Author

Alejandra Damián

Hospital Universitario Fundación Jiménez DíazORCID 0000-0003-1886-8257Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Berta AlmogueraiD· 2 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Almudena Ávila‐Fernández· 1 shared Ana VegaiD· 1 shared Andrea Sariego JamardoiD· 1 shared Ángeles Pérez‐Granero· 1 shared Anna Brunet‐VegaiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Berta AlmogueraORCID

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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

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Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewedJul 29, 2022

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies

Ionut-Florin Iancu, Irene Perea‐Romero, Gonzalo Núñez‐Moreno…·Pablo Mínguez

The paper builds a cohort-specific allelic frequency database to prioritize variants and genes in non-solved inherited retinal dystrophies, identifying 8 potential causative variants and 18 genes for further study.

10 citations

humanwhole-exome sequencing

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