Author

Carmen Rodríguez‐Jiménez

Hospital Universitario La PazORCID 0000-0002-5059-6194Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Concepción Alonso· 1 shared Gema GordoiD· 1 shared Iluminada García Polo· 1 shared Lara Rodríguez‐LagunaiD· 1 shared Sonia Rodríguez‐NóvoaiD· 1 shared Víctor Martínez‐GleziD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetics

Concepción Alonso

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1 paper

Recent·Most cited

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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