C. Vélez-Monsalve

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

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Ana Arteche‐López, Raquel Escutia Romero, Rosa Riveiro-Álvarez et al. · Scientific Reports · 2021 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Fiona Blanco‐Kelly, María Palomares‐Bralo, Elena Vallespín et al. · PLoS ONE · 2017 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings

Milena Peraita-Ezcurra, Mónica Mártinez‐García, Víctor L. Ruiz‐Pérez et al. · Gene · 2012 · 13 citations

Life Sciences, Genetics, Pathology +16

Author Correction: 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 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15