Inma Rosas

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

This study shows that antisense oligonucleotides targeting exon 11 can partially rescue the NF2 phenotype in vitro by inducing a hypomorphic Merlin isoform.

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.