Publikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (83)

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

    eBioMedicine, Vol. 99

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

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

  6. 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

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

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

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

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

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

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

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

    eLife, Vol. 13

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

    Frontiers in Endocrinology, Vol. 15

2023

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

    Nature

  2. Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346

  3. 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

  4. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

  5. Gut microbial dysbiosis in patients with Cushing’s disease in long-term remission. Relationship with cardiometabolic risk

    Frontiers in Endocrinology, Vol. 14

  6. Lymphatic Malformations in Parkes Weber’s Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center

    European Journal of Pediatric Surgery, Vol. 34, Núm. 1, pp. 78-83

  7. Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202

  8. On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome

    Kidney International, Vol. 104, Núm. 4, pp. 851-855

  9. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1