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phone 617.358.2517
Research Expertise & Professional Interests Josée Dupuis, Ph.D, is a Professor and Chair of Biostatistics at Boston University School of Public Health. She previously held a faculty position at Northwestern University and a senior statistical geneticist position at Genome Therapeutics Corporation, a small biotech company. She has extensive experience in the development and application of methods for genome-wide association studies, gene by environment interaction investigation, genetic meta-analysis and rare variant analysis, with special emphasis on the development of novel statistical approaches to analyze genetic data collected on large families. She is involved in the Framingham Heart Study, collaborating on projects to identify genes influencing diabetes related traits, pulmonary function traits and atrial fibrillation. She teaches BS860 (Statistical Genetics II) in the spring semester of even years.
Self-Described Keywords Type-2 Diabetes

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Concept ABO Blood-Group System
Concept Glucagon-Like Peptide-1 Receptor
Concept Age Factors
Concept Alcoholism
Concept Algorithms
Concept Alleles
Concept Alzheimer Disease
Concept Amidohydrolases
Concept Amino Acid Sequence
Concept Anthropometry
Concept Antibodies, Monoclonal
Concept Aorta, Abdominal
Concept Arteries
Concept Asian Americans
Concept Atrial Fibrillation
Concept Base Sequence
Concept Bayes Theorem
Concept Beverages
Concept Blood Platelets
Concept Blood Pressure
Concept Body Height
Concept Body Weight
Concept Energy Intake
Concept Carbon Monoxide
Concept Carnitine O-Palmitoyltransferase
Concept Carotid Artery Diseases
Concept Cause of Death
Concept Cells, Cultured
Concept Brain Ischemia
Concept Cholesterol
Concept Chromosomes, Human
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 10
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 14
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 20
Concept Chromosomes, Human, Pair 21
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 9
Concept Chronic Disease
Concept Computer Simulation
Concept Coronary Artery Disease
Concept Coronary Disease
Concept Creatinine
Concept Cross-Sectional Studies
Concept Crossing Over, Genetic
Concept Darkness
Concept Data Interpretation, Statistical
Concept Deafness
Concept Decision Support Techniques
Concept Dementia
Concept Demography
Concept Diabetes Mellitus
Concept Diabetes Mellitus, Type 1
Concept Diabetes Mellitus, Type 2
Concept Diagnostic Errors
Concept Diet
Concept Diet Surveys
Concept Dietary Fats
Concept Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Concept Disease Susceptibility
Concept DNA, Mitochondrial
Concept Docosahexaenoic Acids
Concept Duffy Blood-Group System
Concept Dwarfism, Pituitary
Concept Electrocardiography
Concept England
Concept Enhancer Elements, Genetic
Concept Environment
Concept Epidermal Growth Factor
Concept Epistasis, Genetic
Concept Erythrocytes
Concept Estradiol
Concept Ethnic Groups
Concept Exons
Concept Fasting
Concept Fatty Acids, Unsaturated
Concept Femur
Concept Fibrinogen
Concept Fibroblast Growth Factors
Concept Follow-Up Studies
Concept Forced Expiratory Volume
Concept Genes
Concept Genes, Dominant
Concept Genetic Testing
Concept Genetics, Population
Concept Glucose Tolerance Test
Concept Glucose-6-Phosphatase
Concept Heart Diseases
Concept High Mobility Group Proteins
Concept Hippocampus
Concept Huntington Disease
Concept Image Processing, Computer-Assisted
Concept Immunohistochemistry
Concept Insulin
Concept Insulin-Like Growth Factor I
Concept Interferon Type I
Concept Introns
Concept Light
Concept Lipase
Concept Cholesterol, HDL
Concept Cholesterol, LDL
Concept Longitudinal Studies
Concept Mannosidases
Concept Mathematical Computing
Concept Menopause
Concept Metalloendopeptidases
Concept Microfilament Proteins
Concept Mitochondria
Concept Nipples
Concept Nuclear Family
