Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (89)

2024

  1. Apolipoprotein E-ϵ2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study

    Circulation Research, Vol. 134, Núm. 4, pp. 411-424

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

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

  3. Cross-sectional association between severe periodontitis and diabetes mellitus: A nation-wide cohort study

    Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 368-379

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

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

  5. Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo

    Science translational medicine, Vol. 16, Núm. 734, pp. eadg7962

  6. High prevalence of venous thrombotic events in Cushing’s syndrome: data from ERCUSYN and details in relation to surgery

    European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 75-85

  7. Long-term use of mepolizumab in a case of chronic eosinophilic pneumonia: extending interval dosing

    Journal of Asthma, Vol. 61, Núm. 1, pp. 69-71

  8. Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation

    Neuroradiology, Vol. 66, Núm. 3, pp. 389-398

  9. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

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

    Nature

  3. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

    GeroScience, Vol. 45, Núm. 1, pp. 543-553

  4. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  5. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

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

    Molecular Genetics and Metabolism Reports, Vol. 35

  7. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  8. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

  9. High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome

    European Journal of Neurology, Vol. 30, Núm. 2, pp. 538-547

  10. Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study

    British Journal of Cancer, Vol. 128, Núm. 1, pp. 137-147

  11. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

    Genes, Vol. 14, Núm. 7