Amy L. Roberts

Diminished sex hormone levels influence the risk of skewed X chromosome inactivation

The paper investigates the association between menopause and XCI-skew in females, finding early surgical menopause and low testosterone polygenic scores increase XCI-skew risk.

Genetic regulation of fatty acid content in adipose tissue

This study identifies genetic loci regulating fatty acid levels in adipose tissue and links them to metabolic and cardiovascular traits.

Somatic mutation and selection at epidemiological scale

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits

The paper identifies additional eQTL signals in adipose tissue and shows they contribute to cardiometabolic traits through gene dosage effects.

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

The paper identifies X-linked genes that escape X-inactivation in twins across tissues, showing variability between individuals and suggesting genetic and environmental influences.

Age acquired skewed X Chromosome Inactivation is associated with adverse health outcomes in humans

This study shows that age-related skewed X chromosome inactivation in females is linked to increased cardiovascular disease risk and cancer incidence.

ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

The paper examines the association between adipose tissue ACE2 expression and cardio-metabolic risk factors, finding lower ACE2 levels linked to T2D, obesity, and inflammation-related cell type changes.

Cell type specific genetic regulation of gene expression across human tissues

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

Genome-wide genetic risk for SLE and disease severity

This study evaluates genetic risk scores for predicting SLE susceptibility and severity using GWAS data from European and Chinese populations, finding moderate predictive performance and associations with renal disease and age of onset.

De Novo Mutations Implicate Novel Genes With Burden Of Rare Variants In Systemic Lupus Erythematosus

This study identifies de novo mutations and rare variant burdens in SLE candidate genes, supporting their role in disease pathogenesis.