Concept Nutrition Surveys
Concept Nutritional Status
Concept Organ Size
Concept Pakistan
Concept Parents
Concept Pharmacogenetics
Concept Phosphoric Diester Hydrolases
Concept Vitamin K 1
Concept Plasma
Concept Population Density
Concept Population Surveillance
Concept Fenofibrate
Concept Proinsulin
Concept Promoter Regions, Genetic
Concept Prospective Studies
Concept Pyrophosphatases
Concept Recurrence
Concept Registries
Concept Repressor Proteins
Concept Residence Characteristics
Concept Retrospective Studies
Concept Risk Factors
Concept Seasons
Concept Severity of Illness Index
Concept Software
Concept Spine
Concept Suction
Concept Sweetening Agents
Concept Syndrome
Concept Thiolester Hydrolases
Concept Tumor Necrosis Factor-alpha
Concept Vena Cava, Inferior
Concept Vitamin K
Concept Vitamins
Concept X Chromosome
Concept Zinc
Concept Eicosapentaenoic Acid
Concept Electrophoresis, Gel, Two-Dimensional
Concept Cohort Studies
Concept Signal Transduction
Concept Exercise
Concept Absorptiometry, Photon
Concept Fatty Acids, Omega-3
Concept Cadherins
Concept Interleukin-6
Concept Body Mass Index
Concept Incidence
Concept Prevalence
Concept Cluster Analysis
Concept Confidence Intervals
Concept Chi-Square Distribution
Concept Case-Control Studies
Concept Randomized Controlled Trials as Topic
Concept Transforming Growth Factor alpha
Concept Sequence Tagged Sites
Concept Apolipoprotein A-I
Concept Complement Factor H
Concept N-Acetylglucosaminyltransferases
Concept Sequence Homology, Amino Acid
Concept In Situ Hybridization
Concept Age of Onset
Concept Molecular Epidemiology
Concept DNA Primers
Concept alpha-Linolenic Acid
Concept Myogenic Regulatory Factors
Concept Genomic Imprinting
Concept Homeodomain Proteins
Concept Disease Progression
Concept Spouses
Concept ATP-Binding Cassette Transporters
Concept Minisatellite Repeats
Concept Intercellular Adhesion Molecule-1
Concept Dipeptidyl Peptidase 4
Concept Microsatellite Repeats
Concept CpG Islands
Concept Chemokine CCL2
Concept Antigens, CD36
Concept P-Selectin
Concept E-Selectin
Concept DNA Methylation
Concept Computational Biology
Concept Evidence-Based Medicine
Concept Area Under Curve
Concept Dietary Supplements
Concept Chemokines, CC
Concept Genetic Predisposition to Disease
Concept Interleukin-18
Concept Stroke
Concept CD40 Ligand
Concept Genomics
Concept Small Ubiquitin-Related Modifier Proteins
Concept MADS Domain Proteins
Concept Cation Transport Proteins
Concept beta Karyopherins
Concept TATA Box Binding Protein-Like Proteins
Concept Siblings
Concept Glycemic Index
Concept Integrin alpha1
Concept Integrin beta Chains
Concept Quantitative Trait Loci
Concept Vascular Endothelial Growth Factor C
Concept 1-Alkyl-2-acetylglycerophosphocholine Esterase
Concept Aryldialkylphosphatase
Concept alpha-Mannosidase
Concept Receptor, Cannabinoid, CB2
Concept Epigenesis, Genetic
Concept Population Groups
Concept Receptor, Serotonin, 5-HT2C
Concept Asian Continental Ancestry Group
Concept PPAR gamma
Concept Mitogen-Activated Protein Kinase 11
Concept Adaptor Proteins, Signal Transducing
Concept Cell Proliferation
Concept Systems Biology
Concept Body Size
Concept Insulin-Secreting Cells
Concept Regulatory Elements, Transcriptional
Concept Cyclin-Dependent Kinase Inhibitor p18
Concept Proto-Oncogene Proteins c-ets
Concept Protein Inhibitors of Activated STAT
Concept MafB Transcription Factor
Concept Hepatocyte Nuclear Factor 1-alpha
Concept Hepatocyte Nuclear Factor 3-alpha
Concept Hepatocyte Nuclear Factor 3-beta
Concept KCNQ1 Potassium Channel
Concept ADAM Proteins
Concept Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Concept TCF Transcription Factors
Concept Phospholipase C gamma
Concept Transcription Factor RelA
Concept Adiponectin
Concept Resistin
Concept Nitric Oxide Synthase Type III
Concept Osteoprotegerin
Concept Apolipoprotein B-100
Concept Death Domain Receptor Signaling Adaptor Proteins
Concept CARD Signaling Adaptor Proteins
