Author

Amanda Herranz

Hospital Universitario La PazORCID 0000-0002-3385-9378Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Carazo Álvarez· 1 shared C.A. Valero Jimenez· 1 shared Carlos Rodríguez‐AntolíniD· 1 shared Cris Ortiz López· 1 shared Francisco Jesús Arrieta Blanco· 1 shared Irene Hidalgo MayoraliD· 1 shared María Jesús Delgado-Martos· 1 shared Neila Rodríguez Roca· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Carazo Álvarez

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1 paper

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