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Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331
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
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.
366 results