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Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.
Mol Vis. 2013.
PMID: 24227914
Free PMC article.
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
Méndez-Vidal C, et al. Among authors: vela boza a.
BMC Genet. 2014 Dec 14;15:143. doi: 10.1186/s12863-014-0143-2.
BMC Genet. 2014.
PMID: 25494902
Free PMC article.
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Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
González-del Pozo M, Méndez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
González-del Pozo M, et al. Among authors: vela boza a.
PLoS One. 2014 Dec 29;9(12):e116176. doi: 10.1371/journal.pone.0116176. eCollection 2014.
PLoS One. 2014.
PMID: 25544989
Free PMC article.
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Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.
González-Del Pozo M, Méndez-Vidal C, Santoyo-Lopez J, Vela-Boza A, Bravo-Gil N, Rueda A, García-Alonso L, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
González-Del Pozo M, et al. Among authors: vela boza a.
Mol Genet Genomic Med. 2014 Mar;2(2):124-33. doi: 10.1002/mgg3.50. Epub 2013 Dec 3.
Mol Genet Genomic Med. 2014.
PMID: 24689075
Free PMC article.
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The role of the interactome in the maintenance of deleterious variability in human populations.
Garcia-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, Vela-Boza A, Santoyo-López J, Antiñolo G, Dopazo J.
Garcia-Alonso L, et al. Among authors: vela boza a.
Mol Syst Biol. 2014 Sep 26;10(9):752. doi: 10.15252/msb.20145222.
Mol Syst Biol. 2014.
PMID: 25261458
Free PMC article.
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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G.
Dopazo J, et al. Among authors: vela boza a.
Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13.
Mol Biol Evol. 2016.
PMID: 26764160
Free PMC article.
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Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).
Lagarde J, Uszczynska-Ratajczak B, Santoyo-Lopez J, Gonzalez JM, Tapanari E, Mudge JM, Steward CA, Wilming L, Tanzer A, Howald C, Chrast J, Vela-Boza A, Rueda A, Lopez-Domingo FJ, Dopazo J, Reymond A, Guigó R, Harrow J.
Lagarde J, et al. Among authors: vela boza a.
Nat Commun. 2016 Aug 17;7:12339. doi: 10.1038/ncomms12339.
Nat Commun. 2016.
PMID: 27531712
Free PMC article.
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A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium.
SEQC/MAQC-III Consortium.
SEQC/MAQC-III Consortium.
Nat Biotechnol. 2014 Sep;32(9):903-14. doi: 10.1038/nbt.2957. Epub 2014 Aug 24.
Nat Biotechnol. 2014.
PMID: 25150838
Free PMC article.
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