Riccardo Berutti

This study compares FLASH and conventional radiotherapy in melanoma-bearing and naive mice, finding FLASH reduces long-term tissue damage and systemic inflammation while maintaining tumor control.

This study identifies novel and known genetic contributors to hypertension using RNA-seq and eQTL analyses, highlighting potential drug targets and pathways.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

This study identifies sequential defects in cardiac lineage commitment and maturation in hypoplastic left heart syndrome using multi-omics approaches and iPSC modeling.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

The paper investigates variants in MAU2 and NIPBL in CdLS, showing NIPBL haploinsufficiency as the main cause and revealing a protective mechanism for NIPBL out-of-frame mutations.