Author

Gema Gordo

Hospital Universitario La PazORCID 0000-0002-7840-3403Unclaimed 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:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1

Frequent Co-Authors

Lara Rodríguez‐LagunaiD· 2 shared Víctor Martínez‐GleziD· 2 shared Ana Bustamante· 1 shared Ángela del PozoiD· 1 shared Carmen AyusoiD· 1 shared Carmen Rodríguez‐JiméneziD· 1 shared Concepción Alonso· 1 shared Cristina VillaverdeiD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Lara Rodríguez‐LagunaORCID

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Author profile →

2 papers

Recent·Most cited

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

Sonia Rodríguez‐Nóvoa, Carmen Rodríguez‐Jiménez, Concepción Alonso, Lara Rodríguez‐Laguna, Gema Gordo, Víctor Martínez‐Glez, Iluminada García Polo

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

Atherosclerosis · Aug 28, 2020Peer-reviewedGenetics

CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo, Sixto García‐Miñáur, Fernando Santos‐Simarro, Noelia Agrá, Elena Vallespín, Victoria E. F. Montaño, Rubén Martín‐Arenas, Ángela del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda‐Arenas, María Vanessa Pérez-Gómez, Cristina Villaverde, , Víctor Martínez‐Glez

The paper identifies somatic activating PIK3CA mutations in CLAPO syndrome patients and updates the syndrome's phenotype and natural history.

Genetics in Medicine · Feb 15, 2018Peer-reviewedGenetics