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List of works by Stephen S Rich

A Genetic Risk Score Associated with Chronic Obstructive Pulmonary Disease Susceptibility and Lung Structure on Computed Tomography

scientific article published on 01 September 2019

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

scientific article published on 27 April 2018

A Genome-wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos.

scientific article published on 2 February 2018

A Review of Genetics, Arterial Stiffness, and Blood Pressure in African Americans ⬇️

scientific article published on April 11, 2012

A functional polymorphism in the lymphotoxin-alpha gene is associated with carotid artery wall thickness: the Diabetes Heart Study

scientific article published in August 2006

A genome scan for ESRD in black families enriched for nondiabetic nephropathy

scientific article published on 01 October 2004

A genome scan for all-cause end-stage renal disease in African Americans

scientific article published on 08 February 2005

A genome scan for diabetic nephropathy in African Americans

scientific article published on 01 October 2004

A genome scan for fasting insulin and fasting glucose identifies a quantitative trait locus on chromosome 17p: the insulin resistance atherosclerosis study (IRAS) family study.

scientific article published on January 2005

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

scientific article

A genome-wide association study of chronic obstructive pulmonary disease in Hispanics

scientific article

A genome-wide scan for type 2 diabetes in African-American families reveals evidence for a locus on chromosome 6q.

scientific article

A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study

scientific article published on 13 March 2003

A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma ⬇️

scientific article published on October 25, 2003

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

scientific article

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples

scientific article

A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans

scientific article

A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations

scientific article

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema

journal article published in 2014

Air pollution and percent emphysema identified by computed tomography in the Multi-Ethnic study of Atherosclerosis

scientific article

Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci

scientific article published on 17 February 2020

An Islet-Targeted Genome-Wide Association Scan Identifies Novel Genes Implicated in Cytokine-Mediated Islet Stress in Type 2 Diabetes

scientific article

An intergenic region on chromosome 13q33.3 is associated with the susceptibility to kidney disease in type 1 and 2 diabetes ⬇️

scientific article published on March 16, 2011

Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes

scientific article published on 24 August 2020

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

scientific article published on 07 May 2020

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

scientific article published on 24 April 2018

Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals

scientific article

Association of a 62 Variants Type 2 Diabetes Genetic Risk Score With Markers of Subclinical Atherosclerosis: A Transethnic, Multicenter Study.

scientific article

Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetes

scientific article

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

scientific article

Association of low-density lipoprotein cholesterol-related genetic variants with aortic valve calcium and incident aortic stenosis

scientific article

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

scientific article

Association of protein tyrosine phosphatase 1B gene polymorphisms with type 2 diabetes

scientific article published in November 2004

Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart Study.

scientific article published in March 2006

Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy

scientific article published on 09 January 2008

Association of the estrogen receptor-alpha gene with the metabolic syndrome and its component traits in African-American families: the Insulin Resistance Atherosclerosis Family Study

scientific article published on 18 May 2007

Association of the mu-opioid receptor gene with type 2 diabetes mellitus in an African American population

scientific article published on 2 September 2005

Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population

scientific article

Association of the tissue kallikrein gene promoter with ESRD and hypertension

scientific article published on 01 March 2002

Association of α2-Heremans-Schmid Glycoprotein Polymorphisms with Subclinical Atherosclerosis

scientific article published on 24 October 2006

Associations between NOS1AP Single Nucleotide Polymorphisms (SNPs) and QT Interval Duration in Four Racial/Ethnic Groups in the Multi‐Ethnic Study of Atherosclerosis (MESA) ⬇️

scientific article published on January 1, 2013

Associations between adherence to the dietary approaches to stop hypertension (DASH) diet and six glucose homeostasis traits in the Microbiome and Insulin Longitudinal Evaluation Study (MILES)

scientific article published in 2022

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Autoantibodies Directed Toward a Novel IA-2 Variant Protein Enhance Prediction of Type 1 Diabetes

scientific article published on 05 June 2019

Benchmarking association analyses of continuous exposures with RNA-seq in observational studies

