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Cristina Villaverde | Researchclopedia

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Cristina Villaverde

Instituto de Salud Carlos III

41

Works

1,090

Citations

16

h-index

21

i10-index

Research Topics

Retinal Development and Disorders Ocular Disorders and Treatments Developmental Biology and Gene Regulation

Affiliations

Instituto de Salud Carlos III2016–2025

Centre for Biomedical Network Research on Rare Diseases2016–2025

Centro de Investigación Biomédica en Red2011–2025

Hospital Universitario Fundación Jiménez Díaz2007–2025

Center for Biomedical Research of La Rioja2024–2025

Top Works

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

Irene Perea‐Romero,Gema Gordo,et al.

2021155 citations

Retinal Diseases and Treatments

Genomics and Phylogenetic Studies

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

Lara Rodríguez‐Laguna,Noelia Agrá,et al.

2018142 citations

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

Lara Rodríguez‐Laguna,Kristina Ibáñez,et al.

201879 citations

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

Ddd Study,Fabiola Ceroni,et al.

201856 citations

Implication of non-coding PAX6 mutations in aniridia

Julie Plaisancié,M. Tarilonte,et al.

201854 citations

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocío Sánchez-Alcudia,Maria García‐Hoyos,et al.

201646 citations

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

Juan‐Manuel Bonet‐Fernández,José‐Daniel Aroca‐Aguilar,et al.

202046 citations

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Fiona Blanco‐Kelly,María Palomares‐Bralo,et al.

201742 citations

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Iker Sánchez‐Navarro,Luciana R. J. da Silva,et al.

201833 citations