becomes available expands, primary care physicians (PCPs) will become major users of these tests. To assess their training, familiarity, and attitudes toward pharmacogenetic tes ... Full text Link to item Cite

Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial.

Journal Article Trials · August 1, 2012 BACKGROUND: We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM) on psychological, health behavior, and clinical ... Full text Link to item Cite

Genetic testing: clinical and personal utility.

Journal Article Virtual Mentor · August 1, 2012 Full text Link to item Cite

Clinical application of cardiovascular pharmacogenetics.

Journal Article J Am Coll Cardiol · July 3, 2012 Pharmacogenetics primarily uses genetic variation to identify subgroups of patients who may respond differently to a certain medication. Since its first description, the field of pharmacogenetics has expanded to study a broad range of cardiovascular drugs ... Full text Link to item Cite

Conference Scene: Is personalized medicine ready for prime time?

Journal Article Per Med · July 2012 This article provides a meeting report from the Duke Center for Personalized Medicine 2012 Symposium, which took place in Durham, NC, USA, on 29 March 2012. The event titled 'At the Interface of Clinical Research and Clinical Medicine', focused on many of ... Full text Link to item Cite

Hierarchical factor modeling of proteomics data

Journal Article 2012 IEEE 2nd International Conference on Computational Advances in Bio and Medical Sciences Iccabs 2012 · May 8, 2012 This paper presents a hierarchical bayesian factor model specifically designed to model the known correlation structure of both peptides and proteins in unbiased, label free proteomics. The model utilizes partial identification information from peptide seq ... Full text Cite

Time-dependent changes in non-COX-1-dependent platelet function with daily aspirin therapy.

Journal Article J Thromb Thrombolysis · April 2012 To develop an integrated metric of non-COX-1-dependent platelet function (NCDPF) to measure the temporal response to aspirin in healthy volunteers and diabetics. NCDPF on aspirin demonstrates wide variability, despite suppression of COX-1. Although a varie ... Full text Link to item Cite

Genome technologies and personalized dental medicine.

Journal Article Oral Dis · April 2012 The addition of genomic information to our understanding of oral disease is driving important changes in oral health care. It is anticipated that genome-derived information will promote a deeper understanding of disease etiology and permit earlier diagnosi ... Full text Link to item Cite

The oral microbiome in health and disease and the potential impact on personalized dental medicine.

Journal Article Oral Dis · March 2012 Featured Publication Every human body contains a personalized microbiome that is essential to maintaining health but capable of eliciting disease. The oral microbiome is particularly imperative to health because it can cause both oral and systemic disease. The oral microbiome ... Full text Link to item Cite

Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design.

Journal Article BMC Health Serv Res · January 18, 2012 BACKGROUND: Type 2 diabetes is a prevalent chronic condition globally that results in extensive morbidity, decreased quality of life, and increased health services utilization. Lifestyle changes can prevent the development of diabetes, but require patient ... Full text Open Access Link to item Cite

The MURDOCK Study: a long-term initiative for disease reclassification through advanced biomarker discovery and integration with electronic health records.

Journal Article Am J Transl Res · 2012 BACKGROUND: Facing critically low return per dollar invested on clinical research and clinical care, the American biomedical enterprise is in need of a significant transformation. A confluence of high-throughput "omic" technologies and increasing adoption ... Link to item Cite

The Measurement to Understand Reclassification of Disease of Cabarrus/Kannapolis (MURDOCK) Study Community Registry and Biorepository.

Journal Article Am J Transl Res · 2012 Current understanding of chronic diseases is based on crude clinical characterization, imaging studies, and laboratory testing that has evolved over decades. The Measurement to Understand Reclassification of Disease of Cabarrus/Kannapolis (MURDOCK) Study i ... Link to item Cite

P3-14-04: Assessment of Genomic Prognostic Signatures as Predictors of Response to Neoadjuvant Chemotherapy in Patients with Early Stage Breast Cancer.

Journal Article Cancer Research · December 15, 2011 AbstractBackground: Based on results from randomized clinical trials, adjuvant and neoadjuvant chemotherapy (NCT) strategies in early stage breast cancer patients (ESBC) achieve comparable long term results. ... Full text Cite

Whole blood gene expression analyses in patients with single versus recurrent venous thromboembolism.

Journal Article Thromb Res · December 2011 INTRODUCTION: Venous thromboembolism may recur in up to 30% of patients with a spontaneous venous thromboembolism after a standard course of anticoagulation. Identification of patients at risk for recurrent venous thromboembolism would facilitate decisions ... Full text Link to item Cite

Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system.

Journal Article BMC Health Serv Res · October 11, 2011 Featured Publication BACKGROUND: The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is ... Full text Open Access Link to item Cite

Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results.

Journal Article Genet Med · October 2011 PURPOSE: Pharmacogenetic testing is one of the primary drivers of personalized medicine. The use of pharmacogenetic testing may provide a lifetime of benefits through tailoring drug dosing and selection of multiple medications to improve therapeutic outcom ... Full text Link to item Cite

Academic medical centers: ripe for rapid-learning personalized health care.

Journal Article Sci Transl Med · September 21, 2011 Featured Publication In an attempt to reduce the lengthy process of translating scientific findings into clinical practice, the United States and several European governments are making substantial investments in health information technology, comparative effectiveness researc ... Full text Link to item Cite

Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling.

Journal Article J Gen Intern Med · August 2011 BACKGROUND: Genomic risk profiling involves the analysis of genetic variations linked through statistical associations to a range of disease states. There is considerable controversy as to how, and even whether, to incorporate these tests into routine medi ... Full text Link to item Cite

Temporal dynamics of host molecular responses differentiate symptomatic and asymptomatic influenza a infection.

Journal Article PLoS Genet · August 2011 Exposure to influenza viruses is necessary, but not sufficient, for healthy human hosts to develop symptomatic illness. The host response is an important determinant of disease progression. In order to delineate host molecular responses that differentiate ... Full text Open Access Link to item Cite

A hub for bench-to-bedside pharmacogenomic-based research.

Journal Article Pharmacogenomics · August 2011 In 2003 Duke University (Durham, NC, USA) launched the Institute for Genome Sciences & Policy (IGSP) as an interdisciplinary network of centers comprised of scientists, engineers and physicians, as well as experts in law, business, economics public policy ... Full text Link to item Cite

Discovery of biomarker candidates for coronary artery disease from an APOE-knock out mouse model using iTRAQ-based multiplex quantitative proteomics.

