Author

Marcela D. Mena

Consejo Nacional de Investigaciones Científicas y TécnicasORCID 0000-0002-8734-9031Unclaimed 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 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adrian DockeryiD· 1 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alaa AlTalbishiiD· 1 shared Alejandra DamiániD· 1 shared Alexander HoischeniD· 1 shared Ana FakiniD· 1 shared Ana VegaiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Adrian DockeryORCID

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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

GeneticsGenetics in MedicinePeer-reviewedApr 19, 2020

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

131 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky