Home

Publications

Export 324 results:
Author Title [ Type(Asc)] Year
Filters: First Letter Of Last Name is P  [Clear All Filters]
Journal Article
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.
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. Human molecular genetics. 2015;24:4037-4048. doi:10.1093/hmg/ddv140.
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.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 2017;18:48. doi:10.1186/s13059-017-1174-6.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biology. 2017;18(1). doi:10.1186/s13059-017-1174-6.
Gawron P, Hoksza D, Piñero J, et al. Visualization of automatically combined disease maps and pathway diagrams for rare diseases. Front Bioinform. 2023;3:1101505. doi:10.3389/fbinf.2023.1101505.
Gawron P, Hoksza D, Piñero J, et al. Visualization of automatically combined disease maps and pathway diagrams for rare diseases. Front Bioinform. 2023;3:1101505. doi:10.3389/fbinf.2023.1101505.
Garrido-Rodriguez M, López-López D, Ortuno FM, et al. A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PLoS Comput Biol. 2021;17(2):e1008748. doi:10.1371/journal.pcbi.1008748.
Peña-Chilet M, Esteban-Medina M, Falco MM, et al. Using mechanistic models for the clinical interpretation of complex genomic variation. Scientific Reports. 2019;9(1). doi:10.1038/s41598-019-55454-7.
Casimiro-Soriguer CS, Rigual MM, Brokate-Llanos AM, et al. Using AnABlast for intergenic sORF prediction in the Caenorhabditis elegans genome. Bioinformatics. 2020;36(19):4827-4832. doi:10.1093/bioinformatics/btaa608.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two Novel Mutations in the BCKDK Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral Deficit in two Pediatric Unrelated Patients. Human mutation. 2014;35:470-7. 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.
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.
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.
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.
Stierum R, Conesa A, Heijne W, et al. Transcriptome analysis provides new insights into liver changes induced in the rat upon dietary administration of the food additives butylated hydroxytoluene, curcumin, propyl gallate and thiabendazole. Food Chem Toxicol. 2008;46:2616-28. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18539377.
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.
Galvez JM, Castillo-Secilla D, Herrera LJ, et al. Towards Improving Skin Cancer Diagnosis by Integrating Microarray and RNA-Seq Datasets. IEEE J Biomed Health Inform. 2020;24(7):2119-2130. doi:10.1109/JBHI.2019.2953978.
Casimiro-Soriguer CS, Loucera C, Peña-Chilet M, Dopazo J. Towards a metagenomics machine learning interpretable model for understanding the transition from adenoma to colorectal cancer. Sci Rep. 2022;12(1):450. doi:10.1038/s41598-021-04182-y.
Eswar N, John B, Mirkovic N, et al. Tools for comparative protein structure modeling and analysis. Nucleic Acids Res. 2003;31:3375-80. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12824331.
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.
Méndez-Salazar EOrlando, Vázquez-Mellado J, Casimiro-Soriguer CS, et al. Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism. Mol Med. 2021;27(1):50. doi:10.1186/s10020-021-00311-5.
Méndez-Salazar EOrlando, Vázquez-Mellado J, Casimiro-Soriguer CS, et al. Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism. Mol Med. 2021;27(1):50. doi:10.1186/s10020-021-00311-5.
Cuenca-Bono B, García-Molinero V, Pascual-García P, et al. SUS1 introns are required for efficient mRNA nuclear export in yeast. Nucleic acids research. 2011;39:8599-611.
Gabaldón T, Peretó J, Montero F, Gil R, Latorre A, Moya A. Structural analyses of a hypothetical minimal metabolism. Philos Trans R Soc Lond B Biol Sci. 2007;362:1751-62. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17510022.