María Isabel López-Molina

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

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Koji M. Nishiguchi, Almudena Ávila‐Fernández, Ramon A. C. van Huet et al. · Ophthalmology · 2014 · 55 citations

Life Sciences, Genetics, Molecular Genetics +14

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

Patrícia José, Marta Cortón, Fiona Blanco‐Kelly et al. · Investigative Ophthalmology & Visual Science · 2015 · 51 citations

Medicine, Genetics, Molecular Genetics +16

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón et al. · Human Molecular Genetics · 2015 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +17