Author

Matteo Orlandi

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Open access Aug 2026

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

It is proposed that MEK inhibitors may represent a relevant therapeutic option for BRAF fusions and non‐V600 BRAF mutant tumours, providing a novel strategy for this challenging disease.

Matilde Monti, Martina Brigida Romanello, L. Agnelli et al. · Journal of Pathology · 0 citations

Open access Sep 2026

Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity

TruPath Genome achieves high-resolution detection of SNVs and indels alongside long-range phasing for CNVs and structural variant (SV) refinement and facilitates telomere-to-telomere assemblies and pangenome development, advancing the understanding of genome biology at an unprecedented scale.

Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al. · npj Genomic Medicine · 0 citations