Silvia Casadei

The paper uses saturation genome editing to assess the functional impact of RAD51D and XRCC2 variants, showing high accuracy in distinguishing pathogenic from benign variants.

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

This paper maps 6,888 RAD51D variants to identify biochemical functions critical for homologous recombination and olaparib response, revealing key regions and mechanisms of variant impact.

The paper uses saturation genome editing to evaluate BARD1 variants, resolving most variants of uncertain significance and confirming their role in tumor suppression.

This study uses quantitative proteomics to analyze human and mouse gastruloids at four stages, revealing protein dynamics, discordance with transcriptomes, and gene networks linked to developmental defects.

This study identifies secondary splice-site mutations in BRCA1 that drive exon skipping and PARP inhibitor resistance in ovarian and breast cancer.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.