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Journal Article
Carbonell J, Alloza E, Arce P, et al. A map of human microRNA variation uncovers unexpectedly high levels of variability. Genome medicine. 2012;4:62. doi:10.1186/gm363.
Esteban-Medina M, Loucera C, Rian K, et al. The mechanistic functional landscape of retinitis pigmentosa: a machine learning-driven approach to therapeutic target discovery. J Transl Med. 2024;22(1):139. doi:10.1186/s12967-024-04911-7.
Rian K, Esteban-Medina M, Hidalgo MR, et al. Mechanistic modeling of the SARS-CoV-2 disease map. BioData Min. 2021;14(1):5. doi:10.1186/s13040-021-00234-1.
Falco MM, Peña-Chilet M, Loucera C, Hidalgo MR, Dopazo J. Mechanistic models of signaling pathways deconvolute the glioblastoma single-cell functional landscapeAbstract. NAR Cancer. 2020;2(2). doi:10.1093/narcan/zcaa011.
Cubuk C, Can FE, Peña-Chilet M, Dopazo J. Mechanistic Models of Signaling Pathways Reveal the Drug Action Mechanisms behind Gender-Specific Gene Expression for Cancer Treatments. Cells. 2020;9(7). doi:10.3390/cells9071579.
Sola-García A, Cáliz-Molina MÁngeles, Espadas I, et al. Metabolic reprogramming by Acly inhibition using SB-204990 alters glucoregulation and modulates molecular mechanisms associated with aging. Commun Biol. 2023;6(1):250. doi:10.1038/s42003-023-04625-4.
Shi L, Campbell G, Jones WD, et al. The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models. Nature biotechnology. 2010;28:827-38. Available at: http://www.nature.com/nbt/journal/v28/n8/full/nbt.1665.html.
Corrales P, Martin-Taboada M, Vivas-García Y, et al. microRNAs-mediated regulation of insulin signaling in white adipose tissue during aging: Role of caloric restriction. Aging Cell. 2023:e13919. doi:10.1111/acel.13919.
Hidalgo MR, Amadoz A, Cubuk C, Carbonell-Caballero J, Dopazo J. Models of cell signaling uncover molecular mechanisms of high-risk neuroblastoma and predict disease outcome. Biol Direct. 2018;13(1):16. doi:10.1186/s13062-018-0219-4.
Ibáñez M, Carbonell-Caballero J, Such E, et al. The modular network structure of the mutational landscape of Acute Myeloid Leukemia. PLoS One. 2018;13(10):e0202926. doi:10.1371/journal.pone.0202926.
Montaner D, Dopazo J. Multidimensional gene set analysis of genomic data. PLoS One. 2010;5(4):e10348. doi:10.1371/journal.pone.0010348.
del Pozo MGonzález-, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One. 2011;6(12):e27894. doi:10.1371/journal.pone.0027894.
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.
Millán-Esteban D, Peña-Chilet M, García-Casado Z, et al. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development. Cancers (Basel). 2021;13(20). doi:10.3390/cancers13205219.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
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.
Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
Jimenez RC, Salazar GA, Gel B, Dopazo J, Mulder N, Corpas M. myKaryoView: a light-weight client for visualization of genomic data. PLoS One. 2011;6(10):e26345. doi:10.1371/journal.pone.0026345.
Serra F, Arbiza L, Dopazo J, Dopazo H. Natural selection on functional modules, a genome-wide analysis. PLoS Comput Biol. 2011;7(3):e1001093. doi:10.1371/journal.pcbi.1001093.
López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-López J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014;30(12):1767-8. doi:10.1093/bioinformatics/btu108.
Martin-Broto J, Hindi N, Grignani G, et al. Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.
Silbiger VN, Luchessi AD, Hirata RDC, et al. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta. 2013;421:184-90. doi:10.1016/j.cca.2013.03.011.
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
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.