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2013
Méndez-Vidal C, del Pozo MGonzález-, 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/.
Méndez-Vidal C, del Pozo MGonzález-, 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/.
2014
Tárraga J, Arnau V, Martinez H, et al. Acceleration of short and long DNA read mapping without loss of accuracy using suffix array. Bioinformatics (Oxford, England). 2014;30:3396-3398. doi:10.1093/bioinformatics/btu553.
Iglesias JManuel, Leis O, Ruiz EPérez, et al. The Activation of the Sox2 RR2 Pluripotency Transcriptional Reporter in Human Breast Cancer Cell Lines is Dynamic and Labels Cells with Higher Tumorigenic Potential. Front Oncol. 2014;4:308. doi:10.3389/fonc.2014.00308.
Munro SA, Lund SP, P Pine S, et al. Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures. Nature communications. 2014;5:5125. doi:10.1038/ncomms6125.
de Castro-Miró M, Pomares E, Lorés-Motta L, et al. Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. PloS one. 2014;9:e88410. doi:10.1371/journal.pone.0088410.
de Castro-Miró M, Pomares E, Lorés-Motta L, et al. Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. PloS one. 2014;9:e88410. doi:10.1371/journal.pone.0088410.
Su Z, Labaj PP, , et al. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. Nature biotechnology. 2014;32:903–914. doi:10.1038/nbt.2957.
F Carmona J, Davalos V, Vidal E, et al. A Comprehensive DNA Methylation Profile of Epithelial-to-Mesenchymal Transition. Cancer research. 2014;74:5608–19. doi:10.1158/0008-5472.CAN-13-3659.
F Carmona J, Davalos V, Vidal E, et al. A Comprehensive DNA Methylation Profile of Epithelial-to-Mesenchymal Transition. Cancer research. 2014;74:5608–19. doi:10.1158/0008-5472.CAN-13-3659.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López 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.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López 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.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López 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.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López 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.
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.
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.
Dopazo J. Genomics and transcriptomics in drug discovery. Drug discovery today. 2014;19:126-32. doi:10.1016/j.drudis.2013.06.003.
Desoignies N, Carbonell J, Moreau J-S, Conesa A, Dopazo J, Legrève A. Molecular interactions between sugar beet and Polymyxa betae during its life cycle. Annals of Applied Biology. 2014;164:244–256. doi:10.1111/aab.12095.
Desoignies N, Carbonell J, Moreau J-S, Conesa A, Dopazo J, Legrève A. Molecular interactions between sugar beet and Polymyxa betae during its life cycle. Annals of Applied Biology. 2014;164:244–256. doi:10.1111/aab.12095.
Tenorio J, Mansilla A, Valencia M, et al. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
Tenorio J, Mansilla A, Valencia M, et al. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-López J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014;30(12):1767-8. doi:10.1093/bioinformatics/btu108.
Calpena E, Martínez-Rubio D, Arpa J, et al. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. Neuromuscular disorders : NMD. 2014;24:660-5. doi:10.1016/j.nmd.2014.04.004.
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.
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.