Author

Núria Catasús

Institut d'Investigació en Ciències de la Salut Germans Trias i PujolORCID 0000-0003-4767-0186Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:CRISPR screen· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Eduard SerraiD· 3 shared Elisabeth CastellanosiD· 3 shared Ignacio BlancoiD· 3 shared Adrià Plana‐PlaiD· 2 shared Alejandro NegroiD· 2 shared Conxi LázaroiD· 2 shared Emilio AmilibiaiD· 2 shared Inma RosasiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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3 shared papersGenetics

Eduard SerraORCID

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3 papers

Recent·Most cited

GeneticsMolecular Therapy — Nucleic AcidsPeer-reviewedAug 3, 2026

NF2 lacking exon 11 isoform induced by antisense gene therapy is able to recover partially merlin deficiency on NF2-related Schwannomatosis iPSC-derived spheroid model

Gemma Casals-Sendra, Ignasi Jarne-Sanz, Núria Catasús…·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.

DOI 10.1016/j.omtn.2026.103046

humanCRISPR screen

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GeneticsbioRxivPreprintFeb 11, 2022

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

Núria Catasús, Inma Rosas, Sandra Bonache…·Elisabeth Castellanos

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

DOI 10.1101/2022.02.11.479859

humanexperimental assay

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedAug 4, 2021

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

Núria Catasús, B. García, Iván Galván‐Femenía…·Elisabeth Castellanos

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.

13 citations

humanbulk RNA-seq

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