Irene Perea‐Romero

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 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

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

Life Sciences, Genetics, Molecular Genetics +17

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 · 31 citations

Medicine, Genetics, Ophthalmology +16

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 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 24 citations · Full text

Medicine, Bioinformatics, Molecular Genetics +14