Juan I. Pieras

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Mai M. Abd El-Aziz, Isabel Barragán, C. O'Driscoll et al. · Nature Genetics · 2008 · 209 citations · Full text

Biology, Developmental Biology, Developmental Genetics +10

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Isabel Barragán, Salud Borrego, Juan I. Pieras et al. · Human Mutation · 2010 · 89 citations · Full text

Copy-Number Variations in<i>EYS:</i>A Significant Event in the Appearance of arRP

Juan I. Pieras, Isabel Barragán, Salud Borrego et al. · Investigative Ophthalmology & Visual Science · 2011 · 52 citations · Full text

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

María González‐del Pozo, Salud Borrego, Isabel Barragán et al. · PLoS ONE · 2011 · 44 citations · Full text

Ocular Disease, Genetics, Pathology +18

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male

Juan I. Pieras, Beatriz Muñoz Cabello, Salud Borrego et al. · Brain and Development · 2010 · 26 citations

Y120x Mutation, Developmental Biology, Genetic Disorder +9