Journal Article Proteomics · July 2011 Due to the lack of precise markers indicative of its occurrence and progression, coronary artery disease (CAD), the most common type of heart diseases, is currently associated with high mortality in the United States. To systemically identify novel protein ... Full text Link to item Cite

High predictive accuracy of an unbiased proteomic profile for sustained virologic response in chronic hepatitis C patients.

Journal Article Hepatology · June 2011 UNLABELLED: Chronic hepatitis C (CHC) infection is a leading cause of endstage liver disease. Current standard-of-care (SOC) interferon-based therapy results in sustained virological response (SVR) in only one-half of patients, and is associated with signi ... Full text Link to item Cite

Quality appraisal of clinical validation studies for multigene prediction assays of chemotherapy response in early-stage breast cancer.

Journal Article J Clin Oncol · May 20, 2011 3082 Background: Despite enthusiasm concerning the potential for genomic predictors of chemotherapy response, considerable uncertainty about optimal research methodology remain. A comprehensive literature search and quality appraisal of multigene signature ... Link to item Cite

Development of a blood-based gene expression algorithm for assessment of obstructive coronary artery disease in non-diabetic patients.

Journal Article BMC Med Genomics · March 28, 2011 BACKGROUND: Alterations in gene expression in peripheral blood cells have been shown to be sensitive to the presence and extent of coronary artery disease (CAD). A non-invasive blood test that could reliably assess obstructive CAD likelihood would have dia ... Full text Open Access Link to item Cite

Detection of viruses via statistical gene expression analysis.

Journal Article IEEE Trans Biomed Eng · March 2011 We develop a new bayesian construction of the elastic net (ENet), with variational bayesian analysis. This modeling framework is motivated by analysis of gene expression data for viruses, with a focus on H3N2 and H1N1 influenza, as well as Rhino virus and ... Full text Link to item Cite

The Biomedical Resource Ontology (BRO) to enable resource discovery in clinical and translational research.

Journal Article J Biomed Inform · February 2011 The biomedical research community relies on a diverse set of resources, both within their own institutions and at other research centers. In addition, an increasing number of shared electronic resources have been developed. Without effective means to locat ... Full text Link to item Cite

H3N2 influenza infection elicits more cross-reactive and less clonally expanded anti-hemagglutinin antibodies than influenza vaccination.

Journal Article PLoS One · 2011 BACKGROUND: During the recent H1N1 influenza pandemic, excess morbidity and mortality was seen in young but not older adults suggesting that prior infection with influenza strains may have protected older subjects. In contrast, a history of recent seasonal ... Full text Open Access Link to item Cite

Predicting Viral Infection From High-Dimensional Biomarker Trajectories.

Journal Article J Am Stat Assoc · January 1, 2011 Featured Publication There is often interest in predicting an individual's latent health status based on high-dimensional biomarkers that vary over time. Motivated by time-course gene expression array data that we have collected in two influenza challenge studies performed wit ... Full text Link to item Cite

Order-preserving factor analysis-application to longitudinal gene expression

Journal Article IEEE Transactions on Signal Processing · January 1, 2011 We present a novel factor analysis method that can be applied to the discovery of common factors shared among trajectories in multivariate time series data. These factors satisfy a precedence-ordering property: certain factors are recruited only after some ... Full text Cite

Personalized medicine: progress and promise.

Journal Article Annu Rev Genomics Hum Genet · 2011 Featured Publication Personalized medicine is a broad and rapidly advancing field of health care that is informed by each person's unique clinical, genetic, genomic, and environmental information. Personalized medicine depends on multidisciplinary health care teams and integra ... Full text Link to item Cite

Order-preserving factor discovery from misaligned data

Journal Article 2010 IEEE Sensor Array and Multichannel Signal Processing Workshop SAM 2010 · December 20, 2010 We present a factor analysis method that accounts for possible temporal misalignment of the factor loadings across the population of samples. Our main hypothesis is that the data contains a subset of variables with similar but delayed profiles obeying a co ... Full text Cite

Translational Genomics. From Discovery to Clinical Practice.

Journal Article · December 1, 2010 This chapter focuses on paradigms for translational genomics that enables effective translation of human genome information to clinically relevant actions and outcomes. New knowledge from the study of genomes and their by-products permits the development o ... Full text Cite

The Foundations of Genomic and Personalized Medicine

Journal Article · December 1, 2010 This chapter presents the principles and applications underlying genomic and personalized medicine. Genomics is the scientific study of a genome or genomes. A genome is the complete DNA sequence containing the entire genetic information of a gamete, an ind ... Full text Cite

Essentials of Genomic and Personalized Medicine

Book · December 1, 2010 Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one o ... Cite

Cancer pharmacogenomics and pharmacoepidemiology: setting a research agenda to accelerate translation.

Journal Article J Natl Cancer Inst · November 17, 2010 Recent advances in genomic research have demonstrated a substantial role for genomic factors in predicting response to cancer therapies. Researchers in the fields of cancer pharmacogenomics and pharmacoepidemiology seek to understand why individuals respon ... Full text Link to item Cite

Bayesian inference of the number of factors in gene-expression analysis: application to human virus challenge studies.

Journal Article BMC Bioinformatics · November 9, 2010 BACKGROUND: Nonparametric Bayesian techniques have been developed recently to extend the sophistication of factor models, allowing one to infer the number of appropriate factors from the observed data. We consider such techniques for sparse factor analysis ... Full text Open Access Link to item Cite

Opening up to precompetitive collaboration.

Journal Article Sci Transl Med · October 6, 2010 Featured Publication In order to enhance biomedical research and development efficiency and innovation, nontraditional research collaborations have emerged that feature the sharing of information, resources, and capabilities. Although many of these so-called precompetitive col ... Full text Link to item Cite

A stick-breaking construction of the beta process

Journal Article Icml 2010 Proceedings 27th International Conference on Machine Learning · September 17, 2010 We present and derive a new stick-breaking construction of the beta process. The construction is closely related to a special case of the stick-breaking construction of the Dirich-let process (Sethuraman, 1994) applied to the beta distribution. We derive a ... Cite

Intratumor heterogeneity and precision of microarray-based predictors of breast cancer biology and clinical outcome.

