Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (32)

2024

  1. NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

    Nucleic Acids Research, Vol. 52, Núm. 9, pp. e44

  2. Profile of plasma microRNAs as a potential biomarker of Wilson’s disease

    Journal of Gastroenterology, Vol. 59, Núm. 10, pp. 921-931

  3. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

    Gut

2023

  1. Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Epigenetics, Vol. 18, Núm. 1

  2. Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Zenodo

  3. Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Zenodo

  4. Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver

    Molecular Genetics and Metabolism Reports, Vol. 35

  5. Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia

    Haematologica, Vol. 108, Núm. 10, pp. 2652-2663

  6. Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

    The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159

  7. Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi

    Molecular Therapy Nucleic Acids, Vol. 34

  8. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

2022

  1. Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

    eLife, Vol. 11

  2. The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

    Communications Biology, Vol. 5, Núm. 1

2021

  1. Anti-TGFβ (Transforming Growth Factor β) Therapy With Betaglycan-Derived P144 Peptide Gene Delivery Prevents the Formation of Aortic Aneurysm in a Mouse Model of Marfan Syndrome

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 41, Núm. 9, pp. E440-E452

  2. eQTM catalogue in children's blood

    Dryad

2020

  1. Epigenetic SmAd3 repression in tumor-associated fibroblasts impairs fibrosis and response to the antifibrotic drug nintedanib in lung squamous cell carcinoma

    Cancer Research, Vol. 80, Núm. 2, pp. 276-290

  2. Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits

    Genome Research, Vol. 31, Núm. 12, pp. 1802-1814

  3. Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases

    American Journal of Human Genetics, Vol. 106, Núm. 6, pp. 846-858

  4. Vaginal metabolome: towards a minimally invasive diagnosis of microbial invasion of the amniotic cavity in women with preterm labor

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Corrigendum to “A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration” [Biochim. Biophys. Acta 1863 (2017) 801–809](S0925443917300078)(10.1016/j.bbadis.2017.01.003)

    Biochimica et Biophysica Acta - Molecular Basis of Disease