scientific article published on 01 November 2021

Big Topics for DIabetes Care in 2018: Clinical Guidelines, Costs of Diabetes, and Information Technology

scientific article published on 01 July 2018

Biomarkers of dairy fatty acids and risk of cardiovascular disease in the Multi-ethnic Study of Atherosclerosis

scientific article

Blood monocyte transcriptome and epigenome analyses reveal loci associated with human atherosclerosis

scientific article published on 30 August 2017

B‐cell epitopes recognized by IgE from patients sensitive to Amb a 5 ⬇️

scientific article published on 01 October 1997

Calcified atherosclerotic plaque and bone mineral density in type 2 diabetes: the diabetes heart study

scientific article

Candidate gene association resource (CARe): design, methods, and proof of concept

scientific article

Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy

scientific article

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

Clonal hematopoiesis associated with epigenetic aging and clinical outcomes

scientific article published on 29 May 2021

Coincident Linkage of Type 2 Diabetes, Metabolic Syndrome, and Measures of Cardiovascular Disease in a Genome Scan of the Diabetes Heart Study

scientific article published on 01 July 2006

Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction

scientific article published on 01 May 2018

Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis

scientific article

Common genetic variation, residential proximity to traffic exposure, and left ventricular mass: the Multi-Ethnic Study of Atherosclerosis

journal article published in 2010

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population

scientific article

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on November 2016

DNA Methylation of the Aryl Hydrocarbon Receptor Repressor Associations With Cigarette Smoking and Subclinical Atherosclerosis

scientific article

DNA Structural Variants as Genetic Risk Factors for the Long QT Syndrome ⬇️

scientific article published on 01 January 2011

DRw52-group haplotypes are frequent acceptors of DRw15-Dw2 DQ genes in DQA1-DRB1 recombination

scientific article published on 01 January 1992

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

scientific article

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

scientific article

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

scientific article

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

scientific article

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

scientific article published on 01 February 2019

Dietary fatty acids modulate associations between genetic variants and circulating fatty acids in plasma and erythrocyte membranes: Meta-analysis of nine studies in the CHARGE consortium

scientific article

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

scientific article

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

scientific article published on 24 August 2020

Early Progression of Diabetic Nephropathy Correlates With Methylglyoxal-Derived Advanced Glycation End Products ⬇️

scientific article published on June 18, 2013

Environmental factors can confound identification of a major gene effect: Results from a segregation analysis of a simulated population of lung cancer families ⬇️

scientific article published on 01 January 1998

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP9) gene in ESRD patients

scientific article published on 01 July 2003

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

scientific article

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing in suspected monogenic dyslipidemias

scientific article

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

scientific article published on 30 October 2017

Familial Clustering of Insulin Sensitivity ⬇️

scientific article published on July 1, 1992

Familial cerebral cavernous angioma: Clinical analysis of a family and phenotypic classification ⬇️

scientific article published on May 1, 1995

Familial ureteral abnormalities syndrome: genomic mapping, clinical findings ⬇️

scientific article published on 01 June 1998

Family-Based Association Analysis Confirms the Role of the Chromosome 9q21.32 Locus in the Susceptibility of Diabetic Nephropathy ⬇️

scientific article published on March 29, 2013

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

scientific article

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

scientific article

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

scientific article published on 14 June 2021

Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases

scientific article

GENOME-WIDE INTERACTION WITH SELECTED TYPE 2 DIABETES LOCI REVEALS NOVEL LOCI FOR TYPE 2 DIABETES IN AFRICAN AMERICANS.

