Irene Perea-Romero

6PUBLICATIONS
16CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (6)

|May 07, 2025
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez

|Jan 21, 2023
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero

|Jul 14, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly

|Jan 28, 2022
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.

Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero

|Aug 27, 2021
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

I Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro

|Feb 24, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche

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Frequent Collaborators

6 joint publications

Carmen Ayuso

5 joint publications

Pablo Minguez

2 joint publications

Ionut-Florin Iancu

2 joint publications

Marta Corton