Irene Romero-Perea

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 21 publications

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Journal: International journal of molecular sciences

Published: February 12, 2025

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Journal: Investigative ophthalmology & visual science

Published: June 17, 2024

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Journal: International journal of molecular sciences

Published: February 01, 2024

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

Journal: JCI insight

Published: February 07, 2023

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Journal: American journal of ophthalmology

Published: January 27, 2023

The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.

The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.

Journal: Ophthalmic research

Published: December 14, 2022

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

Journal: International journal of molecular sciences

Published: October 30, 2022

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Journal: International journal of molecular sciences

Published: June 23, 2022

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

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

Journal: NPJ genomic medicine

Published: March 28, 2022

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

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

Journal: NPJ genomic medicine

Published: July 23, 2021

Showing 1-12 of 21

Last Updated: 09/26/2026