scientific article

Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry

scientific article

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations

scientific article

Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families

scientific article published on 17 January 2019

Genetic Initiation of Hypertensive and Diabetic Nephropathy ⬇️

scientific article published on February 1, 1998

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium

scientific article

Genetic analysis of atopy in three large kindreds: no evidence of linkage to D11S97

scientific article published on 01 December 1992

Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes

scientific article

Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study

scientific article

Genetic ancestry and the relationship of cigarette smoking to lung function and per cent emphysema in four race/ethnic groups: a cross-sectional study

scientific article

Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans

scientific article

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methods

scientific article published in April 2003

Genetic loci associated with circulating levels of very long-chain saturated fatty acids

scientific article

Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium

scientific article

Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium

scientific article

Genetic mapping of disposition index and acute insulin response loci on chromosome 11q. The Insulin Resistance Atherosclerosis Study (IRAS) Family Study

scientific article published in April 2006

Genetic susceptibility contributes to renal and cardiovascular complications of type 2 diabetes mellitus

scientific article

Genetic susceptibility to ischemic stroke ⬇️

scientific article published on May 31, 2011

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on 18 April 2016

Genetic variation at 16q24.2 is associated with small vessel stroke

scientific article

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

scientific article

Genome-Wide Interaction with Insulin Secretion Loci Reveals Novel Loci for Type 2 Diabetes in African Americans

scientific article

Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation

scientific article published on 02 December 2021

Genome-wide association analysis identifies six new loci associated with forced vital capacity

scientific article

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

scientific article

Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.

scientific article

Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes

scientific article

Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction

scientific article

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

scientific article

Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology [...]

scientific article

Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

scientific article published on 17 January 2018

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project

scientific article

Genome-wide association study of subclinical interstitial lung disease in MESA.

scientific article

Genome-wide interaction with the insulin secretion locus MTNR1B reveals CMIP as a novel type 2 diabetes susceptibility gene in African Americans.

scientific article

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function

scientific article

Genome-wide linkage scans for type 2 diabetes mellitus in four ethnically diverse populations-significant evidence for linkage on chromosome 4q in African Americans: the Family Investigation of Nephropathy and Diabetes Research Group

scientific 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

scientific article published on 09 July 2018

Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND).

scientific article

Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND).

scientific 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

journal article published in 2014

HLA class II "typing": direct sequencing of DRB, DQB, and DQA genes

scientific article published on February 1, 1992

Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants

scientific article

Heritability and expression of C-reactive protein in type 2 diabetes in the Diabetes Heart Study

scientific article published on November 2006

Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitus

scientific article published on 01 May 2004

Heritability of carotid artery intima-medial thickness in type 2 diabetes

scientific article published in July 2002

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

Human airway branch variation and chronic obstructive pulmonary disease

scientific article published on 16 January 2018

Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study

scientific article

Identification of Human Plasma Kallikrein Gene Polymorphisms and Evaluation of Their Role in End-Stage Renal Disease ⬇️

scientific article published on April 1, 1998

Identification of quantitative trait loci for glucose homeostasis: the Insulin Resistance Atherosclerosis Study (IRAS) Family Study

scientific article

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

Impact of Amerind ancestry and FADS genetic variation on omega-3 deficiency and cardiometabolic traits in Hispanic populations

scientific article published in 2021

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.

scientific article published on 12 September 2017

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

scientific article published on 14 October 2020

Insulin dependent diabetic families: sex ratio and HLA haplotype segregation ⬇️

scientific article published on February 14, 1981

Insulin sensitivity and insulin clearance are heritable and have strong genetic correlation in Mexican Americans

scientific article

Interaction of methylation-related genetic variants with circulating fatty acids on plasma lipids: a meta-analysis of 7 studies and methylation analysis of 3 studies in the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium

scientific article

Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations

scientific article published on 01 March 2007

Keloids and End-Stage Renal Disease ⬇️

scientific article published on 01 October 1998

Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

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

scientific article

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

scientific article

Linkage heterogeneity of end-stage renal disease on human chromosome 10

scientific article published on 01 September 2002

Linkage of an Alzheimer disease susceptibility locus to markers on human chromosome 21 ⬇️

scientific article published on September 15, 1991

Linkage of the metabolic syndrome to 1q23-q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family Study

scientific article published on April 2004

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

Mendelian randomization of blood lipids for coronary heart disease

scientific article

Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy

scientific article published on 28 April 2021

Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans

scientific 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

scientific article published on 12 September 2018

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

scientific article

Meta-analysis of exome array data identifies six novel genetic loci for lung function