Concept Cholestanetriol 26-Monooxygenase
Concept Phospholipases A2
Concept Dual-Specificity Phosphatases
Concept Mitogen-Activated Protein Kinase Phosphatases
Concept Genome-Wide Association Study
Concept Mucin-5B
Concept Metabolomics
Concept Insulin Receptor Substrate Proteins
Concept snRNP Core Proteins
Concept SOX9 Transcription Factor
Concept Genetic Loci
Concept DNA Copy Number Variations
Concept Precision Medicine
Concept HEK293 Cells
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Concept Asymptomatic Diseases
Concept Transcription Factor 7-Like 2 Protein
Concept Molecular Sequence Annotation
Concept Mutation Rate
Concept ATP Binding Cassette Transporter 1
Concept MEF2 Transcription Factors
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Academic Article Stenosis of a portacaval anastomosis affects circadian locomotor activity in the rat: a multivariable analysis.
Academic Article Diurnal variation of serum alanine transaminase activity in chronic liver disease.
Academic Article Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.
Academic Article Multipoint linkage analysis of the pseudoautosomal regions, using affected sibling pairs.
Academic Article Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size.
Academic Article A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.
Academic Article Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness.
Academic Article On the detection of linkage in multiple data sets: a comparison of various statistical approaches.
Academic Article Exo-proofreading, a versatile SNP scoring technology.
Academic Article Mapping complex traits using Random Forests.
Academic Article The insulin gene variable number tandem repeat and risk of type 2 diabetes in a population-based sample of families and unrelated men and women.
Academic Article Identifying SNPs predictive of phenotype using random forests.
Academic Article Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios.
Academic Article Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21.
Academic Article Comparisons of case-selection approaches based on allele sharing and/or disease severity index: application to the GAW14 simulated data.
Academic Article Identification of polymorphisms explaining a linkage signal: application to the GAW14 simulated data.
Academic Article Genome scan of systemic biomarkers of vascular inflammation in the Framingham Heart Study: evidence for susceptibility loci on 1q.
Academic Article PAI-1 Gene 4G/5G polymorphism and risk of type 2 diabetes in a population-based sample.
Academic Article Proximal hip geometry is linked to several chromosomal regions: genome-wide linkage results from the Framingham Osteoporosis Study.
Academic Article The type 2 deiodinase (DIO2) A/G polymorphism is not associated with glycemic traits: the Framingham Heart Study.
Academic Article Poor performance of bootstrap confidence intervals for the location of a quantitative trait locus.
Academic Article Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men.
Academic Article Interpreting results of large-scale genetic association studies: separating gold from fool's gold.
Academic Article Clinical and genetic correlates of soluble P-selectin in the community.
Academic Article Genetic and non-genetic correlates of vitamins K and D.
Academic Article Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4.
Academic Article Effect of linkage disequilibrium between markers in linkage and association analyses.
Academic Article Bivariate linkage study of proximal hip geometry and body size indices: the Framingham study.
Academic Article A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets.
Academic Article The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.
Academic Article Genome-wide association with select biomarker traits in the Framingham Heart Study.
Academic Article Genome-wide association with bone mass and geometry in the Framingham Heart Study.
