List of works - Stephen S Rich

Discovery and refinement of loci associated with lipid levels

scientific article

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

scientific article

Robust relationship inference in genome-wide association studies

scientific article published on October 5, 2010

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

scientific article

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

scientific article published on 18 June 2014

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

scientific article

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

scientific article

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

scientific article published on 18 April 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article

The landscape of recombination in African Americans

scientific article

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

scientific article

Mendelian randomization of blood lipids for coronary heart disease

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

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

scientific article

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

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

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

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

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

scientific article

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

scientific article

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

scientific article

Risk of Recurrent Seizures after Two Unprovoked Seizures

scientific article published on February 12, 1998

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

scientific article published on 30 October 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in April 2003

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

scientific article

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

scientific article

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

scientific article published in July 2002

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

scientific article

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

A genome scan for diabetic nephropathy in African Americans

scientific article published on 01 October 2004

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

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

scientific article

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

scientific article

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

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

scientific article published on 22 December 2017

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

scientific article published on 9 April 2018

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

scientific article

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

scientific article

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

scientific article

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

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

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

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

List of works by Stephen S Rich

Discovery and refinement of loci associated with lipid levels

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

Robust relationship inference in genome-wide association studies

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

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

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

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

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

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

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

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

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

The landscape of recombination in African Americans

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

Mendelian randomization of blood lipids for coronary heart disease

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

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

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

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

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

Inactivating mutations in NPC1L1 and protection from coronary heart disease

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

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

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

Risk of Recurrent Seizures after Two Unprovoked Seizures

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

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

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

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

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

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

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

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

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

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

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

A genome scan for diabetic nephropathy in African Americans

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.

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

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

Directional dominance on stature and cognition in diverse human populations

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

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

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

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

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

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

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

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

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