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Author Title [ Type(Desc)] Year
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Journal Article
Peña-Chilet M, Roldán G, Perez-Florido J, et al. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021;49(D1):D1130-D1137. doi:10.1093/nar/gkaa794.
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.
Fernández RMa, Bleda M, Núñez-Torres R, et al. Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis. 2012;7:103. doi:10.1186/1750-1172-7-103.
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.
del Pozo MGonzález-, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One. 2011;6(12):e27894. doi:10.1371/journal.pone.0027894.
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.
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.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis. 2013;8:187. doi:10.1186/1750-1172-8-187.
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.