Juan Valcárcel

This paper identifies MED13L and RERE as genes regulated by EWSR1::FLI1 in Ewing sarcoma, showing their role in altering translation and alternative splicing, and demonstrates RBM39 inhibition as a therapeutic strategy.

OpenSplice quantifies the impact of over 590,000 variants on the splicing of 600 human exons, providing insights into splicing regulatory mechanisms and enabling machine learning model evaluation.

This study identifies splice-switching antisense oligonucleotides that correct splicing defects in SCN8A, reducing seizures and improving survival in a mouse model of genetic epilepsy.

The paper uses deep learning to predict splicing regulatory effects and identify effective antisense oligonucleotides by analyzing systematic deletion scans of human exons.

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

This study identifies Aurora-A as a splicing kinase that regulates alternative splicing by phosphorylating splicing factors and altering RNA motifs in affected regions.

The paper identifies a microexon program in pancreatic islets regulated by SRRM3, which affects insulin secretion and is linked to type 2 diabetes risk.

The paper studies alternative splicing dynamics during mouse B cell reprogramming into iPS cells and identifies three RNA-binding proteins involved in splicing regulation.

The paper shows that mutations rarely affect the inclusion of highly-included exons, suggesting disease-causing variants are more likely to affect alternatively spliced exons with intermediate inclusion levels.