Publications in collaboration with researchers from Hospital Universitario Nuestra Señora de Candelaria (197)

2026

  1. A bench-to-data analysis workflow for respiratory syncytial virus whole-genome sequencing with short and long-read approaches

    Genome Medicine, Vol. 18, Núm. 1

  2. A prolonged Delta SARS-CoV-2 infection during the Omicron wave in an HIV immunosuppressed patient

    International Journal of Infectious Diseases, Vol. 162

  3. Association Between Maternal Gestational Diabetes, Cord Blood DNA Methylation, and Offspring Neurodevelopment

    International Journal of Molecular Sciences, Vol. 27, Núm. 8

  4. Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callers

    Cell Genomics, Vol. 6, Núm. 4

  5. Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 123, Núm. 12

  6. Infants exposed to maternal type 1 diabetes: intrauterine epigenetic modifications and neurological development

    Frontiers in Endocrinology, Vol. 17

  7. Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema

    Acta Medica Portuguesa, Vol. 39, Núm. 4, pp. 299-302

  8. Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome

    Respiratory research, Vol. 27, Núm. 1

2025

  1. A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

    Journal of Experimental Medicine, Vol. 222, Núm. 2

  2. A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice

    European Journal of Human Genetics, Vol. 33, Núm. 11, pp. 1509-1519

  3. Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

    Nature Communications , Vol. 16, Núm. 1

  4. Genetic variability of Shiga toxin-producing Escherichia coli strains isolated from Paraguayan cattle

    Microbiology spectrum, Vol. 13, Núm. 10, pp. e0059625

  5. Genome-wide association study of susceptibility to acute respiratory distress syndrome

    eBioMedicine, Vol. 120

  6. Identifying sepsis susceptibility genes in post-surgical patients using an artificial intelligence approach

    Frontiers in Medicine, Vol. 12

  7. Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

    Biomedicines, Vol. 13, Núm. 3

  8. Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis

    ERJ Open Research, Vol. 11, Núm. 5

  9. Small variant benchmark from a complete assembly of X and Y chromosomes

    Nature communications, Vol. 16, Núm. 1, pp. 497

  10. Whole Exome Sequencing in Drug-Induced Angioedema Caused by Angiotensin-Converting Enzyme Inhibitors: A Pilot Study in Five Patients

    Journal of Clinical Medicine, Vol. 14, Núm. 5

2024

  1. A genome-wide association study of adults with community-acquired pneumonia

    Respiratory Research, Vol. 25, Núm. 1

  2. Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis

    ERJ Open Research, Vol. 10, Núm. 1