Academic Article Genome-wide association with diabetes-related traits in the Framingham Heart Study.
Academic Article Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
Academic Article Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.
Academic Article A unified framework for linkage and association analysis of quantitative traits.
Academic Article Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
Academic Article Relations of inflammatory biomarkers and common genetic variants with arterial stiffness and wave reflection.
Academic Article Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
Academic Article Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study.
Academic Article Common variants at 30 loci contribute to polygenic dyslipidemia.
Academic Article Variants in MTNR1B influence fasting glucose levels.
Academic Article Clinical correlates, heritability, and genetic linkage of circulating CD40 ligand in the Framingham Offspring Study.
Academic Article Association of variants in RETN with plasma resistin levels and diabetes-related traits in the Framingham Offspring Study.
Academic Article Clinical and genetic factors associated with lipoprotein-associated phospholipase A2 in the Framingham Heart Study.
Academic Article Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation.
Academic Article Variants in the CNR1 and the FAAH genes and adiposity traits in the community.
Academic Article Mapping quantitative traits in unselected families: algorithms and examples.
Academic Article Genetic Analysis Workshop 15: gene expression analysis and approaches to detecting multiple functional loci.
Academic Article Handling linkage disequilibrium in linkage analysis using dense single-nucleotide polymorphisms.
Academic Article Joint modeling of linkage and association using affected sib-pair data.
Academic Article Ordered stratification to reduce heterogeneity in linkage to diabetes-related quantitative traits.
Academic Article Genotype score in addition to common risk factors for prediction of type 2 diabetes.
Academic Article Selection of the most informative individuals from families with multiple siblings for association studies.
Academic Article TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study.
Academic Article NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
Academic Article Evaluation of approaches to identify associated SNPs that explain the linkage evidence in nuclear families with affected siblings.
Academic Article A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
Academic Article Genome-wide association and linkage analysis of quantitative traits: comparison of likelihood-ratio test and conditional score statistic.
Academic Article Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies.
Academic Article Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.
Academic Article Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Academic Article New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Academic Article Handling linkage disequilibrium in qualitative trait linkage analysis using dense SNPs: a two-step strategy.
Academic Article The relation of genetic and environmental factors to systemic inflammatory biomarker concentrations.
Academic Article Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflammatory mediators.
Academic Article Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe.
Academic Article Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
Academic Article Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.
Academic Article Racial/ethnic differences in association of fasting glucose-associated genomic loci with fasting glucose, HOMA-B, and impaired fasting glucose in the U.S. adult population.
Academic Article Common variants at 10 genomic loci influence hemoglobin A1(C) levels via glycemic and nonglycemic pathways.
Academic Article Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.
Academic Article Meta-analysis of gene-environment interaction: joint estimation of SNP and SNP × environment regression coefficients.
Academic Article Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes.
Academic Article Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Academic Article Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Academic Article Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.
Academic Article Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
Academic Article Evaluation of methods accounting for population structure with pedigree data and continuous outcomes.
Academic Article Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis.
Academic Article Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Academic Article Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
Academic Article Association of variation at the ABO locus with circulating levels of soluble intercellular adhesion molecule-1, soluble P-selectin, and soluble E-selectin: a meta-analysis.
Academic Article Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
Academic Article Variants at the endocannabinoid receptor CB1 gene (CNR1) and insulin sensitivity, type 2 diabetes, and coronary heart disease.
Academic Article Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States.
Academic Article Atrial fibrillation: current knowledge and future directions in epidemiology and genomics.
Academic Article A genome-wide association search for type 2 diabetes genes in African Americans.
Academic Article Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Academic Article Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).
Academic Article A method of moments estimator for random effect multivariate meta-analysis.
Academic Article Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
Academic Article Impact of common variation in bone-related genes on type 2 diabetes and related traits.
Academic Article A comparison of gene region simulation methods.
Academic Article Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
Academic Article Comparison of statistical approaches to rare variant analysis for quantitative traits.
