User profiles for Eric R. Gamazon

Eric R. Gamazon

Vanderbilt University School of Medicine; Clare Hall, University of Cambridge; University of …
Verified email at vanderbilt.edu
Cited by 44806

[HTML][HTML] The genotype-tissue expression (GTEx) project

…, J Liu, J Zhu, Z Tu, NJ Cox, DL Nicolae, ER Gamazon… - Nature …, 2013 - nature.com
Genome-wide association studies have identified thousands of loci for common diseases,
but, for the majority of these, the mechanisms underlying disease susceptibility remain …

The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

…, R Guigó, MI McCarthy, ET Dermitzakis, ER Gamazon… - Science, 2015 - science.org
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

A gene-based association method for mapping traits using reference transcriptome data

ER Gamazon, HE Wheeler, KP Shah, SV Mozaffari… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) have identified thousands of variants robustly
associated with complex traits. However, the biological mechanisms underlying these …

Obesity-associated variants within FTO form long-range functional connections with IRX3

S Smemo, JJ Tena, KH Kim, ER Gamazon, NJ Sakabe… - Nature, 2014 - nature.com
Genome-wide association studies (GWAS) have reproducibly associated variants within
introns of FTO with increased risk for obesity and type 2 diabetes (T2D) 1 , 2 , 3 . Although the …

The genetic architecture of type 2 diabetes

…, N Grarup, HM Stringham, ER Gamazon… - Nature, 2016 - nature.com
The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

Mapping the proteo-genomic convergence of human diseases

…, W Arlt, S O'Rahilly, G Kastenmüller, ER Gamazon… - Science, 2021 - science.org
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …

[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

…, GD Smith, HK Finucane, L Franke, ER Gamazon… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic
loci across a range of human diseases and traits. However, most biobanks are primarily …

Genome-wide association study of obsessive-compulsive disorder

…, PD Arnold, PD Evans, ER Gamazon… - Molecular …, 2013 - nature.com
Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness
with complex genetic etiology. The International OCD Foundation Genetics Collaborative (…

The impact of sex on gene expression across human tissues

…, P Evans, ER Gamazon, A Payne, R Bonazzola… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-differentiated
characteristics. These sex differences have been variously attributed to hormones, …

Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation

ER Gamazon, AV Segrè, M Van De Bunt, X Wen… - Nature …, 2018 - nature.com
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from
the Genotype-Tissue Expression project and genome-wide association study data. About …