Marta Del Pozo‐Valero

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 · 154 citations · Full text

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero et al. · Genetics in Medicine · 2020 · 139 citations · Full text

Functional Genomics, Medicine, Natural Sciences +11

Genomic Landscape of Sporadic Retinitis Pigmentosa

Inmaculada Martín-Mérida, Almudena Ávila‐Fernández, Marta Del Pozo‐Valero et al. · Ophthalmology · 2019 · 67 citations

Medicine, Genetics, Next-generation Sequencing +6

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in <i>ABCA4</i>

Zeinab Fadaie, Mubeen Khan, Marta Del Pozo‐Valero et al. · Human Mutation · 2019 · 51 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +17

Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1

Marta Del Pozo‐Valero, Inmaculada Martín-Mérida, Belén Jimenez‐Rolando et al. · American Journal of Ophthalmology · 2019 · 45 citations · Full text