Conxi Lázaro

This study shows that antisense gene therapy using PMOs can induce exon 11 skipping in NF2-deficient Schwann cells, partially restoring merlin function and key pathways in a spheroid model of NF2-SWN.

This paper identifies three distinct molecular subtypes of MPNSTs with unique genomic features and progression paths, offering a framework for improved diagnosis and treatment.

This paper uses iPSC-derived neural crest models to mimic MPNST progression and identifies PARPi as a potential therapy for PRC2-deficient tumors.

This paper analyzes genomic alterations in MPNST cell lines to challenge their current diagnosis, finding significant differences between NF1-related and sporadic lines.

The paper validates the UK NF2 Genetic Severity Score in a Spanish cohort and proposes a revised version incorporating functional assays to improve prediction of clinical outcomes for mild and moderate phenotypes.

This study benchmarks CNV detection tools on NGS panel data for genetic diagnostics, finding DECoN and panelcn.MOPS suitable as screening methods with optimized parameters.