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Irene Perea‐Romero

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Publications

11

Citations

368

H-Index

10

Active since

2020

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

Hospital Universitario Fundación Jiménez Díaz

University of Leicester

Irene Perea‐Romero is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, glaucoma, and ophthalmology.

ORCID

Top concepts

Publications per year

2020–2023

11

Publications

11

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 154 citations · Full text

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

Irene Perea‐Romero, Carlos Solarat, Fiona Blanco‐Kelly et al. · npj Genomic Medicine · 2022 · 49 citations · Full text

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

Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly et al. · Experimental Eye Research · 2021 · 29 citations

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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

Ionut-Florin Iancu, Almudena Ávila‐Fernández, Ana Arteche‐López et al. · npj Genomic Medicine · 2021 · 27 citations · Full text

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

Irene Perea‐Romero, Fiona Blanco‐Kelly, Iker Sánchez‐Navarro et al. · Human Genetics · 2021 · 23 citations · Full text

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