Fast inexact mapping using advanced tree exploration on backward search methods. Submitted by iguillen on Tue, 06/11/2019 - 10:48 Salavert J, Tomás A, Tárraga J, Medina I, Dopazo J, Blanquer I. Fast inexact mapping using advanced tree exploration on backward search methods. BMC Bioinformatics. 2015;16:18. doi:10.1186/s12859-014-0438-3.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease Submitted by iguillen on Tue, 06/11/2019 - 10:47 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.
PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins. Submitted by iguillen on Tue, 06/11/2019 - 10:44 Minguez P, Letunic I, Parca L, et al. PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins. Nucleic Acids Res. 2015;43(Database issue):D494-502. doi:10.1093/nar/gku1081.
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Submitted by iguillen on Tue, 06/11/2019 - 10:43 Del Pozo MGonzález-, Bravo-Gil N, Méndez-Vidal C, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am J Med Genet A. 2015;167(7):1597-600. doi:10.1002/ajmg.a.37003.
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Submitted by iguillen on Tue, 06/11/2019 - 10:26 Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.
Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate. Submitted by iguillen on Tue, 06/11/2019 - 10:24 Fonseca RF, de Carvalho FM, Poletta FA, et al. Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate. Eur J Oral Sci. 2015;123(5):381-384. doi:10.1111/eos.12212.
A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces. Submitted by iguillen on Tue, 06/11/2019 - 10:23 Porta-Pardo E, García-Alonso L, Hrabe T, Dopazo J, Godzik A. A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces. PLoS Comput Biol. 2015;11(10):e1004518. doi:10.1371/journal.pcbi.1004518.
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Submitted by iguillen on Tue, 06/11/2019 - 10:22 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.
Global Transcriptome Analysis of Primary Cerebrocortical Cells: Identification of Genes Regulated by Triiodothyronine in Specific Cell Types. Submitted by iguillen on Tue, 06/11/2019 - 10:21 Gil-Ibañez P, Garcia-Garcia F, Dopazo J, Bernal J, Morte B. Global Transcriptome Analysis of Primary Cerebrocortical Cells: Identification of Genes Regulated by Triiodothyronine in Specific Cell Types. Cereb Cortex. 2017;27(1):706-717. doi:10.1093/cercor/bhv273.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Submitted by iguillen on Tue, 06/11/2019 - 10:21 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.
