Alejandro Negro

A detailed landscape of genomic alterations in malignant peripheral nerve sheath tumor cell lines challenges the current MPNST diagnosis

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

Antisense oligonucleotides targeting exon 11 are able to partially rescue the Neurofibromatosis Type 2 phenotype in vitro

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

Revisiting the UK Genetic Severity Score for NF2: a proposal for adding functional information

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.