Echa un vistazo a nuestras últimas publicaciones
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M, Costa-Roger M, Pérez-García D, Flores R, Palacios-Verdú MG, Cusco I, Pérez-Jurado LA.
J Med Genet. 2019 Aug 14. pii: jmedgenet-2019-106080. doi: 10.1136/jmedgenet-2019-106080.
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E.
Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10. Review.
Clinical implication of FMR1 intermediate alleles in a Spanish population.
Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M.
Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257.
Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.
Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J.
Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943.
High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing.
Lagarde J, Uszczynska-Ratajczak B, Carbonell S, Pérez-Lluch S, Abad A, Davis C, Gingeras TR, Frankish A, Harrow J, Guigo R, Johnson R.
Nat Genet. 2017 Dec;49(12):1731-1740. doi: 10.1038/ng.3988. Epub 2017 Nov 6.
Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.
Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, González JR, Rodríguez-Santiago B, Argente J, Pérez-Jurado LA.
PLoS Genet. 2017 May 10;13(5):e1006657. doi: 10.1371/journal.pgen.1006657. eCollection 2017 May.
Mosaic loss of chromosome Y is associated with common variation near TCL1A.
Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, Caporaso N, Teras LT, Gaudet MM, Gapstur SM, Stevens VL, Jacobs KB, Sampson J, Albanes D, Weinstein S, Rodriguez-Santiago B, Perez-Jurado LA, et al.
Nat Genet. 2016 May;48(5):563-8. doi: 10.1038/ng.3545. Epub 2016 Apr 11.
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X.
Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.