Alicia Vela‐Boza
Institut thématique Génétique, génomique et bioinformatique(FR)Median SCP (Spain)(ES)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Genetic Associations and Epidemiology, CRISPR and Genetic Engineering, RNA modifications and cancer
Most-Cited Works
- → A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium(2014)1,057 cited
- → 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation(2016)108 cited
- → Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)(2016)88 cited
- → The role of the interactome in the maintenance of deleterious variability in human populations(2014)32 cited
- → Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree(2014)21 cited
- Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.(2013)
- → Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies(2014)18 cited
- → Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family(2013)16 cited
- → Novel pathogenic variants identified in this study.(2015)