Elisabeth Castellanos

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 study links vestibular function loss in vestibular schwannoma patients to sensory epithelium pathology, including reduced hair cell counts and calyx damage.

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

The paper shows that vestibular calyceal junction dismantlement occurs in rats with streptomycin-induced ototoxicity and in human sensory epithelia under stress, preceding hair cell loss.

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.

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.