Author

Rosario López‐Rodríguez

Universidad San Pablo CEUORCID 0000-0002-4713-0633Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Berta AlmogueraiD· 3 shared Carmen AyusoiD· 3 shared Marta CortóniD· 3 shared Antonio HerreroiD· 2 shared Belén Gil-Fournier· 2 shared Estela Paz‐ArtaliD· 2 shared Esther ManceboiD· 2 shared Fiona Blanco‐KellyiD· 2 shared

Activity by Year

2021-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Berta AlmogueraORCID

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4 papers

Recent·Most cited

Novel risk loci for COVID-19 hospitalization among admixed American populations

Silvia Diz‐de Almeida, Raquel Cruz, André Ducati Luchessi, Jose Miguel Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González‐Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio, Julián B. Nevado, José María Aguado, Carlos Aguilar, Sergio Aguilera, Virginia Almadana Pacheco, , Juan Carlos Souto

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

eLife · Sep 16, 2024Peer-reviewedGenetic & Genomic Medicine

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona, Saoud Tahsin Swafiri, Rosario López‐Rodríguez, Rebeca Losada-Del Pozo, Ignacio Mahíllo, Beatriz Moreno, María Rodrigo-Moreno, Dídac Casas‐Alba, Aitor López-González, Sixto García‐Miñáur, María Ángeles Mori, Marta Pacio Miguez, Emi Rikeros‐Orozco, , Berta Almoguera

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

Journal of Medical Genetics · Nov 29, 2022Peer-reviewedGenetic & Genomic Medicine

Androgen receptor polyQ alleles and COVID-19 severity in men: a replication study

Rosario López‐Rodríguez, Javier Ruiz‐Hornillos, Marta Cortón, Berta Almoguera, Pablo Mínguez, María Elena Pérez-Tomás, María Barreda‐Sánchez, Esther Mancebo, Lorena Ondo, Andrea Martínez‐Ramas, Lidia Fernández‐Caballero, Juan Carlos Taracido‐Fernández, Antonio Herrero, Ignacio Mahíllo, The STOP_Coronavirus Study Group, , Carmen Ayuso

This study replicates previous findings on the association between androgen receptor polyQ alleles and COVID-19 severity in men, finding no significant association.

Andrology · Nov 14, 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