Author

Yolanda Benítez

Hospital Universitario Fundación Jiménez DíazORCID 0009-0001-8351-7835Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Graciela Uría-RegojoiD· 2 shared Pablo MíngueziD· 2 shared Almudena FernándeziD· 1 shared Ana OsórioiD· 1 shared Aroa López-Alcojor· 1 shared Berta AlmogueraiD· 1 shared Carmen AyusoiD· 1 shared Cristina RodillaiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Graciela Uría-RegojoORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 14, 2026

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patients

Graciela Uría-Regojo, Lidia Fernández‐Caballero, Aroa López-Alcojor…·Pablo Mínguez

This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.

DOI 10.64898/2026.06.10.26355349

humanwhole-exome sequencing

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BioinformaticsScientific ReportsPeer-reviewedMay 21, 2026

A global survey of System Biology-based predictions of gene-rare disease associations to enhance new diagnoses

Yolanda Benítez, Graciela Uría-Regojo, Pablo Mínguez

The paper predicts gene-rare disease associations using a network-based algorithm to improve variant prioritization and guide functional validation.

DOI 10.1038/s41598-026-54510-3

statistical modelgene regulatory network inference

𝕏 PostBluesky