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 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Genomic Landscape of Sporadic Retinitis Pigmentosa

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

Medicine, Genetics, Molecular Genetics +13

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 · 52 citations · Full text

Life Sciences, Genetics, 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 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease

Esmee H. Runhart, Mubeen Khan, Stéphanie S. Cornelis et al. · JAMA Ophthalmology · 2020 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16