Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (36)

2024

  1. The mechanistic functional landscape of retinitis pigmentosa: a machine learning-driven approach to therapeutic target discovery

    Journal of translational medicine, Vol. 22, Núm. 1, pp. 139

  2. drexml: A command line tool and Python package for drug repurposing

    Computational and Structural Biotechnology Journal, Vol. 23, pp. 1129-1143

2023

  1. A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

    Pharmaceutics, Vol. 15, Núm. 4

  2. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

  3. An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in rd10 Mice

    Antioxidants, Vol. 12, Núm. 1

  4. Clinical characterization and treatment outcomes of follicular cutaneous immune–related adverse events caused by immune checkpoint inhibitors: A multicenter retrospective study

    Journal of the American Academy of Dermatology, Vol. 88, Núm. 3, pp. 718-720

  5. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  6. Crosstalk between Metabolite Production and Signaling Activity in Breast Cancer

    International Journal of Molecular Sciences, Vol. 24, Núm. 8

  7. Genetic signature detected in T cell receptors from patients with severe COVID-19

    iScience, Vol. 26, Núm. 10

  8. microRNAs-mediated regulation of insulin signaling in white adipose tissue during aging: Role of caloric restriction

    Aging Cell, Vol. 22, Núm. 11

2022

  1. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884

  2. Benefits of SGLT2i for the Treatment of Heart Failure Irrespective of Diabetes Diagnosis: A State-of-the-Art Review

    Diabetes Therapy, Vol. 13, pp. 19-34

  3. Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations

    Clinical and Experimental Dermatology, Vol. 47, Núm. 1, pp. 129-135

  4. Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection

    Frontiers in Cell and Developmental Biology, Vol. 10

2021

  1. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  2. Evolution of angiogenic factors in pregnant patients with breast cancer treated with chemotherapy

    Cancers, Vol. 13, Núm. 4, pp. 1-12

  3. Genome-scale mechanistic modeling of signaling pathways made easy: A bioconductor/cytoscape/web server framework for the analysis of omic data

    Computational and Structural Biotechnology Journal, Vol. 19, pp. 2968-2978

  4. Immunotherapy in nonsmall-cell lung cancer: current status and future prospects for liquid biopsy

    Cancer Immunology, Immunotherapy, Vol. 70, Núm. 5, pp. 1177-1188

  5. Mechanistic modeling of the SARS-CoV-2 disease map

    BioData Mining, Vol. 14, Núm. 1

  6. Molecular basis of ndt‐mediated activation of nucleoside‐ based prodrugs and application in suicide gene therapy

    Biomolecules, Vol. 11, Núm. 1, pp. 1-12