Journal Article J Clin Oncol · May 1, 2010 PURPOSE: Identifying sources of variation in expression microarray data and the effect of variance in gene expression measurements on complex predictive and diagnostic models is essential when translating microarray-based experimental approaches into clini ... Full text Link to item Cite

Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.

Journal Article PLoS Genet · April 29, 2010 Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) is an emerging risk factor and therapeutic target for cardiovascular disease. The activity and mass of this enzyme are heritable traits, but major genetic determinants have not been explored in a system ... Full text Open Access Link to item Cite

Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events.

Journal Article Circ Cardiovasc Genet · April 2010 BACKGROUND: Molecular tools may provide insight into cardiovascular risk. We assessed whether metabolites discriminate coronary artery disease (CAD) and predict risk of cardiovascular events. METHODS AND RESULTS: We performed mass-spectrometry-based profil ... Full text Open Access Link to item Cite

Identifying patients at high risk of a cardiovascular event in the near future: current status and future directions: report of a national heart, lung, and blood institute working group.

Journal Article Circulation · March 30, 2010 The National Heart, Lung, and Blood Institute convened working group to provide basic and clinical research recommendations to the National Heart, Lung, and Blood Institute on the development of an integrated approach for identifying those individuals who ... Full text Link to item Cite

Blood gene expression signatures predict invasive candidiasis.

Journal Article Sci Transl Med · March 3, 2010 Candidemia is the fourth most common bloodstream infection, with Candida albicans being the most common causative species. Success in reducing the associated morbidity and mortality has been limited by the inadequacy and time delay of currently available d ... Full text Link to item Cite

Clinical presentation and response to treatment of novel influenza A H1N1 in a university-based summer camp population.

Journal Article J Clin Virol · March 2010 BACKGROUND: Little is known about the clinical presentation and course of novel H1N1 influenza in summer camps. OBJECTIVES: To describe the clinical course and evaluate the effect of influenza treatment in a summer camp population. STUDY DESIGN: Two large ... Full text Link to item Cite

Risk factors for and estimated incidence of community-associated Clostridium difficile infection, North Carolina, USA.

Journal Article Emerg Infect Dis · February 2010 We determined estimated incidence of and risk factors for community-associated Clostridium difficile infection (CA-CDI) among patients treated at 6 North Carolina hospitals. CA-CDI case-patients were defined as adults (>18 years of age) with a positive sto ... Full text Open Access Link to item Cite

Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study.

Journal Article BMC Med Genet · January 19, 2010 BACKGROUND: Several studies have noted that genetic variants of SCARB1, a lipoprotein receptor involved in reverse cholesterol transport, are associated with serum lipid levels in a sex-dependent fashion. However, the mechanism underlying this gene by sex ... Full text Open Access Link to item Cite

Genomic and personalized medicine: foundations and applications.

Journal Article Transl Res · December 2009 The last decade has witnessed a steady embrace of genomic and personalized medicine by senior government officials, industry leadership, health care providers, and the public. Genomic medicine, which is the use of information from genomes and their derivat ... Full text Link to item Cite

Pharmacogenetics of the response to statins

Journal Article Current Cardiovascular Risk Reports · December 1, 2009 Statins (inhibitors of the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase) are widely prescribed medications for the prevention of incident and recurrent cardiovascular disease events and death. They are powerful assets in the current arsenal of ca ... Full text Cite

Preface

Journal Article Materials Research Society Symposium Proceedings · December 1, 2009 Cite

Genomic and Personalized Medicine, Two-Vol Set

Journal Article Genomic and Personalized Medicine, Two-Vol Set · December 1, 2009 This two-volume set provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting dis ... Cite

Evaluation of the PharmGKB knowledge base as a resource for efficiently assessing the clinical validity and utility of pharmacogenetic assays.

Journal Article AMIA Annu Symp Proc · November 14, 2009 Prior to clinical use, pharmacogenetic tests should be systematically evaluated for their clinical validity and utility. Here, we evaluated whether the publicly available, online Pharmacogenomics Knowledge Base (PharmGKB) could facilitate such assessments ... Link to item Cite

The SLCO1B1*5 genetic variant is associated with statin-induced side effects.

Journal Article J Am Coll Cardiol · October 20, 2009 OBJECTIVES: We sought to identify single nucleotide polymorphisms associated with mild statin-induced side effects. BACKGROUND: Statin-induced side effects can interfere with therapy. Single nucleotide polymorphisms in cytochrome P450 enzymes impair statin ... Full text Link to item Cite

Gene expression signatures diagnose influenza and other symptomatic respiratory viral infections in humans.

Journal Article Cell Host Microbe · September 17, 2009 Acute respiratory infections (ARIs) are a common reason for seeking medical attention, and the threat of pandemic influenza will likely add to these numbers. Using human viral challenge studies with live rhinovirus, respiratory syncytial virus, and influen ... Full text Link to item Cite

Gene expression patterns in peripheral blood correlate with the extent of coronary artery disease.

Journal Article PLoS One · September 14, 2009 Systemic and local inflammation plays a prominent role in the pathogenesis of atherosclerotic coronary artery disease, but the relationship of whole blood gene expression changes with coronary disease remains unclear. We have investigated whether gene expr ... Full text Link to item Cite

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.

Journal Article Genet Med · August 2009 The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers ... Full text Link to item Cite

Genomic and Personalized Medicine: Happening now

Journal Article Personalized Medicine · July 29, 2009 Full text Cite

The Center for Genomic Medicine at the Duke Institute for Genome Sciences & Policy: propelling genomics into clinical practice.

Journal Article Per Med · May 2009 Until now, advances in the genomic sciences have had a minor impact on the practice of medicine. But genomic medicine has the potential to radically alter healthcare in the USA and around the world. By understanding the predictive power of patients' genome ... Full text Link to item Cite

A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine.

Journal Article BMC Med Inform Decis Mak · March 23, 2009 BACKGROUND: In recent years, the completion of the Human Genome Project and other rapid advances in genomics have led to increasing anticipation of an era of genomic and personalized medicine, in which an individual's health is optimized through the use of ... Full text Link to item Cite

High heritability of metabolomic profiles in families burdened with premature cardiovascular disease.

