Concepedia

Marta Del Pozo‐Valero

MD

Statistics

Publications

15

Citations

678

H-Index

12

Active since

2019

Affiliations

Hospital Universitario Fundación Jiménez Díaz(Current)

Centre for Biomedical Network Research on Rare Diseases

Universidad Autónoma de Madrid

Instituto de Salud Carlos III

Radboud University Medical Center

Marta Del Pozo‐Valero is an author at Hospital Universitario Fundación Jiménez Díaz specializing in medicine, genetics, and genomics.

ORCID

Top concepts

Publications per year

2019–2024

15

Publications

15

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

, , +11

Genomic Landscape of Sporadic Retinitis Pigmentosa

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

, , +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

, , +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

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