Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (92)

2024

  1. A functional role for glycosylated B7-H5/VISTA immune checkpoint protein in metastatic clear cell renal cell carcinoma

    iScience, Vol. 27, Núm. 9

  2. A genome-wide association analysis reveals new pathogenic pathways in gout*

    Nature Genetics

  3. Association between exposure to air pollution and blood lipids in the general population of Spain

    European Journal of Clinical Investigation, Vol. 54, Núm. 2

  4. B7-H3: a robust target for immunotherapy in prostate cancer

    Trends in Cancer

  5. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

  6. Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

    Skeletal muscle, Vol. 14, Núm. 1, pp. 21

  7. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  8. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  9. Editorial: Co-inhibitory immune checkpoint proteins as biomarkers and therapeutic targets in cancer

    Translational Oncology

  10. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  11. IPCC2023: Looking for translational opportunities by persevering in basic pigment cell research

    Pigment Cell and Melanoma Research, Vol. 37, Núm. 5, pp. 546-554

  12. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

  13. Longitudinal transcriptional immune profiles and persistent wheezing in moderate-to-late preterm infants

    Pediatric Allergy and Immunology, Vol. 35, Núm. 10

  14. NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor

    International Journal of Molecular Sciences, Vol. 25, Núm. 18

  15. NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia

    Brain Structure and Function, Vol. 229, Núm. 5, pp. 1299-1315

  16. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  17. Potentiation by Protein Synthesis Inducers of Translational Readthrough of Pathogenic Premature Termination Codons in PTEN Isoforms

    Cancers, Vol. 16, Núm. 16

  18. Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age

    Frontiers in Endocrinology, Vol. 15

  19. The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis

    Metabolism: Clinical and Experimental, Vol. 158

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature