Publications

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2015
Ewing AD, Houlahan KE, Hu Y, et al. Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. participants ICGC-TCGADREAMSoma, Xi L, Dewal N, et al., eds. Nature methods. 2015. doi:10.1038/nmeth.3407.
Ewing AD, Houlahan KE, Hu Y, et al. Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. participants ICGC-TCGADREAMSoma, Xi L, Dewal N, et al., eds. Nature methods. 2015. doi:10.1038/nmeth.3407.
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, et al. Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Gene. 2015;571(1):52-7. doi:10.1016/j.gene.2015.06.039.
Sevilla T, Sivera R, Martínez-Rubio D, et al. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Eur J Neurol. 2015;22(12):1548-55. doi:10.1111/ene.12782.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Terol J, Ibañez V, Carbonell J, et al. Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation. BMC genomics. 2015;16:69. doi:10.1186/s12864-015-1280-3.
Terol J, Ibañez V, Carbonell J, et al. Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation. BMC Genomics. 2015;16:69. doi:10.1186/s12864-015-1280-3.
Eduati F, Mangravite LM, Wang T, et al. Prediction of human population responses to toxic compounds by a collaborative competition. Nature biotechnology. 2015. doi:10.1038/nbt.3299.
2016
Lupo V, Garcia-Garcia F, Sancho P, et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
Sanchez-Mut JV, Heyn H, Vidal E, et al. Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns. Transl Psychiatry. 2016;6:e718. doi:10.1038/tp.2015.214.
Sanchez-Mut JV, Heyn H, Vidal E, et al. Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns. Transl Psychiatry. 2016;6:e718. doi:10.1038/tp.2015.214.
Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.
Hillung J, Garcia-Garcia F, Dopazo J, Cuevas JM, Elena SF. The transcriptomics of an experimentally evolved plant-virus interaction. Sci Rep. 2016;6:24901. doi:10.1038/srep24901.
Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.