Publications

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Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.
Lorente-Galdos B, Medina I, Morcillo-Suarez C, et al. Select your SNPs (SYSNPs): a web tool for automatic and massive selection of SNPs. International journal of data mining and bioinformatics. 2012;6:324-34. Available at: http://inderscience.metapress.com/content/f76740x8071u513n/.
Al-Shahrour F, Minguez P, Marqués-Bonet T, Gazave E, Navarro A, Dopazo J. Selection upon Genome Architecture: Conservation of Functional Neighborhoods with Changing Genes. PLoS Comput. Biol. 2010;6:e1000953. doi:doi:10.1371/journal.pcbi.1000953.
Arbiza L, Duchi S, Montaner D, et al. Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Biol. 2006;358:1390-404. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16584746.
Martin-Coello J, Dopazo H, Arbiza L, Ausio J, Roldan ER, Gomendio M. Sexual selection drives weak positive selection in protamine genes and high promoter divergence, enhancing sperm competitiveness. Proc Biol Sci. 2009. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19364735.
Martin-Coello J, Dopazo H, Arbiza L, Ausio J, Roldan ER, Gomendio M. Sexual selection drives weak positive selection in protamine genes and high promoter divergence, enhancing sperm competitiveness. Proc Biol Sci. 2009. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19364735.
Gundogdu P, Alamo I, Nepomuceno-Chamorro IA, Dopazo J, Loucera C. SigPrimedNet: A Signaling-Informed Neural Network for scRNA-seq Annotation of Known and Unknown Cell Types. Biology (Basel). 2023;12(4). doi:10.3390/biology12040579.
Rattei T, Tischler P, Götz S, et al. SIMAP–a comprehensive database of pre-calculated protein sequence similarities, domains, annotations and clusters. Nucleic acids research. 2010;38:D223-6.
López-López D, Loucera C, Carmona R, et al. SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
López-López D, Loucera C, Carmona R, et al. SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
Minguez P, Gotz S, Montaner D, Al-Shahrour F, Dopazo J. SNOW, a web-based tool for the statistical analysis of protein-protein interaction networks. Nucl. Acids Res. 2009;37:W109-114. doi:10.1093/nar/gkp402.
Minguez P, Götz S, Montaner D, Al-Shahrour F, Dopazo J. SNOW, a web-based tool for the statistical analysis of protein-protein interaction networks. Nucleic Acids Res. 2009;37(Web Server issue):W109-14. doi:10.1093/nar/gkp402.
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Calzada D, Aguerri M, Baos S, et al. Therapeutic targets for olive pollen allergy defined by gene markers modulated by Ole e 1-derived peptides. Molecular immunology. 2015;64:252-61. doi:10.1016/j.molimm.2014.12.002.
Agudo M, Perez-Marin MC, Lonngren U, et al. Time course profiling of the retinal transcriptome after optic nerve transection and optic nerve crush. Mol Vis. 2008;14:1050-63. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18552980.
Gandia M, Conesa A, Ancillo G, et al. Transcriptional response of Citrus aurantifolia to infection by Citrus tristeza virus. Virology. 2007;367:298-306. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17617431.
León C, Garcia-Garcia F, Llames S, et al. Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response. Genes (Basel). 2020;12(1). doi:10.3390/genes12010047.
Carcel-Trullols J, Aguilar-Gallardo C, García-Alcalde F, et al. Transdifferentiation of MALME-3M and MCF-7 Cells toward Adipocyte-like Cells is Dependent on Clathrin-mediated Endocytosis. SpringerPlus. 2012;1:44. doi:10.1186/2193-1801-1-44.
Haibe-Kains B, Adam GAlexandru, Hosny A, et al. Transparency and reproducibility in artificial intelligence. Nature. 2020;586(7829):E14-E16. doi:10.1038/s41586-020-2766-y.
Haibe-Kains B, Adam GAlexandru, Hosny A, et al. Transparency and reproducibility in artificial intelligence. Nature. 2020;586(7829):E14-E16. doi:10.1038/s41586-020-2766-y.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.