Author

Neus Baena

Universitat Autònoma de BarcelonaORCID 0000-0003-0677-240XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anna RuiziD· 2 shared Nino SpataroiD· 2 shared Núria CapdevilaiD· 2 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alejandra DamiániD· 1 shared Ana VegaiD· 1 shared Andrea Sariego JamardoiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anna RuizORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 16, 2025

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro

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

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsPLoS ONEPeer-reviewedOct 15, 2021

New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramírez-Mallafré…·Anna Ruiz

The paper identifies new genetic variants in patients with Angelman syndrome-like features, expanding the known genetic spectrum and highlighting genetic heterogeneity.

23 citations

humanwhole-exome sequencing

𝕏 PostBluesky