Author

Irene Perea‐Romero

Instituto de Salud Carlos IIIORCID 0000-0002-6402-4891Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Assay:whole-exome sequencing· 2 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Carmen AyusoiD· 3 shared Marta CortóniD· 3 shared Marta Del Pozo‐ValeroiD· 3 shared Almudena Ávila‐Fernández· 2 shared Fiona Blanco‐KellyiD· 2 shared Inmaculada Martín-Mérida· 2 shared Lorena de la Fuente· 2 shared María José Trujillo-Tiebas· 2 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Carmen AyusoORCID

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3 papers

Recent·Most cited

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, Fiona Blanco‐Kelly, Lidia Fernández‐Caballero, Marta Cortón, Carmen Ayuso, Pablo Mínguez

The paper develops GLOWgenes, a disease-aware network-based algorithm to prioritize new candidate genes for rare genetic diseases by evaluating heterogeneous molecular networks.

International Journal of Molecular Sciences · Jan 14, 2023Peer-reviewedGenetic & Genomic Medicine

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, Lorena de la Fuente, Raquel Romero, Almudena Ávila‐Fernández, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo‐Valero, Alejandra Damián, Marta Cortón, Carmen Ayuso, 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.

International Journal of Molecular Sciences · Jul 29, 2022Peer-reviewedGenetic & Genomic Medicine

RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients.

Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly, Almudena Ávila‐Fernández, Inmaculada Martín-Mérida, Marta Del Pozo‐Valero, Irene Perea‐Romero, Olga Zurita, Belén Jimenez‐Rolando, Saoud Tahsin Swafiri, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Ester Carreño, Blanca García‐Sandoval, Marta Cortón, Carmen Ayuso

The paper analyzes RPE65 variants in 45 patients with retinal dystrophy, finding associations between variant types and age at onset.

Experimental Eye Research · Sep 4, 2021Peer-reviewedGenetic & Genomic Medicine