Journal Article Mol Syst Biol · 2009 Integration of genetic and metabolic profiling holds promise for providing insight into human disease. Coronary artery disease (CAD) is strongly heritable, but the heritability of metabolomic profiles has not been evaluated in humans. We performed quantita ... Full text Link to item Cite

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

Journal Article PLoS Genet · January 2009 Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in ... Full text Open Access Link to item Cite

Transforming the practice of medicine using genomics.

Journal Article Clin Cases Miner Bone Metab · January 2009 Recent studies have demonstrated the use of genomic data, particularly gene expression signatures, as clinical prognostic factors in complex diseases. Such studies herald the future for genomic medicine and the opportunity for personalized prognosis in a v ... Link to item Cite

Sediment Cascades: An Integrated Approach

Journal Article Sediment Cascades an Integrated Approach · January 1, 2009 Sediment Cascades: An Integrated Approach provides a comprehensive overview that addresses the transport of sediment through the landscape. Suitable for academic researchers, industry practitioners, research students and advanced level undergraduates, seek ... Full text Cite

Preface

Journal Article Genomic and Personalized Medicine Two Vol Set · January 1, 2009 Full text Cite

A genomic approach to colon cancer risk stratification yields biologic insights into therapeutic opportunities.

Journal Article Proc Natl Acad Sci U S A · December 9, 2008 Gene expression profiles provide an opportunity to dissect the heterogeneity of solid tumors, including colon cancer, to improve prognosis and predict response to therapies. Bayesian binary regression methods were used to generate a signature of disease re ... Full text Link to item Cite

Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response.

Journal Article Circ Cardiovasc Genet · December 2008 BACKGROUND: There is interindividual variation in low-density lipoprotein cholesterol (LDLc) lowering by statins and limited study into the genetic associations of the dose dependant LDLc lowering by statins. METHODS AND RESULTS: Five hundred nine patients ... Full text Link to item Cite

Genomic and Personalized Medicine: V1-2

Book · November 11, 2008 This two-volume set - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the late ... Full text Cite

Sepsis and the Genomic Revolution

Chapter · November 11, 2008 Full text Cite

Correlation of peripheral-blood gene expression with the extent of coronary artery stenosis.

Journal Article Circ Cardiovasc Genet · October 2008 BACKGROUND: The molecular pathophysiology of coronary artery disease (CAD) includes cytokine release and a localized inflammatory response within the vessel wall. The extent to which CAD and its severity is reflected by gene expression in circulating cells ... Full text Link to item Cite

Challenges in enrollment of minority, pediatric, and geriatric patients in emergency and acute care clinical research.

Journal Article Ann Emerg Med · June 2008 STUDY OBJECTIVE: Emergency department (ED) -based clinical research has the potential to include patient populations that are typically underrepresented in clinical research. The objective of this study is to assess how emergency clinical care and research ... Full text Link to item Cite

Gene expression signatures, clinicopathological features, and individualized therapy in breast cancer.

Journal Article JAMA · April 2, 2008 CONTEXT: Gene expression profiling may be useful for prognostic and therapeutic strategies in breast carcinoma. OBJECTIVES: To demonstrate the value in integrating genomic information with clinical and pathological risk factors, to refine prognosis, and to ... Full text Link to item Cite

Gene expression signatures of radiation response are specific, durable and accurate in mice and humans.

Journal Article PLoS One · April 2, 2008 BACKGROUND: Previous work has demonstrated the potential for peripheral blood (PB) gene expression profiling for the detection of disease or environmental exposures. METHODS AND FINDINGS: We have sought to determine the impact of several variables on the P ... Full text Open Access Link to item Cite

Clinical genomic testing: getting it right.

Journal Article J Cardiovasc Transl Res · March 2008 Full text Link to item Cite

Highlights of the year in JACC 2007.

Journal Article J Am Coll Cardiol · January 29, 2008 Full text Link to item Cite

Regression of atherosclerosis with therapeutic antibodies pipe cleaner or pipe dream?

Journal Article J Am Coll Cardiol · December 11, 2007 Featured Publication Full text Link to item Cite

Genetic profiling and tailored therapy in asthma: are we there yet?

Journal Article Curr Opin Mol Ther · December 2007 Featured Publication Asthma is characterized by reversible bronchial hyper-responsiveness and airway inflammation, and encompasses a wide variety of patients with different clinical phenotypes that display variable responses to therapy. The definition of genomic variation pres ... Link to item Cite

Corrigenda: Genomic signatures to guide the use of chemotherapeutics.

Journal Article Nature medicine · November 2007 Cite

Opposing effects of the D70 mutation and the shared epitope in HLA-DR4 on disease activity and certain disease phenotypes in rheumatoid arthritis.

Journal Article Ann Rheum Dis · November 2007 BACKGROUND: Certain sequences present in the hypervariable region of human leucocyte antigen (HLA)-DRB1 known as the shared epitope (SE) are hypothesised to increase the risk of rheumatoid arthritis (RA), whereas alleles encoding aspartic acid at position ... Full text Link to item Cite

Taking cardiovascular genetic association studies to the next level.

Journal Article J Am Coll Cardiol · September 4, 2007 Featured Publication Genetic information is beginning to have a direct impact on patient care and it is important that cardiologists appreciate the value and approaches to associating genetic variation and health outcomes. Genetic associations should be based on compelling gen ... Full text Link to item Cite

Peripheral blood expression of nuclear factor-kappab-regulated genes is associated with rheumatoid arthritis disease activity and responds differentially to anti-tumor necrosis factor-alpha versus methotrexate.

Journal Article J Rheumatol · September 2007 Featured Publication OBJECTIVE: To evaluate peripheral blood expression of genes regulated by nuclear factor-kappaB (NF-kappaB), a key mediator of tumor necrosis factor-alpha (TNF-alpha) signaling, in patients with rheumatoid arthritis (RA) before and during treatment with ant ... Link to item Cite

Gene expression signatures that predict radiation exposure in mice and humans.

Journal Article PLoS Med · April 2007 Featured Publication BACKGROUND: The capacity to assess environmental inputs to biological phenotypes is limited by methods that can accurately and quantitatively measure these contributions. One such example can be seen in the context of exposure to ionizing radiation. METHOD ... Full text Open Access Link to item Cite

Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease.

