Author

Beatriz Morte

Instituto de Salud Carlos IIIORCID 0000-0003-0702-7815Unclaimed 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:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ana Isabel Vega Pajares· 1 shared Andrea Katrinecz· 1 shared Andrea Sariego JamardoiD· 1 shared Andrew David MumfordiD· 1 shared Ángel CarracedoiD· 1 shared Anna Duat RodrígueziD· 1 shared Antonio Federico Martínez‐MonsenyiD· 1 shared Barbara Fernández Garoz· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Isabel Vega Pajares

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedApr 10, 2025

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees…·Ernest Turro

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

60 citationstop 1%

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintAug 1, 2024

Unveiling the Landscape of Reportable Genetic Secondary Findings in the Spanish Population: A Comprehensive Analysis Using the Collaborative Spanish Variant Server Database

Rosario Carmona, Javier Pérez-Florido, Gema Roldán…·CSVS Crowdsourcing Group

The paper analyzes genetic secondary findings in the Spanish population using the Collaborative Spanish Variant Server database, finding 5% of individuals have reportable variants in 32 ACMG-listed genes.

1 citation

humanwhole-exome sequencing

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