Juan I. Pieras
Centre for Biomedical Network Research on Rare Diseases(ES)Centro de Investigación Biomédica en Red(ES)Instituto de Biomedicina de Sevilla(ES)Hospital Universitario Virgen del Rocío(ES)Universidad de Sevilla(ES)
Publications by Year
Research Areas
Retinal Development and Disorders, melanin and skin pigmentation, Genomic variations and chromosomal abnormalities, RNA regulation and disease, Autism Spectrum Disorder Research
Most-Cited Works
- → EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa(2008)213 cited
- → Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa(2010)89 cited
- → Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP(2011)52 cited
- → Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing(2011)44 cited
- → Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male(2010)26 cited
- → Large‐scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval(2008)7 cited