Author details

Full Name

Stephen S Rich

Affiliation

ORCID

Career Start Year

1979

Papers

774

H Index

110

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37649398	Genetic variants in the complement system and their potential link in the aetiology of type 1 diabetes.	Diabetes Metab Res Rev	2024
36721044	An integrated multi-omics analysis of sleep-disordered breathing traits implicates P2XR4 purinergic signaling.	Commun Biol	2023
36379261	Infertility and treatments used have minimal effects on first-trimester placental DNA methylation and gene expression.	Fertil Steril	2023
35777776	Associations of hiatus hernia with CT-based interstitial lung changes: the MESA Lung Study.	European Respiratory Journal	2023
37758901	Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes.	Commun Biol	2023
37848499	Multi-ancestry epigenome-wide analyses identify methylated sites associated with aortic augmentation index in TOPMed MESA.		2023
37756531	Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Incident Type 2 Diabetes Risk.	Diabetes Care	2023
37601969	Multiset correlation and factor analysis enables exploration of multi-omics data.	Cell Genom	2023
37601969	Multiset correlation and factor analysis enables exploration of multi-omics data.	Cell Genom	2023
38028628	Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.	Front Genet	2023
37841955	A Type 1 Diabetes Polygenic Score Is Not Associated With Prevalent Type 2 Diabetes in Large Population Studies.	J Endocr Soc	2023
37749248	Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.	Nat Genet	2023
37662416	Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies.	bioRxiv	2023
37662416	Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies.	bioRxiv	2023
37745480	Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium.	bioRxiv	2023
37745480	Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium.	bioRxiv	2023
37662265	WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.	medRxiv	2023
38014529	Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis.	Circ Genom Precis Med	2023
37923804	Identification of circulating proteins associated with general cognitive function among middle-aged and older adults.	Commun Biol	2023
37587153	Genome-wide association studies and fine-mapping identify genomic loci for n-3 and n-6 polyunsaturated fatty acids in Hispanic American and African American cohorts.	Commun Biol	2023
37582364	Protein-metabolite association studies identify novel proteomic determinants of metabolite levels in human plasma.	Cell Metab	2023
37582364	Protein-metabolite association studies identify novel proteomic determinants of metabolite levels in human plasma.	Cell Metab	2023
37905118	Determinants of mosaic chromosomal alteration fitness.	medRxiv	2023
37648373	Ancestral diversity in lipoprotein(a) studies helps address evidence gaps.	Open Heart	2023
37904051	Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.	Nat Genet	2023
37804200	Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk.	J Am Heart Assoc	2023
37802043	Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.	Am J Hum Genet	2023
37802043	Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.	Am J Hum Genet	2023
37794253	Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.	Nat Med	2023
37561710	Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portal.	PLoS Biol	2023
37777527	Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.	Nat Commun	2023
37961394	Lac-Phe mediates the anti-obesity effect of metformin.	bioRxiv	2023
37961350	A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies.	bioRxiv	2023
37869564	Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations.	HGG Adv	2023
37868038	The functional impact of rare variation across the regulatory cascade.	Cell Genom	2023
37868038	The functional impact of rare variation across the regulatory cascade.	Cell Genom	2023
37609271	The Relationship of Duffy Gene Polymorphism, High Sensitivity C-Reactive Protein, and Long-term Outcomes.	medRxiv	2023
37609271	The Relationship of Duffy Gene Polymorphism, High Sensitivity C-Reactive Protein, and Long-term Outcomes.	medRxiv	2023
37348055	Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.	Genetics	2023
37286633	Large scale proteomic studies create novel privacy considerations.	Sci Rep	2023
37286633	Large scale proteomic studies create novel privacy considerations.	Sci Rep	2023
37216410	Canonical correlation analysis for multi-omics: Application to cross-cohort analysis.	PLoS Genet	2023
37216410	Canonical correlation analysis for multi-omics: Application to cross-cohort analysis.	PLoS Genet	2023
37034649	Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.	medRxiv	2023
36778413	Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal.	bioRxiv	2023
36778406	Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.	bioRxiv	2023
36778386	Structural variation across 138,134 samples in the TOPMed consortium.	Res Sq	2023
36653033	Association of omega 3 polyunsaturated fatty acids with incident chronic kidney disease: pooled analysis of 19 cohorts.	BMJ	2023
36898736	Germline genetic variants are associated with development of insulin-dependent diabetes in cancer patients treated with immune checkpoint inhibitors.	J Immunother Cancer	2023
37466697	Associations between Ambient Air Pollutants and Clonal Hematopoiesis of Indeterminate Potential.	Cancer Epidemiol Biomarkers Prev	2023