Author

Ana Bustamante

Instituto de Salud Carlos III

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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

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 Inmaculada Rueda‐Arenas· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ángela del PozoORCID

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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