Academic Article Using linkage analysis of large pedigrees to guide association analyses.
Academic Article No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels.
Academic Article A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Academic Article Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Academic Article Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Academic Article Transferability and fine-mapping of glucose and insulin quantitative trait loci across populations: CARe, the Candidate Gene Association Resource.
Academic Article Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.
Academic Article Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
Academic Article Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems.
Academic Article Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts.
Academic Article Lack of interaction of beta-cell-function-associated variants with hypertension on change in fasting glucose and diabetes risk: the Framingham Offspring Study.
Academic Article Network-guided sparse regression modeling for detection of gene-by-gene interactions.
Academic Article MUC5B promoter polymorphism and interstitial lung abnormalities.
Academic Article Transferability and fine mapping of type 2 diabetes loci in African Americans: the Candidate Gene Association Resource Plus Study.
Academic Article Sequence kernel association test for quantitative traits in family samples.
Academic Article Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
Academic Article Association testing of the mitochondrial genome using pedigree data.
Academic Article Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts.
Academic Article Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Academic Article Common variants in and near IRS1 and subclinical cardiovascular disease in the Framingham Heart Study.
Academic Article Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes.
Academic Article Correction for multiple testing in a gene region.
Academic Article Application of linear mixed-effect models for the analysis of exam scores: Online video associated with higher scores for undergraduate students with lower grades
Academic Article United states research published in major surgical journals is decreasing.
Academic Article Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans.
Academic Article Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.
Academic Article Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.
Academic Article Whole blood gene expression and interleukin-6 levels.
Academic Article Genome-wide association analysis identifies six new loci associated with forced vital capacity.
Academic Article Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic Article ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic Article Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic Article Pleiotropic genes for metabolic syndrome and inflammation.
Academic Article Performance of statistical methods on CHARGE targeted sequencing data.
Academic Article Metabolic factors and genetic risk mediate familial type 2 diabetes risk in the Framingham Heart Study.
Academic Article Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Academic Article Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Academic Article Normal thymus in adults: appearance on CT and associations with age, sex, BMI and smoking.
Academic Article Modeling gene-covariate interactions in sparse regression with group structure for genome-wide association studies.
Academic Article Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Academic Article Polygenic type 2 diabetes prediction at the limit of common variant detection.
Academic Article Sequence kernel association test for survival traits.
Academic Article Whole blood gene expression and atrial fibrillation: the Framingham Heart Study.
Academic Article A low-frequency variant in MAPK14 provides mechanistic evidence of a link with myeloperoxidase: a prognostic cardiovascular risk marker.
Academic Article Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
Academic Article Rare genetic variant analysis on blood pressure in related samples.
Academic Article Paraseptal emphysema: Prevalence and distribution on CT and association with interstitial lung abnormalities.
Academic Article Association of a 62 Variants Type 2 Diabetes Genetic Risk Score With Markers of Subclinical Atherosclerosis: A Transethnic, Multicenter Study.
Academic Article Association of 25-Hydroxyvitamin D status and genetic variation in the vitamin D metabolic pathway with FEV1 in the Framingham Heart Study.
Academic Article Directional dominance on stature and cognition in diverse human populations.
Academic Article Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.
Academic Article Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.
Academic Article Incorporating gene-environment interaction in testing for association with rare genetic variants.
Academic Article Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
Academic Article Gene expression markers of age-related inflammation in two human cohorts.
Academic Article Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity.
Academic Article Revisiting heritability accounting for shared environmental effects and maternal inheritance.
Academic Article Anterior Mediastinal Masses in the Framingham Heart Study: Prevalence and CT Image Characteristics.
Academic Article General Framework for Meta-Analysis of Haplotype Association Tests.
Academic Article Evaluation of a Two-Stage Approach in Trans-Ethnic Meta-Analysis in Genome-Wide Association Studies.
Academic Article Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
Academic Article Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women.
Academic Article Assessing Rare Variation in Complex Traits Design and Analysis of Genetic StudiesEditors: Eleftheria Zeggini and Andrew Morris
Academic Article Genome-wide gene-environment interactions on quantitative traits using family data.
