Priscilla A. Furth

This study investigates the metabolic and gene expression effects of gain- and loss-of-function STAT5B variants in mice, revealing distinct impacts on lipid metabolism and hepatic sexual dimorphism.

The paper identifies circular RNAs that change in response to anti-hormonal treatments in mouse models, suggesting potential as non-invasive biomarkers for therapeutic response.

This study highlights issues with circRNA detection in poly(A)-enriched RNA-seq data, showing it leads to false positives and recommends total RNA-seq with rRNA depletion for accurate profiling.

The paper investigates the heritability and transcriptional impact of JAK3, STAT5A, and STAT6 variants in a Tyrolean family, finding that some carriers show activated basal transcriptomes without clinical symptoms.

The paper investigates two STAT5B mutations in T cell leukemias, showing one causes gain-of-function and the other loss-of-function, with distinct impacts on immune cell populations and transcriptional activity.

The paper provides sequencing depth guidelines for comprehensive alternative splicing analysis across tissues, showing that current depths are insufficient and recommending deeper sequencing or long-read technologies.

The paper introduces NeEDL, a network medicine-based method for detecting higher-order epistatic interactions in complex diseases, showing improved statistical significance and applicability across eight diseases.

The paper analyzes alternative splicing patterns in immune cells across SARS-CoV-2 variants and vaccination statuses, finding variant- and vaccination-specific profiles and a unique splicing dynamic in vaccinated Omicron-infected individuals.

The paper uses bulk RNA-seq to analyze immune responses to SARS-CoV-2 variants, showing that 10 million reads per sample can estimate immune cell composition and BCR/TCR sequences.

The paper introduces circRNA-sponging, a pipeline to analyze circRNA expression and miRNA sponging, identifying two types of circRNAs based on binding site ratios.