Author

Rocío Mena

Hospital Universitario La PazORCID 0000-0002-8887-7100Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ana Bustamante· 1 shared Ángela del PozoiD· 1 shared Carmen AyusoiD· 1 shared Cristina VillaverdeiD· 1 shared Elena VallespíniD· 1 shared Fernando Santos‐SimarroiD· 1 shared Gema GordoiD· 1 shared Héctor González-Pecellín· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ana Bustamante

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1 paper

Recent·Most cited

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