Author

Irene Hidalgo Mayoral

Hospital Universitario La PazORCID 0000-0002-9104-4767Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ana Carazo Álvarez· 2 shared C.A. Valero Jimenez· 2 shared Sonia Rodríguez‐NóvoaiD· 2 shared Amanda HerranziD· 1 shared Amanda Herranz Cecilia· 1 shared Ana Bergua Martínez· 1 shared Ana Moráis LópeziD· 1 shared Carlos Rodríguez‐AntolíniD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ana Carazo Álvarez

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2 papers

Recent·Most cited

Functional analysis of LDLR variants reveals that the novel p.(Ser610Tyr) variant in the YMDD motif drastically impacts LDL uptake

Cris Ortiz López, Neila Rodríguez Roca, Irene Hidalgo Mayoral, Amanda Herranz, Carlos Rodríguez‐Antolín, Pedro Martı́nez Hernández, Ana Carazo Álvarez, Francisco Jesús Arrieta Blanco, Sara Fernández Hernández, María Jesús Delgado-Martos, C.A. Valero Jimenez, Sonia Rodríguez‐Nóvoa

The paper functionally analyzes LDLR variants in hypercholesterolemia patients, reclassifying five variants as pathogenic and identifying the novel p.(Ser610Tyr) variant as significantly impacting LDL uptake.

medRxiv · May 16, 2025 · PreprintGenetic & Genomic Medicine

Clinical, biochemical and molecular characterization of newborns with fatty acid beta-oxidation disorders: new variants in the ACADM, ACADVL and SLC22A5 genes

Irene Hidalgo Mayoral, Amanda Herranz Cecilia, C.A. Valero Jimenez, Ana Carazo Álvarez, Ana Bergua Martínez, José David Andrade Guerrero, Ana Moráis López, Sonia Rodríguez‐Nóvoa

medRxiv · Mar 19, 2025 · PreprintGenetic & Genomic Medicine