Concepedia

Rocío Mena

RM

Statistics

Publications

11

Citations

347

H-Index

10

Active since

2009

Affiliations

Hospital Universitario La Paz(Current)

Centre for Biomedical Network Research on Rare Diseases

Universidad Autónoma de Madrid

Centro de Investigación Biomédica en Red

Instituto de Salud Carlos III

Rocío Mena is an author at Hospital Universitario La Paz specializing in genetics, genetic disorders, and life sciences.

ORCID

Publications per year

2009–2023

11

Publications

11

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

Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo et al. · Genetics in Medicine · 2018 · 80 citations · Full text

, , +6

A founder <i>EIF2AK4</i> mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

Jair Tenorio, P. Navas, Elvira Barrios et al. · Clinical Genetics · 2014 · 74 citations

, , +15

Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

Jair Tenorio, Valeria Romanelli, Álex Martín-Trujillo et al. · American Journal of Medical Genetics Part A · 2016 · 39 citations · Full text

, , +17

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Julián Nevado, Jill A. Rosenfeld, Rocío Mena et al. · European Journal of Human Genetics · 2015 · 35 citations · Full text

, , +14

A New Overgrowth Syndrome is due to Mutations in<i>RNF125</i>

Jair Tenorio, Alicia Mansilla, Víctor Martínez‐Glez et al. · Human Mutation · 2014 · 34 citations · Full text

, , +15

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