Author

Isabel Fernández Pérez

Hospital del Mar Research InstituteORCID 0000-0002-9949-1393Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aina Medina-DolsiD· 1 shared Ana Rodríguez-CampelloiD· 1 shared Ángel OisiD· 1 shared Carlos David BruqueiD· 1 shared Carmen JiméneziD· 1 shared Cristòfol Vives-BauzáiD· 1 shared Elisa Cuadrado‐GodiaiD· 1 shared Estefanía Alcaide-ConsuegraiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aina Medina-DolsORCID

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1 paper

Recent·Most cited

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome

Estefanía Alcaide-Consuegra, Marina Mola-Caminal, Geòrgia Escaramís, Uxue Lazcano, Isabel Fernández Pérez, Jaume Reig‐Palou, Joan Jiménez-Baladó, Eva Giralt Steinhauer, Elisa Cuadrado‐Godia, Ángel Ois, Ana Rodríguez-Campello, Marta Vallverdú-Prats, Aina Medina-Dols, Carmen Jiménez, Sílvia Tur, , Raquel Rabionet

This study identifies rare variants in VNN2 associated with improved stroke recovery using exome sequencing and structural analysis.

Stroke · Jun 11, 2025Peer-reviewedGenetic & Genomic Medicine