Kerrin S. Small

ReCap enables redox proteomics by preserving redox states and scaling oxidation to protein copy numbers, revealing sparse and quantitatively concentrated cysteine oxidation signals.

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.

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

This study uses sperm sequencing to show that positive selection in the male germline leads to a higher risk of disease-causing mutations in offspring.

The paper identifies DNA methylation and gene expression changes in human blood after a meal, linking them to cardiometabolic health and obesity-related genes.

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.

The paper uses long-read sperm sequencing to analyze non-crossover recombination events, finding variation in recombination rates and distinct mechanisms for non-crossover gene conversions.

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

This study maps postzygotic mutations across tissues and lifespan, showing their functional variation and selection pressures, suggesting multiple dynamic genomes per individual.

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

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

The paper shows that a significant portion of gene expression regulation in the human brain occurs post-transcriptionally in the cytoplasm, particularly for synaptic genes.

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.

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

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.

The paper introduces ExHiBITT, a colon multiomic cohort study of twins, describing its characteristics and initial findings on polyps, diverticulosis, and their associations with BMI and age.

This study quantifies XCI skewing in female twins across tissues, showing age- and tissue-specific heritability and associations with smoking in older females.

The paper investigates cell-type heterogeneity in adipose tissue, identifies cell-specific eQTLs, and shows how cell composition affects genetic associations with complex traits.

ERASE assesses enrichment of GWAS risk loci in ASE data and identifies splicing-related ASEs associated with Parkinson's disease.

This study identifies DNA methylation changes in blood and tissue samples associated with periodontal disease in older female twins.

This study identifies smoking-associated DNA methylation and gene expression changes in adipose tissue and links some to cardio-metabolic health outcomes.

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

The paper quantifies age-related changes in gene expression levels, splicing, and variance across tissues and identifies environmental and genetic influences on these changes in a twin cohort.

The paper uses whole genome sequence and RNA-seq to predict causal variants affecting gene expression and identifies high confidence causal variants enriched in GWAS associations.

The paper analyzes sequencing errors in Illumina Genome Analyzer data using logistic and log-linear models, improving error detection sensitivity and specificity by 3%.