Kevin S. Smith

The paper analyzes multi-omic, multi-tissue molecular responses to acute exercise in sedentary adults, identifying key pathways and exerkines involved in exercise effects.

This study identifies tissue-specific lncRNA responses to endurance exercise in rats, revealing sex differences and potential therapeutic implications.

The paper identifies tissue-specific transcriptional regulatory programs in rats undergoing endurance exercise training by integrating chromatin accessibility, DNA methylation, and gene expression data.

The paper identifies individuals with minor spliceopathies by analyzing transcriptome-wide splicing outliers in RNA-seq data from rare disease cohorts.

This study identifies a conserved PRP4K-CHMP4B/vps32 splicing circuit that regulates autophagy in both human cells and Dictyostelium discoideum.

This study examines how different genome builds affect RNA-seq results in rare disease samples and recommends cross-referencing with a database of build-dependent genes for more accurate transcriptomics analysis.

This study examines how endurance exercise training affects rat subcutaneous white adipose tissue, revealing sex-specific molecular responses and differences in adiposity and metabolism.

The paper identifies novel transcripts, eQTLs, and caQTLs in African populations and fine-maps GWAS signals for complex diseases.

This study profiles multi-omic changes in multiple tissues of rats during endurance exercise training, identifying molecular adaptations and sex-specific responses across time.

This study identifies multiple causal variants underlying genetic associations in humans using MPRA and eQTL data.

The paper analyzes gene expression and splicing changes in human aging using longitudinal RNA sequencing data from the PIVUS study, finding stability in most genetic regulation but dynamic changes in a subset of genes.

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

The paper identifies PPP1R3A as a central cardioprotective factor in pressure overload heart failure by analyzing gene network rewiring in human hearts.

The paper uses long-read whole genome sequencing to identify a pathogenic structural variant in a patient with Carney complex, demonstrating the potential of LRS in diagnosing Mendelian diseases.