Sophie Bonnal

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.

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 identifies core splicing architecture and length constraints as factors determining microexon sensitivity to SRRM3/4 across vertebrates.

The paper identifies an alternative splicing event in SUZ12 that generates two PRC2 subtypes, SUZ12-S and SUZ12-L, with distinct roles in PRC2 function and H3K27 methylation.

Insplico quantifies intron splicing order using short and long RNA-seq reads, revealing conserved patterns and novel features across species and tissues.

The paper identifies Srrm3-dependent microexons as critical for photoreceptor function and vision, showing their role in outer segment maintenance and their loss leading to blindness.

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 identifies a splicing program in neurons of Drosophila and mammals, showing how it evolves independently in different species to regulate ion channels and neuronal activity.

The paper shows that during zygotic genome activation, embryos exhibit temporary splicing failures in DNA damage response genes, regulated by Snrpb and Snrpd2, which reduce DNA damage response.