Author

Sonia Rodríguez‐Nóvoa

Hospital Universitario La PazORCID 0000-0003-4225-3631Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Ana Carazo Álvarez· 2 shared C.A. Valero Jimenez· 2 shared Irene Hidalgo MayoraliD· 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

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ana Carazo Álvarez

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 16, 2025

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…·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.

DOI 10.1101/2025.05.16.25325576

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintMar 19, 2025

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…·Sonia Rodríguez‐Nóvoa

DOI 10.1101/2025.03.19.25324093

humanwhole-exome sequencing

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GeneticsAtherosclerosisPeer-reviewedAug 28, 2020

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor (LDLR)

Sonia Rodríguez‐Nóvoa, Carmen Rodríguez‐Jiménez, Concepción Alonso…·Iluminada García Polo

The paper reports a mosaic LDLR single nucleotide variant in a familial hypercholesterolemia patient, detected using NGS and confirmed by pyrosequencing.

13 citations

humanwhole-exome sequencing

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