Journal Article J Med Genet · March 2007 Coronary artery disease and acute myocardial infarction are complex traits in which there has been recent research to identify the principal genes that engender susceptibility or provide protection. Although there has been exceptional progress in the techn ... Full text Link to item Cite

An integrated genomic-based approach to individualized treatment of patients with advanced-stage ovarian cancer.

Other J Clin Oncol · February 10, 2007 Featured Publication PURPOSE: The purpose of this study was to develop an integrated genomic-based approach to personalized treatment of patients with advanced-stage ovarian cancer. We have used gene expression profiles to identify patients likely to be resistant to primary pl ... Full text Link to item Cite

Highlights of the Year in JACC 2006.

Journal Article J Am Coll Cardiol · January 30, 2007 Full text Link to item Cite

Peripheral blood gene expression profiling for cardiovascular disease assessment.

Journal Article Genomic Med · 2007 Whole blood gene expression profiling has the potential to be informative about dynamic changes in disease states and to provide information on underlying disease mechanisms. Having demonstrated proof of concept in animal models, a number of studies have n ... Full text Link to item Cite

Genomic signatures to guide the use of chemotherapeutics.

Other Nat Med · November 2006 Featured Publication Using in vitro drug sensitivity data coupled with Affymetrix microarray data, we developed gene expression signatures that predict sensitivity to individual chemotherapeutic drugs. Each signature was validated with response data from an independent set of ... Full text Link to item Cite

Microarrays coming of age in cardiovascular medicine: standards, predictions, and biology.

Journal Article J Am Coll Cardiol · October 17, 2006 Featured Publication Full text Link to item Cite

Public health. Genomics and medicine at a crossroads in Chernobyl.

Journal Article Science · October 6, 2006 Featured Publication Full text Link to item Cite

A framework to evaluate the economic impact of pharmacogenomics.

Journal Article Pharmacogenomics · September 2006 Featured Publication INTRODUCTION: Pharmacogenomics and personalized medicine promise to improve healthcare by increasing drug efficacy and minimizing side effects. There may also be substantial savings realized by eliminating costs associated with failed treatment. This paper ... Full text Link to item Cite

A genomic strategy to refine prognosis in early-stage non-small-cell lung cancer.

Journal Article N Engl J Med · August 10, 2006 Featured Publication BACKGROUND: Clinical trials have indicated a benefit of adjuvant chemotherapy for patients with stage IB, II, or IIIA--but not stage IA--non-small-cell lung cancer (NSCLC). This classification scheme is probably an imprecise predictor of the prognosis of a ... Full text Link to item Cite

Gene expression analysis of cardiovascular diseases: novel insights into biology and clinical applications.

Journal Article J Am Coll Cardiol · July 18, 2006 Featured Publication Although the contribution of genetics to complex cardiovascular diseases such as atherosclerosis has been accepted for quite some time, full and detailed knowledge of the individual causative genes has been elusive. With the advent of genomic technologies ... Full text Link to item Cite

Prescribing BiDil: is it black and white?

Journal Article J Am Coll Cardiol · July 4, 2006 Featured Publication The approval of BiDil as an adjunct treatment in self-identified blacks with heart failure raises questions regarding the underlying etiology of drug response in this target population and the ability to accurately identify patients who are most likely to ... Full text Link to item Cite

Increased case-fatality rate associated with outbreaks of Neisseria meningitidis infection, compared with sporadic meningococcal disease, in the United States, 1994-2002.

Journal Article Clin Infect Dis · July 1, 2006 BACKGROUND: Outbreaks of meningococcal disease are infrequent but important public health events. We characterize outbreak-associated cases in the United States and compare them with sporadic disease. METHODS: Outbreaks of meningococcal disease that occurr ... Full text Link to item Cite

Genomic analyses: a neonatology perspective.

Journal Article J Pediatr · June 2006 Featured Publication Full text Link to item Cite

Prosthetic valve endocarditis due to coagulase-negative staphylococci: findings from the International Collaboration on Endocarditis Merged Database.

Journal Article Eur J Clin Microbiol Infect Dis · June 2006 Infective endocarditis due to coagulase-negative staphylococci is increasingly recognized as a difficult-to-treat disease associated with poor outcome. The aim of this report is to describe the characteristics and outcome of patients with prosthetic valve ... Full text Link to item Cite

Use of sentinel laboratories by clinicians to evaluate potential bioterrorism and emerging infections.

Journal Article Clin Infect Dis · May 1, 2006 With the persistent threat of emerging infectious diseases and bioterrorism, it has become increasingly important that clinicians be able to identify the diseases that might signal the occurrence of these unusual events. Essential to a thoughtful diagnosti ... Full text Link to item Cite

Embracing the complexity of genomic data for personalized medicine.

Journal Article Genome Res · May 2006 Featured Publication Numerous recent studies have demonstrated the use of genomic data, particularly gene expression signatures, as clinical prognostic factors in cancer and other complex diseases. Such studies herald the future of genomic medicine and the opportunity for pers ... Full text Link to item Cite

The future may be closer than you think: a response from the Personalized Medicine Coalition to the Royal Society's report on personalized medicine.

Journal Article Per Med · May 2006 A recent report from the British Royal Society on the prospects for personalized medicine provides a sobering assessment of the field and its prospects. The report contends that pharmacogenetics has little clinical relevance at the moment and will only pro ... Full text Link to item Cite

Translating genomic biomarkers into clinically useful diagnostics.

Journal Article Expert Rev Mol Diagn · March 2006 Featured Publication The landmark sequencing of the human genome has ushered in a new field of large-scale research. Advances in understanding the molecular basis of disease have opened up new opportunities to develop genomics-based tools to diagnose, predict disease onset or ... Full text Link to item Cite

Highlights of the Year in JACC 2005.

Journal Article J Am Coll Cardiol · January 3, 2006 Full text Link to item Cite

Optimizing biomarker development for clinical studies at the lead optimization stage of drug development

Conference OPTIMIZING THE DRUG-LIKE PROPERTIES OF LEADS IN DRUG DISCOVERY · January 1, 2006 Link to item Cite

Implications of pharmacogenomics for drug development and clinical practice.

Journal Article Arch Intern Med · November 14, 2005 Featured Publication Pharmacogenomics is likely to be among the first clinical applications of the Human Genome Project and is certain to have an enormous impact on the clinical practice of medicine. Herein, we discuss the potential implications of pharmacogenomics on the drug ... Full text Link to item Cite

Prospects for personalized cardiovascular medicine: the impact of genomics.

