Home

Publications

Export 4 results:
Author Title Type [ Year(Asc)]
Filters: Keyword is Humans and Author is Bravo-Gil, Nereida  [Clear All Filters]
2016
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.
2015
Del Pozo MGonzález-, Bravo-Gil N, Méndez-Vidal C, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am J Med Genet A. 2015;167(7):1597-600. doi:10.1002/ajmg.a.37003.
2014
del Pozo MGonzález-, Méndez-Vidal C, Bravo-Gil N, et al. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.