Blanca García‐Sandoval

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

Clinical Aspects of Usher Syndrome and the<i>USH2A</i>Gene in a Cohort of 433 Patients

Fiona Blanco‐Kelly, Teresa Jaijo, Elena Aller et al. · JAMA Ophthalmology · 2014 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

Marta Cortón, Sorina D. Tatu, Almudena Ávila‐Fernández et al. · Orphanet Journal of Rare Diseases · 2013 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Jana Zernant et al. · Ophthalmology · 2013 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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