Cristina Villaverde

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Somatic activating mutations in <i>PIK3CA</i> cause generalized lymphatic anomaly

Lara Rodríguez‐Laguna, Noelia Agrá, Gloria Oliva-Molina et al. · The Journal of Experimental Medicine · 2018 · 149 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +15

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

Life Sciences, Genetics, Molecular Genetics +6

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Ddd Study, Fabiola Ceroni, Domingo Aguilera‐Garcia et al. · Human Genetics · 2018 · 57 citations · Full text

Medicine, Genetics, Ophthalmology +14

Implication of non-coding PAX6 mutations in aniridia

Julie Plaisancié, M. Tarilonte, Patrícia Locosque Ramos et al. · Human Genetics · 2018 · 55 citations

Life Sciences, Genetics, Molecular Genetics +9