User profiles for Stephen S Rich

Stephen S Rich

Professor & Director, Center for Public Health Genomics, University of Virginia
Verified email at virginia.edu
Cited by 85833

Genetics of type 1A diabetes

P Concannon, SS Rich, GT Nepom - New England Journal of …, 2009 - Mass Medical Soc
Genetic contributions to the cause of type 1 diabetes have been studied for more than 30
years, but only recently, with modern genetic tools, has the importance of seemingly minor …

Mapping genes in diabetes: genetic epidemiological perspective

SS Rich - Diabetes, 1990 - Am Diabetes Assoc
Research on mapping diabetes-susceptibility genes is dependent on several factors,
including the existence of a single major gene for susceptibility, genetic homogeneity, and the …

[HTML][HTML] Genetics of type 1 diabetes: what's next?

…, C Julier, G Morahan, CR Nierras, JA Todd, SS Rich… - Diabetes, 2010 - ncbi.nlm.nih.gov
The discovery of the association between HLA in the major histocompatibility complex (MHC)
on chromosome 6p21 with type 1 diabetes, but not with type 2 diabetes, suggested that …

Robust relationship inference in genome-wide association studies

A Manichaikul, JC Mychaleckyj, SS Rich, K Daly… - …, 2010 - academic.oup.com
Motivation: Genome-wide association studies (GWASs) have been widely used to map loci
contributing to variation in complex traits and risk of diseases in humans. Accurate …

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

…, DJ Smyth, H Stevens, JA Todd, NM Walker, SS Rich… - Nature …, 2009 - nature.com
Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of
multiple genetic and environmental risk factors. We report the findings of a genome-wide …

[HTML][HTML] A structural variation reference for medical and population genetics

…, E Lander, S Gabriel, BM Neale, S Kathiresan… - Nature, 2020 - nature.com
Structural variants (SVs) rearrange large segments of DNA 1 and can have profound
consequences in evolution and human disease 2 , 3 . As national biobanks, disease-association …

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

…, G Thorleifsson, U Thorsteinsdottir, S Tiedt, S Trompet… - Nature …, 2018 - nature.com
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …

Gut microbiomes of Malawian twin pairs discordant for kwashiorkor

…, I Trehan, R Mkakosya, J Cheng, AL Kau, SS Rich… - Science, 2013 - science.org
Kwashiorkor, an enigmatic form of severe acute malnutrition, is the consequence of inadequate
nutrient intake plus additional environmental insults. To investigate the role of the gut …

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

…, S Potter, C Ribes-Koninckx, I Ricaño-Ponce, SS Rich… - Nature …, 2011 - nature.com
Using variants from the 1000 Genomes Project pilot European CEU dataset and data from
additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously …

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

…, CJ O'Donnell, D Altshuler, S Gabriel, S Kathiresan - Nature, 2015 - nature.com
Myocardial infarction (MI), a leading cause of death around the world, displays a complex
pattern of inheritance 1 , 2 . When MI occurs early in life, genetic inheritance is a major …