Almudena Ávila‐Fernández

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Audrey Sénéćhal et al. · Archives of Ophthalmology · 2012 · 125 citations

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

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

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández et al. · The American Journal of Human Genetics · 2013 · 79 citations · Full text

Ocular Disease, Mendelian Disorder, Ophthalmology +4

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Cortón, Koji M. Nishiguchi, Almudena Ávila‐Fernández et al. · PLoS ONE · 2013 · 77 citations · Full text