Journal Article J Am Coll Cardiol · November 1, 2005 Featured Publication Sequencing of the human genome has ushered in prospects for individualizing cardiovascular health care. There is growing evidence that the practice of cardiovascular medicine might soon have a new toolbox to predict and treat disease more effectively. The ... Full text Link to item Cite

Genomic medicine: genetic variation and its impact on the future of health care.

Journal Article Philos Trans R Soc Lond B Biol Sci · August 29, 2005 Featured Publication Advances in genome technology and other fruits of the Human Genome Project are playing a growing role in the delivery of health care. With the development of new technologies and opportunities for large-scale analysis of the genome, transcriptome, proteome ... Full text Link to item Cite

Genomic medicine: bringing biomarkers to clinical medicine.

Journal Article Curr Opin Chem Biol · August 2005 Featured Publication An important by-product of sequencing the human genome has been the development of a novel 'toolbox' for biomarker discovery and development. Genomic medicine is an emerging discipline in the genome sciences that integrates these tools to interrogate genom ... Full text Link to item Cite

Aspirin resistance and a single gene.

Journal Article Am J Cardiol · March 15, 2005 This study examined the association of single nucleotide polymorphisms in 4 candidate genes in a cohort of subjects with aspirin resistance. Aspirin resistance was significantly associated with genetic variation in the platelet surface adenosine 5-diphosph ... Full text Link to item Cite

The Personalized Medicine Coalition: goals and strategies.

Journal Article Am J Pharmacogenomics · 2005 Featured Publication The concept of personalized medicine--that medical care can be tailored to the genomic and molecular profile of the individual--has repercussions that extend far beyond the technology that makes it possible. The adoption of personalized medicine will requi ... Full text Link to item Cite

Targeted therapies for cancer 2004.

Journal Article Am J Clin Pathol · October 2004 Featured Publication The regulatory agency approvals in the United States and Europe of imatinib mesylate (Gleevec) for patients with bcr/abl-positive chronic myelogenous leukemia, cetuximab (Erbitux) for patients with epidermal growth factor receptor overexpressing metastatic ... Full text Link to item Cite

Sp and GATA factors are critical for Apolipoprotein AI downstream enhancer activity in human HepG2 cells.

Journal Article Gene · December 24, 2003 The factors that bind to the hepatic-specific human apolipoprotein AI (apoAI) 48-bp downstream enhancer (DSE) were identified and characterized by electrophoretic mobility shift assays. A significant homology was shown between the histone 4 (H4) promoters ... Full text Link to item Cite

The integration of molecular diagnostics with therapeutics. Implications for drug development and pathology practice.

Journal Article Am J Clin Pathol · January 2003 It is widely anticipated that during the next 5 years the molecular diagnostic industry will continue to grow at double-digit pace to meet increasing demand for personalized medicine. A wide variety of drugs in late preclinical and early clinical developme ... Full text Link to item Cite

Integration of molecular diagnostics with therapeutics: implications for drug discovery and patient care.

Journal Article Expert Rev Mol Diagn · November 2002 Featured Publication The Introduction of targeted therapeutics into clinical practice has created major opportunities for further development of the molecular diagnostics industry. Emerging genomic and proteomic technologies and information are now resulting in the molecular s ... Full text Link to item Cite

Integrating diagnostics and therapeutics: revolutionizing drug discovery and patient care.

Journal Article Drug Discov Today · August 15, 2002 Over the next five years it is widely anticipated that the molecular diagnostics industry will continue to grow at double-digit pace to meet increasing demand for personalized medicine. A wide variety of drugs in late preclinical and early clinical develop ... Full text Link to item Cite

The path to personalized medicine.

Journal Article Curr Opin Chem Biol · August 2002 Featured Publication Advances in personalized medicine, or the use of an individual's molecular profile to direct the practice of medicine, have been greatly enabled through human genome research. This research is leading to the identification of a range of molecular markers f ... Full text Link to item Cite

Atherosclerosis: a cancer of the blood vessels?

Journal Article Am J Clin Pathol · December 2001 A series of molecular pathways have in common a significant role in the pathogenesis and progression of atherosclerosis and cancer. Shared mechanisms implicated for both diseases include oxidative stress and the cellular damage that results from it, toxic ... Full text Link to item Cite

Atherosclerosis and cancer: common molecular pathways of disease development and progression.

Journal Article Ann N Y Acad Sci · December 2001 Recently, a series of shared molecular pathways have emerged that have in common a significant role in the pathogenesis and progression of both atherosclerosis and cancer. Oxidative stress and the cellular damage that results from it have been implicated i ... Link to item Cite

Personalized medicine: revolutionizing drug discovery and patient care.

Journal Article Trends Biotechnol · December 2001 Featured Publication Advances in human genome research are opening the door to a new paradigm for practising medicine that promises to transform healthcare. Personalized medicine, the use of marker-assisted diagnosis and targeted therapies derived from an individual's molecula ... Full text Link to item Cite

Gender differences in exercise-induced changes in sex hormone levels and lipid peroxidation in athletes participating in the Hawaii Ironman triathlon. Ginsburg-gender and exercise-induced lipid peroxidation.

Journal Article Clin Chim Acta · March 2001 BACKGROUND: Exercise reduces the risk of coronary heart disease in men and women but paradoxically, may promote free-radical formation, lipid peroxidation and vascular tissue injury. In this study, we assessed whether exercise-induced oxidative stress simi ... Full text Link to item Cite

Dyslipidemia in patients with CAD: Rational use of diets and drugs

Journal Article Consultant · September 1, 2000 In patients with established coronary artery disease (CAD), therapy to lower serum low-density lipoprotein (LDL) levels can halt the progression of atherosclerosis; it may also permit disease regression and improve endothelial function. Clinical trials hav ... Cite

Gender role orientation and fearfulness in children with anxiety disorders.

