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. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

   Aging Cell

4. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

   Science advances, Vol. 10, Núm. 41, pp. eadn6525

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

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

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

   Trends in Cancer

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

   eBioMedicine, Vol. 99

8. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

   Journal of Neurology

9. 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

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

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

11. Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series

    Actas Dermo-Sifiliograficas

12. 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

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

    Translational Oncology

14. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

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

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

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

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

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

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

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

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

19. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

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

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