Academic Article The genetic architecture of type 2 diabetes.
Academic Article The Genetics of Type 2 Diabetes and Related TraitsBiology, Physiology and Translation. Editor: Florez JC
Academic Article Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Academic Article Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases.
Academic Article Development and Progression of Interstitial Lung Abnormalities in the Framingham Heart Study.
Academic Article Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin.
Academic Article Joint association analysis of a binary and a quantitative trait in family samples.
Academic Article Pulmonary cysts identified on chest CT: are they part of aging change or of clinical significance?
Academic Article A comparison of visual and quantitative methods to identify interstitial lung abnormalities.
Academic Article Association Between Interstitial Lung Abnormalities and All-Cause Mortality.
Academic Article Type 2 Diabetes Genetic Predisposition, Obesity, and All-Cause Mortality Risk in the U.S.: A Multiethnic Analysis.
Academic Article Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.
Academic Article Robust analysis of secondary phenotypes in case-control genetic association studies.
Academic Article A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.
Academic Article Association of the IGF1 gene with fasting insulin levels.
Academic Article Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations.
Academic Article Evidence for large-scale gene-by-smoking interaction effects on pulmonary function.
Academic Article Incident Type 2 Diabetes Risk is Influenced by Obesity and Diabetes in Social Contacts: a Social Network Analysis.
Academic Article Comparison of multiple single-nucleotide variant association tests in a meta-analysis of Genetic Analysis Workshop 19 family and unrelated data.
Academic Article Meta-Analysis for Penalized Regression Methods with Multi-Cohort Genome-Wide Association Studies.
Academic Article Molecular Characterization of the NLRC4 Expression in Relation to Interleukin-18 Levels.
Academic Article Integrative pathway genomics of lung function and airflow obstruction.
Academic Article Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke.
Academic Article Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.
Academic Article Galectin-3 Is Associated with Restrictive Lung Disease and Interstitial Lung Abnormalities.
Academic Article DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases.
Academic Article Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study
Academic Article Structured mating: Patterns and implications.
Academic Article Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.
Academic Article Evaluation of logistic regression models and effect of covariates for case-control study in RNA-Seq analysis.
Academic Article A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Academic Article Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.
Academic Article Genome-wide association study of subclinical interstitial lung disease in MESA.
Academic Article An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
Academic Article Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer''s disease.
Academic Article Pleural abnormalities in the Framingham Heart Study: prevalence and CT image features.
Academic Article Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.
Academic Article MicroRNA Signature of Cigarette Smoking and Evidence for a Putative Causal Role of MicroRNAs in Smoking-Related Inflammation and Target Organ Damage.
Academic Article Sugar-sweetened beverage intake associations with fasting glucose and insulin concentrations are not modified by selected genetic variants in a ChREBP-FGF21 pathway: a meta-analysis.
Academic Article Heritability of Atrial Fibrillation.
Academic Article Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation.
Academic Article Genetically Driven Hyperglycemia Increases Risk of Coronary Artery Disease Separately From Type 2 Diabetes.
Academic Article Whole genome sequence analyses of brain imaging measures in the Framingham Study.
Academic Article Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Academic Article Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Academic Article Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.
Academic Article Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
Academic Article Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Academic Article Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer''s Disease Sequencing Project.
Academic Article Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Academic Article Erratum. Polygenic Type 2 Diabetes Prediction at the Limit of Common Variant Detection. Diabetes 2014;63:2172-2182.
Academic Article Metabolomics insights into early type 2 diabetes pathogenesis and detection in individuals with normal fasting glucose.
Academic Article Epigenome-Wide Association Study of Soluble Tumor Necrosis Factor Receptor 2 Levels in the Framingham Heart Study.
Academic Article Genetics of Type 2 Diabetes and Related Traits (Florez J, ed.)
Academic Article Assessing Rare Variation in Complex Traits (Zeggini E, Moris A, eds.)
