Author

Patricia Perez‐Carpena

Universidad de GranadaORCID 0000-0003-2722-4947Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Escalera‐BalseraiD· 2 shared Jose Antonio Lopez-EscameziD· 2 shared Paula Robles-BolívariD· 2 shared Alberto Bernal-RobledanoiD· 1 shared Alberto M. Parra‐PereziD· 1 shared Alvaro Gallego‐MartineziD· 1 shared Berthold LangguthiD· 1 shared Birgit MazurekiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alba Escalera‐BalseraORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 4, 2025

Loss of function and structural variants in the PRKRA synaptic gene link mild cognitive impairment and tinnitus

Mai T. Pham, Alberto Bernal-Robledano, Alba Escalera‐Balsera…·Jose Antonio Lopez-Escamez

The paper identifies rare PRKRA variants in individuals with tinnitus and mild cognitive impairment, linking them to early cognitive decline and suggesting a potential role in disease mechanisms.

DOI 10.1101/2025.11.04.25339446

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineMedCommPeer-reviewedSep 21, 2025

Different contribution of missense and loss-of-function variants to the genetic structure of familial and sporadic Meniere disease

Alberto M. Parra‐Perez, Alvaro Gallego‐Martinez, Alba Escalera‐Balsera…·Jose Antonio Lopez-Escamez

This study compares the genetic burden of missense and loss-of-function variants in familial and sporadic Meniere disease, finding divergent genetic architectures and shared enriched genes.

15 citationstop 4%

humanwhole-exome sequencing

𝕏 PostBluesky