Jana Aguirre-Lambán

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

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Almudena Ávila‐Fernández, Diego Cantalapiedra, Elena Aller et al. · PubMed · 2010 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez et al. · Investigative Ophthalmology & Visual Science · 2007 · 85 citations

Medicine, Genetics, Molecular Genetics +17

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

<i>CERKL</i>Mutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa

Almudena Ávila‐Fernández, Rosa Riveiro-Álvarez, Elena Vallespín et al. · Investigative Ophthalmology & Visual Science · 2008 · 52 citations

Medicine, Genetics, Ophthalmology +17