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Dopazo J, Amadoz A, Bleda M, et al. 267 Spanish exomes reveal population-specific differences in disease-related genetic variation. Molecular biology and evolution. 2016. doi:10.1093/molbev/msw005.\par \par Lagarde J, Uszczynska-Ratajczak B, Santoyo-L\'f3pez J, et al. Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). Nature Communications. 2016;7(1). doi:10.1038/ncomms12339.\par \par Lagarde J, Uszczynska-Ratajczak B, Santoyo-L\'f3pez J, et al. Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). Nature communications. 2016;7:12339. doi:10.1038/ncomms12339.\par \par del Pozo MGonz\'e1lez-, M\'e9ndez-Vidal C, Santoyo-L\'f3pez J, et al. Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet?Biedl family. Molecular Genetics & Genomic Medicine. 2014;2:124-133. doi:10.1002/mgg3.50.\par \par del Pozo MGonz\'e1lez-, M\'e9ndez-Vidal C, Santoyo-L\'f3pez J, et al. Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med. 2014;2(2):124-33. doi:10.1002/mgg3.50.\par \par del Pozo MGonz\'e1lez-, M\'e9ndez-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.\par \par M\'e9ndez-Vidal C, Bravo-Gil N, del Pozo MGonz\'e1lez-, 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.\par \par Garc\'eda-Alonso L, Jim\'e9nez-Almaz\'e1n J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.\par \par M\'e9ndez-Vidal C, del Pozo MGonz\'e1lez-, Vela-Boza A, et al. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Molecular vision. 2013;19:2187-95. Available at: http://www.molvis.org/molvis/v19/2187/.\par \par }