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Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
Corton M, Avila-Fernández A, Campello L, Sánchez M, Benavides B, López-Molina MI, Fernández-Sánchez L, Sánchez-Alcudia R, da Silva LRJ, Reyes N, Martín-Garrido E, Zurita O, Fernández-San José P, Pérez-Carro R, García-García F, Dopazo J, García-Sandoval B, Cuenca N, Ayuso C. Corton M, et al. Sci Rep. 2016 Oct 13;6:35370. doi: 10.1038/srep35370. Sci Rep. 2016. PMID: 27734943 Free PMC article.
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C. Avila-Fernandez A, et al. Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16. Hum Mol Genet. 2015. PMID: 25882705
BRCA1 Alternative splicing landscape in breast tissue samples.
Romero A, García-García F, López-Perolio I, Ruiz de Garibay G, García-Sáenz JA, Garre P, Ayllón P, Benito E, Dopazo J, Díaz-Rubio E, Caldés T, de la Hoya M. Romero A, et al. BMC Cancer. 2015 Apr 3;15:219. doi: 10.1186/s12885-015-1145-9. BMC Cancer. 2015. PMID: 25884417 Free PMC article.
Babelomics 5.0: functional interpretation for new generations of genomic data.
Alonso R, Salavert F, Garcia-Garcia F, Carbonell-Caballero J, Bleda M, Garcia-Alonso L, Sanchis-Juan A, Perez-Gil D, Marin-Garcia P, Sanchez R, Cubuk C, Hidalgo MR, Amadoz A, Hernansaiz-Ballesteros RD, Alemán A, Tarraga J, Montaner D, Medina I, Dopazo J. Alonso R, et al. Nucleic Acids Res. 2015 Jul 1;43(W1):W117-21. doi: 10.1093/nar/gkv384. Epub 2015 Apr 20. Nucleic Acids Res. 2015. PMID: 25897133 Free PMC article.
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Lupo V, García-García F, Sancho P, Tello C, García-Romero M, Villarreal L, Alberti A, Sivera R, Dopazo J, Pascual-Pascual SI, Márquez-Infante C, Casasnovas C, Sevilla T, Espinós C. Lupo V, et al. J Mol Diagn. 2016 Mar;18(2):225-34. doi: 10.1016/j.jmoldx.2015.10.005. Epub 2016 Jan 2. J Mol Diagn. 2016. PMID: 26752306 Free article.
397 results