Author

Estefanía Alcaide-Consuegra

Instituto de Salud Carlos IIIORCID 0000-0002-2172-2534Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Raquel RabionetiD· 2 shared Susana BalcellsiD· 2 shared Aina Medina-DolsiD· 1 shared Aina Prat-PlanasiD· 1 shared Ana Rodríguez-CampelloiD· 1 shared Ángel OisiD· 1 shared Carlos David BruqueiD· 1 shared Carmen JiméneziD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Raquel RabionetORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet, Susana Balcells

The paper investigates the subcellular localization of truncated MAGEL2 proteins in Schaaf-Yang syndrome, finding that all truncated variants predominantly localize to the nucleus, with more severe clinical features associated with greater nuclear retention.

bioRxiv · Jan 22, 2024 · PreprintMolecular Biology