Journal Article J Anxiety Disord · 2000 Research on gender differences in children's fears has generally shown that girls are more fearful than boys. A common hypothesis offered for this finding is that gender role orientations or expectations may be operating. However, this hypothesis has not b ... Full text Link to item Cite

Lipid management for patients with CAD, Part 2: A guide to drug therapy

Journal Article Journal of Critical Illness · January 1, 2000 The primary goal of lipid therapy is to reduce serum levels of low- density lipoprotein (LDL). However, lipid-altering agents variously affect multiple lipoprotein species and should be chosen to treat specific patterns of dyslipidemia. Available agents in ... Cite

Lipid management for patients with CAD, Part 1: What to expect, when to start. Consider an aggressive strategy for prevention of cardiac events

Journal Article Journal of Critical Illness · January 1, 2000 In patients with established coronary artery disease (CAD), therapy to lower serum low-density lipoprotein (LDL) levels can halt the progression of atherosclerosis; it may also permit disease regression and improve endothelial function. Clinical trials hav ... Cite

Dyslipidemia in patients with CAD: How to make best use of drug therapy

Journal Article Consultant · January 1, 2000 The primary goal of lipid therapy is to reduce serum levels of low-density lipoprotein (LDL). However, lipid-altering agents variously affect multiple lipoprotein species and should be chosen to treat specific patterns of dyslipidemia. Available agents inc ... Cite

Acute changes in serum lipids and lipoprotein subclasses in triathletes as assessed by proton nuclear magnetic resonance spectroscopy.

Journal Article Arterioscler Thromb Vasc Biol · August 1999 Exercise is associated with changes in lipids that may protect against coronary heart disease (CHD). In this study of 28 triathletes, we analyzed acute changes in serum lipid and lipoprotein concentrations after completion of the 1995 World Championship Ha ... Full text Link to item Cite

Characterization of a cholesterol response element (CRE) in the promoter of the cholesteryl ester transfer protein gene: functional role of the transcription factors SREBP-1a, -2, and YY1.

Journal Article J Lipid Res · July 1999 Cholesteryl ester transfer protein (CETP) is expressed in human adipocytes, where it acts to promote selective uptake of HDL-CE (Benoist, F., M. McDonnell, P. Lau, R. Milne, and R. McPherson. 1997. J. Biol. Chem. 272: 23572;-23577). In contrast to other ma ... Link to item Cite

Cardiac troponin T and I, echocardiographic [correction of electrocardiographic] wall motion analyses, and ejection fractions in athletes participating in the Hawaii Ironman Triathlon.

Journal Article Am J Cardiol · April 1, 1999 Cardiac troponin T (cTnT) and troponin I (cTnI) are highly sensitive and specific for detecting myocardial damage even in the presence of skeletal muscle injury. In this study, we assessed whether ultraendurance exercise induced cardiomyocyte injury using ... Full text Link to item Cite

Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

Journal Article Hum Genet · March 1998 Long QT syndrome (LQTS), is an inherited cardiac disorder in which ventricular tachyarrhythmias predispose affected individuals to syncope, seizures, and sudden death. Characteristic electrocardiographic findings include a prolonged QT interval, T wave alt ... Full text Link to item Cite

Left ventricular hypertrophy in athletes.

Journal Article Am J Cardiol · November 15, 1997 Left ventricular wall thickness >1.3 cm, septal-to-posterior wall ratios > 1.5, diastolic left ventricular size >6.0 cm, and eccentric or concentric remodeling are rare in athletes. Values outside of these cutoffs in an athlete of any age probably represen ... Full text Link to item Cite

Evaluation and clinical application of a direct low-density lipoprotein cholesterol assay in normolipidemic and hyperlipidemic adults.

Journal Article Am J Cardiol · November 15, 1997 This study examines the performance and clinical use of a commercial immunoseparation assay for low-density lipoprotein (LDL) cholesterol in a sample population of normolipidemic and hyperlipidemic adult volunteers. Using paired fasting and nonfasting samp ... Full text Link to item Cite

Acquired dynamic left ventricular outflow tract obstruction complicating acute anterior myocardial infarction: serial echocardiographic and clinical evaluation.

Journal Article J Am Soc Echocardiogr · September 1997 We describe three cases of dynamic outflow obstruction complicating acute anterior myocardial infarction. Serial echocardiography suggests the intraventricular gradient results from basal hyperkinesis, the latter being a reciprocal response to the apical w ... Full text Link to item Cite

Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.

Journal Article J Clin Invest · April 15, 1997 To understand the factors contributing to the synthesis of human apolipoprotein AI (apoAI), relative apoAI synthesis was measured from endoscopic biopsy samples obtained from 18 healthy volunteers. The relative amount of apoAI synthesis was directly correl ... Full text Link to item Cite

Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

Journal Article Am J Med Genet · October 2, 1996 Autosomal-dominant long QT syndrome (LQT) is an inherited disorder, predisposing affected individuals to sudden death from tachyarrhythmias. To identify the gene(s) responsible for LQT, we identified and characterized an LQT family consisting of 48 individ ... Full text Link to item Cite

Chest pain in women.

Journal Article N Engl J Med · September 12, 1996 Full text Link to item Cite

Why cardiologists should be interested in estrogen.

Journal Article Am J Cardiol · September 1, 1996 Full text Link to item Cite

Analytical performance and clinical utility of a direct LDL-cholesterol assay in a hyperlipidemic pediatric population.

Journal Article Clin Chem · August 1996 This study compares a new latex immunoseparation method for the direct determination of plasma low-density lipoprotein cholesterol (LDL-C) with the reference procedure for LDL-C (beta-quantification) in a pediatric hyperlipidemic population. The direct LDL ... Link to item Cite

Effects of a single bout of ultraendurance exercise on lipid levels and susceptibility of lipids to peroxidation in triathletes.

Journal Article JAMA · July 17, 1996 OBJECTIVE: To determine the effects of a single bout of ultraendurance exercise, as a model for physiologic stress, on lipid and lipoprotein levels, and oxidative susceptibility of lipids in highly trained athletes. DESIGN: Observational trial. POPULATION ... Link to item Cite

The evaluation of chest pain in women.

Journal Article N Engl J Med · May 16, 1996 Full text Link to item Cite

Analytical performance and clinical utility of a direct LDL-cholesterol assay in a hyperlipidemic pediatric population

Journal Article Clinical Chemistry · January 1, 1996 This study compares a new latex immunoseparation method for the direct determination of plasma low-density lipoprotein cholesterol (LDL-C) with the reference procedure for LDL-C (β-quantification) in a pediatric hyperlipidemic population. The direct LDL-C ... Full text Cite

Transcriptional regulation of the cholesteryl ester transfer protein gene by the orphan nuclear hormone receptor apolipoprotein AI regulatory protein-1.