Academic Article Game Theory, Optimal Stopping, Probability and Statistics: Papers in Honor of Thomas S Ferguson (F Thomas Bruss, Lucien Le Cam, Eds.)
Academic Article Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer''s disease sequencing project.
Academic Article Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium.
Academic Article Heritability and genome-wide association study of diffusing capacity of the lung.
Academic Article Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.
Academic Article Whole exome sequencing study identifies novel rare and common Alzheimer''s-Associated variants involved in immune response and transcriptional regulation.
Academic Article Meta-analysis of exome array data identifies six novel genetic loci for lung function.
Academic Article Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association.
Academic Article Meta-analysis across Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium provides evidence for an association of serum vitamin D with pulmonary function.
Academic Article Investigation of parent-of-origin effects induced by fenofibrate treatment on triglycerides levels.
Academic Article Comparison of novel and existing methods for detecting differentially methylated regions.
Academic Article Evaluation of a phenotype imputation approach using GAW20 simulated data.
Academic Article Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.
Academic Article ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls.
Academic Article Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
Academic Article Increased Airway Wall Thickness in Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis.
Academic Article Mendelian Randomization Analysis of Hemoglobin A1c as a Risk Factor for Coronary Artery Disease.
Academic Article Comparison of methods for multivariate gene-based association tests for complex diseases using common variants.
Academic Article Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Academic Article An integrative cross-omics analysis of DNA methylation sites of glucose and insulin homeostasis.
Academic Article Beverage Consumption and Longitudinal Changes in Lipid Concentrations and Incident Dyslipidemia in U.S. Adults: The Framingham Heart Study (P18-017-19).
Academic Article Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals.
Academic Article Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis.
Academic Article Potential Interplay between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome to Modulate Insulin Resistance and Diabetes Risk: Insights from a Meta-Analysis of 19 005 Individuals.
Academic Article Epigenome-Wide Association Study of Incident Type 2 Diabetes in a British Population: EPIC-Norfolk Study.
Academic Article Childhood Tobacco Smoke Exposure and Risk of Atrial Fibrillation in Adulthood.
Academic Article Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program.
Academic Article Quality of dietary fat and genetic risk of type 2 diabetes: individual participant data meta-analysis.
Academic Article Correction: Whole exome sequencing study identifies novel rare and common Alzheimer''s-Associated variants involved in immune response and transcriptional regulation.
Academic Article Integrative Omics Approach to Identifying Genes Associated With Atrial Fibrillation.
Academic Article A unified method for rare variant analysis of gene-environment interactions.
Academic Article Adipocyte hyperplasia: the primary mechanism of supraspinatus intramuscular fat accumulation after a complete rotator cuff tendon tear: a study in the rabbit.
Academic Article Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts.
Academic Article Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions.
Academic Article Convex combination sequence kernel association test for rare-variant studies.
Academic Article Beverage Consumption and Longitudinal Changes in Lipoprotein Concentrations and Incident Dyslipidemia in US Adults: The Framingham Heart Study.
Academic Article Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose.
Academic Article Evaluation of population stratification adjustment using genome-wide or exonic variants.
Academic Article Associations of Omega-3 Fatty acids with Interstitial Lung Disease and Lung Imaging Abnormalities Among Adults.
Academic Article Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease.
Academic Article JEM: A joint test to estimate the effect of multiple genetic variants on DNA methylation.
Academic Article Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
Academic Article The Association of Aging Biomarkers, Interstitial Lung Abnormalities, and Mortality.
Grant TOPMed Omics of Cardiovascular Disease in Diabetes
Grant Common Genetic Variation and Quantitative Diabetes Traits
Grant VA241-16-D-0012 VA Master Contract Task Order 23
Grant Rare Sequence Variation and Diabetes Quantitative Traits
Grant Multiethnic Study of Type 2 Diabetes Genes
Grant TOPMed Whole Genome Sequence Analysis of Type 2 Diabetes and Related Traits

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