Drupal-Biblio17<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Metatranscriptomic analysis reveals gut microbiome bacterial genes in pyruvate and amino acid metabolism associated with hyperuricemia and gout in humans.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Characterization of the Common Genetic Variation in the Spanish Population of Navarre.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">HMGA1 regulates trabectedin sensitivity in advanced soft-tissue sarcoma (STS): A Spanish Group for Research on Sarcomas (GEIS) study.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs).</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evaluation of a combined detection of SARS-CoV-2 and its variants using real-time allele-specific PCR strategy: an advantage for clinical practice.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Endoglin and MMP14 Contribute to Ewing Sarcoma Spreading by Modulation of Cell-Matrix Interactions.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A comprehensive database for integrated analysis of omics data in autoimmune diseases.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">CSVS, a crowdsourcing database of the Spanish population genetic variability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Reporting guidelines for human microbiome research: the STORMS checklist.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">COVID-19 Disease Map, building a computational repository of SARS-CoV-2 virus-host interaction mechanisms.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Drug repurposing for COVID-19 using machine learning and mechanistic models of signal transduction circuits related to SARS-CoV-2 infection.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.</style>
Drupal-Biblio17<style face="normal" font="default" size="100%">[Impact assessment on data protection in research projects].</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mechanistic Models of Signaling Pathways Reveal the Drug Action Mechanisms behind Gender-Specific Gene Expression for Cancer Treatments.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Platform to study intracellular polystyrene nanoplastic pollution and clinical outcomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">SMN1 copy-number and sequence variant analysis from next-generation sequencing data.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A comparison of mechanistic signaling pathway activity analysis methods.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Differential metabolic activity and discovery of therapeutic targets using summarized metabolic pathway models.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Precision medicine needs pioneering clinical bioinformaticians.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The effects of death and post-mortem cold ischemia on human tissue transcriptomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The first complete genomic structure of Butyrivibrio fibrisolvens and its chromid.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Gene Expression Integration into Pathway Modules Reveals a Pan-Cancer Metabolic Landscape.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Models of cell signaling uncover molecular mechanisms of high-risk neuroblastoma and predict disease outcome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The modular network structure of the mutational landscape of Acute Myeloid Leukemia.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Graph-theoretical comparison of normal and tumor networks in identifying BRCA genes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">HGVA: the Human Genome Variation Archive.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">High throughput estimation of functional cell activities reveals disease mechanisms and predicts relevant clinical outcomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Reference genome assessment from a population scale perspective: an accurate profile of variability and noise.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Integrated gene set analysis for microRNA studies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Progress in pharmacogenetics: consortiums and new strategies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Fast inexact mapping using advanced tree exploration on backward search methods.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Using activation status of signaling pathways as mechanism-based biomarkers to predict drug sensitivity.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The role of the interactome in the maintenance of deleterious variability in human populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Defining the genomic signature of totipotency and pluripotency during early human development.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Inferring the functional effect of gene expression changes in signaling pathways.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mammosphere formation in breast carcinoma cell lines depends upon expression of E-cadherin.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pathways systematically associated to Hirschsprung's disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Discovering the hidden sub-network component in a ranked list of genes or proteins derived from genomic experiments.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Extensive translatome remodeling during ER stress response in mammalian cells.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">IL1β induces mesenchymal stem cells migration and leucocyte chemotaxis through NF-κB.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Differential expression in RNA-seq: a matter of depth.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evidence for short-time divergence and long-time conservation of tissue-specific expression after gene duplication.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">DNA methylation epigenotypes in breast cancer molecular subtypes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Functional genomics of 5- to 8-cell stage human embryos by blastomere single-cell cDNA analysis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Hypoxia promotes efficient differentiation of human embryonic stem cells to functional endothelium.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Multidimensional gene set analysis of genomic data.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Functional signatures identified in B-cell non-Hodgkin lymphoma profiles.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Gene set internal coherence in the context of functional profiling.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">SNOW, a web-based tool for the statistical analysis of protein-protein interaction networks.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Direct functional assessment of the composite phenotype through multivariate projection strategies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Expression and microarrays.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">PhylomeDB: a database for genome-wide collections of gene phylogenies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evidence for systems-level molecular mechanisms of tumorigenesis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">FatiGO +: a functional profiling tool for genomic data. Integration of functional annotation, regulatory motifs and interaction data with microarray experiments.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">ISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling.</style>