Journal Article J Biol Chem · December 15, 1995 We have defined a 105-base pair tissue-restricted promoter for the cholesteryl ester transfer protein (CETP) gene that contains a nuclear hormone receptor response element essential for transcriptional activity. DNaseI protection and electrophoretic mobili ... Full text Link to item Cite

Intestinal apolipoprotein AI gene transcription is regulated by multiple distinct DNA elements and is synergistically activated by the orphan nuclear receptor, hepatocyte nuclear factor 4.

Journal Article J Clin Invest · July 1995 We have used apolipoprotein genes to investigate the signal transduction mechanisms involved in the control of intestinal specific gene expression. The human apoAI, apoCIII, and apoAIV genes are tandemly organized within a 15-kb DNA segment and are express ... Full text Link to item Cite

Effects of heparin and cardiac catheterization on serum lipoprotein and triglyceride levels.

Journal Article Am J Cardiol · July 1, 1994 This study determined whether heparin administration and procedures involving heparin significantly affect lipid measurement. Serum lipid and lipoprotein analyses (total cholesterol, triglycerides, high-density lipoprotein [HDL] cholesterol, low-density li ... Full text Link to item Cite

High-density lipoprotein subfractions.

Journal Article Am J Med · June 1993 High-density lipoprotein (HDL) consists of a heterogeneous group of particles defined either by size or by apolipoprotein content. Subfractions of HDL appear to have distinct but interrelated metabolic functions, including facilitation of cholesteryl ester ... Full text Link to item Cite

Antagonism between apolipoprotein AI regulatory protein 1, Ear3/COUP-TF, and hepatocyte nuclear factor 4 modulates apolipoprotein CIII gene expression in liver and intestinal cells.

Journal Article Mol Cell Biol · April 1992 Apolipoprotein CIII (apoCIII), a lipid-binding protein involved in the transport of triglycerides and cholesterol in the plasma, is synthesized primarily in the liver and the intestine. A cis-acting regulatory element, C3P, located at -90 to -66 upstream f ... Full text Link to item Cite

Coronary artery disease risk when total cholesterol levels are desirable

Journal Article Cardiology Board Review · January 1, 1992 Cite

Frequency of low serum high-density lipoprotein cholesterol levels in hospitalized patients with "desirable" total cholesterol levels.

Journal Article Am J Cardiol · July 15, 1991 Because the National Cholesterol Education Program guidelines suggest that levels of total serum cholesterol less than 5.17 mmol/liter (200 mg/dl) are "desirable," we performed a retrospective observational analysis to determine the prevalence of coronary ... Full text Link to item Cite

Reassembled plasma low density lipoproteins. Phospholipid-cholesterol ester-apoprotein B complexes.

Journal Article J Biol Chem · May 25, 1984 Reassembled low density lipoprotein (LDL) complexes have been prepared by the interaction of lipid-free sodium deoxycholate-solubilized apoprotein B (apoB) of native human LDL with preformed, 200 A in diameter, microemulsions of cholesteryl oleate (CO), su ... Link to item Cite

Physical properties of cholesteryl esters.

Journal Article Prog Lipid Res · 1984 Cholesteryl esters, the intracellular storage form and intravascular transport form of cholesterol, can exist in crystal, liquid crystal and liquid states. The physical state of cholesteryl esters at physiologic temperatures may be a determinant of their p ... Full text Link to item Cite

Temperature-dependent molecular motions of cholesterol esters: a carbon-13 nuclear magnetic resonance study.

Journal Article Biochemistry · December 21, 1982 Carbon-13 NMR spectroscopy at 50.3 MHz has been used to study four long-chain cholesterol esters with a double bond in the omega-9 position: cholesteryl oleate, C18:1, omega-9; cholesteryl linoleate, C18:2, omega-6,9; cholesteryl erucate, C22:1, omega-9; c ... Full text Link to item Cite

Physical properties of cholesteryl esters having 20 carbons or more.

Journal Article Biochim Biophys Acta · April 23, 1981 By polarizing microscopy and differential scanning calorimetry we observed that the relative stability of the smectic and cholesteric mesophases of cholesteryl esters of acyl chain length of 20 carbons or more depends on the length of the acyl chain and it ... Full text Link to item Cite

Stereoelectronic Control in the Electrochemical and Mercury-Promoted Reductive Acetoxylation of α,α’-Dibromobicycloalkanones

Journal Article Journal of the American Chemical Society · July 1, 1979 Reductions in acetic acid of the stereochemically well-defined α,α'-dibromo ketones cis-2,6-dibromo-3,3,5,5-tetramethylcyclohexanone, cis-2,6-dibromo-4-tert-butylcyclohexanone, 2,4-dibromobicyclo[3.2.1]octan-3-one (and its 2,4-dimethyl derivative), and dib ... Full text Cite

Additions and Corrections: Stereoelectronic Control in the Electrochemical and Mercury-Promoted Reductive Acetoxylation of α,α⎹-Dibromobicycloalkanones (Journal of the American Chemical Society (1979) 101(24) (7439))

Journal Article Journal of the American Chemical Society · February 1, 1979 Page 3928, column 2: The caption to a drawing is in error. The proper placement of numbers is given below. © 1979, American Chemical Society. All rights reserved. ... Full text Cite

Reductive Acetoxylation on α, α's-Dibromocycloalkanones by Ultrasonically Dispersed Mercury

Journal Article Journal of Organic Chemistry · January 1, 1979 The α, α's-dibromocycloalkanones of ring size 5-12 were reduced by ultrasonically dispersed mercury in acetic acid. Products were the corresponding cycloalkanone and α-acetoxycycloalkanone. The ratio of these two is quite sensitive to ring size, and this f ... Full text Cite

Reduction of α,α′-dibromoketones by ultrasonically dispersed mercury in some aliphatic ketone solvents. A convenient synthesis of 4-isopropylidene-1,3-dioxolans

Journal Article Journal of the Chemical Society Chemical Communications · January 1, 1978 Reduction of 2,4-dibromo-2-4-dimethylpentan-3-one by finely dispersed mercury in ketonic solvents provides a simple synthesis of the 4-isopropylidene-5,5-dimethyl-1,3-dioxolan ring system. ... Full text Cite