User profiles for Stephen S Rich
Stephen S RichProfessor & 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 …
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 …
including the existence of a single major gene for susceptibility, genetic homogeneity, and the …
[HTML][HTML] Genetics of type 1 diabetes: what's next?
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 …
on chromosome 6p21 with type 1 diabetes, but not with type 2 diabetes, suggested that …
Robust relationship inference in genome-wide association studies
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 …
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
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 …
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 …
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
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 …
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
Gut microbiomes of Malawian twin pairs discordant for kwashiorkor
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 …
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 …
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
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 …
pattern of inheritance 1 , 2 . When MI occurs early in life, genetic inheritance is a major …