scientific article published on 12 January 2018

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes

scientific article

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

scientific article

Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs

scientific article

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration

scientific article published on 12 November 2019

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

scientific article published in Nature Communications

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

scientific article published in 2021

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project

scientific article

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

scientific article published on 22 December 2017

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function

scientific article published in Nature Communications

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

scientific article

Nephropathy in siblings of African Americans with overt type 2 diabetic nephropathy

scientific article published in September 2002

Next steps in the identification of gene targets for type 1 diabetes

scientific article published on 14 August 2020

Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association

scientific article published on 01 March 2019

Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis

scientific article published on 01 December 2019

P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study

scientific article published in August 2005

Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network

scientific article

Pericardial and Visceral Adipose Tissues Measured Volumetrically With Computed Tomography Are Highly Associated in Type 2 Diabetic Families

scientific article published on 01 February 2005

Plasma Soluble Receptor for Advanced Glycation End Products in Idiopathic Pulmonary Fibrosis

scientific article

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

scientific article

Population structure of Hispanics in the United States: the multi-ethnic study of atherosclerosis

scientific article

Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

scientific article published on 01 July 2020

Prediction of the development of islet autoantibodies through integration of environmental, genetic, and metabolic markers

scientific article published on 22 July 2020

Prevalence of nephropathy in black patients with type 2 diabetes mellitus

scientific article published in January 2002

Proceedings of the Genetic Analysis Workshop 13: analysis of longitudinal family data for complex diseases and related risk factors. November 11-14, 2002. New Orleans, Louisiana, USA

article

Protocol for genetic testing in Huntington disease: Three years of experience in Minnesota ⬇️

scientific article published on September 15, 1991

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published in Nature Communications

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

scientific article published on 01 July 2019

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Relationship between albuminuria and cardiovascular disease in Type 2 diabetes

scientific article published on 4 May 2005

Risk of Recurrent Seizures after Two Unprovoked Seizures ⬇️

scientific article published on February 12, 1998

Robust relationship inference in genome-wide association studies ⬇️

scientific article published on October 5, 2010

Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level

scientific article published on 24 October 2019

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

scientific article

Serology, restriction fragment length polymorphism, and sequence analysis of a unique HLA class II antigen, DR5x6 ⬇️

scientific article published on March 1, 1991

Shared genetic susceptibility of Type 1 (insulin-dependent) and Type 2 (non-insulin-dependent) diabetes mellitus: contributions of HLA and haptoglobin ⬇️

scientific article published on May 1, 1991

Single nucleotide polymorphisms in the apolipoprotein M gene are associated with percent emphysema, HDL and HDL subfractions among European- And African-Americans: the MESA Lung and SNP Health Association Resource (SHARe) studies

abstract published in 2012

Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes

scientific 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

scientific article published on 2 November 2017

T-786C polymorphism of the endothelial nitric oxide synthase gene is associated with albuminuria in the diabetes heart study

scientific article published on 2 March 2005

The Genetic Landscape of Renal Complications in Type 1 Diabetes

scientific article

The Polygenic and Monogenic Basis of Blood Traits and Diseases

scientific article published on 01 September 2020

The Promise and Practice of Genetics on Diabetes Care: The Fog Rises to Reveal a Field of Genetic Complexity in HNF1B.

scientific article published in November 2017

The impact of pedigree structure on heritability estimates for pulse pressure in three studies

scientific article published on 08 September 2005

The landscape of recombination in African Americans

scientific article

Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin

scientific article

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

scientific article published on 01 September 2020

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

scientific article published in Nature Communications

Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations

scientific article published in 2021

Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score

scientific article published on 18 January 2019

Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis

scientific article published in December 2023

Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study

scientific article published on 27 January 2022

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

scientific article published on 23 December 2019

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

scientific article

Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship.

scientific article

Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)

article

Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy

scientific article

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

scientific article published on 14 October 2020

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

scientific article

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

scientific article

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