Luisa Mestroni

The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

The paper integrates genomics and transcriptomics data from human heart samples to identify regulatory mechanisms linking genetic variation to dilated cardiomyopathy.

This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

The paper identifies CaMKIIδ-B subcellular localization as a determinant of myocardial recovery in heart failure, showing cytoplasmic retention impairs recovery.

The paper investigates how UTY modulates sex-specific methylation in male valvular fibroblasts in response to nanoscale extracellular matrix cues, promoting osteoblast-like cell phenotypes in aortic valve stenosis.