Irene Perea-Romero (I Perea-Romero)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 8

Top Topics

Diabetic Retinopathy

Intellectual Disability

Dna Methylation

Top Venues

International journal of molecular sciences

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Mínguez, Marta Corton, Diana Valverde, Carmen Ayuso
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome. NPJ genomic medicine 7 (1) (2022)
Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Inmaculada Martín-Mérida, Almudena Ávila-Fernández, Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Alejandra Damián, Cristina Rodilla, Berta Almoguera, Marta Cortón, Carmen Ayuso, Pablo Mínguez
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. NPJ genomic medicine 7 (1) (2022)
Irene Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, I Lorda-Sanchez, S Tahsin-Swafiri, A Avila-Fernandez, I Martin-Merida, M J Trujillo-Tiebas, R Lopez-Rodriguez, M Rodriguez de Alba, I F Iancu, R Romero, M Quinodoz, H Hakonarson, Blanca Garcia-Sandova, P Minguez, M Corton, C Rivolta, Carmen Ayuso
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. Human genetics 140 (12) (2021)
Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Mínguez, Carmen Ayuso
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. NPJ genomic medicine 6 (1) (2021)