Elisabeth Rebboah

This study identifies LEUTX as a key amplifier of DUX4 signaling in FSHD, showing its role in disrupting myotube differentiation and promoting aberrant gene expression.

The paper uses hybrid crosses to analyze regulatory variation in mouse tissues, finding cell-type-specific trans-acting effects and highlighting the limitations of bulk tissue analysis.

The paper characterizes transcriptomes across 8 tissues in 8 mouse strains to identify expression variation linked to genetic differences and phenotypic traits.

The paper develops lr-kallisto, a tool for accurate long-read transcriptome quantification using ONT data, showing improved results with exome capture.

The paper introduces ember, an entropy-based framework to assess gene specificity in single-cell RNA sequencing data, revealing unexpected patterns in gene expression across tissues and mouse strains.

The paper identifies regulatory programs in postnatal mouse development using single-nucleus data, revealing cell-type-specific and common regulatory topics across multiple tissues.

The paper introduces Topyfic, a reproducible LDA method, to identify cellular programs in single-cell data and shows sex-specific differences in microglial activation in Alzheimer's disease mouse models.

Long-read sequencing of 81 human and mouse samples yields 200,000 full-length transcripts plus a triplet framework that separates promoter choice, splicing and 3' end use across tissues.

The paper introduces LR-Split-seq, a long-read single-cell RNA-seq method, to study differential RNA isoform expression and validates it using mouse myoblast differentiation data.

The paper uses single-cell and nucleus RNA-seq to analyze glial subpopulations in AD mouse models, finding differences in astrocyte activation and microglia subtypes between 3xTg-AD and 5xFAD models.

The paper identifies gene regulatory networks driving macrophage polarization using bulk and single-cell RNA-seq and ATAC-seq data from HL-60-derived macrophages.