Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (274)

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. Clinical practice guideline on the management of vestibular schwannoma

    Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128

  4. Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation

    Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338

  5. 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

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

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

  7. Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

    Journal of Neurology, Vol. 271, Núm. 2, pp. 986-994

  8. 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

  9. Erratum: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome medicine (2023) 15 1 (22))

    Genome medicine

  10. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

    Journal of Human Genetics

  11. 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

  12. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

  13. Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

    Scientific Reports, Vol. 14, Núm. 1

  14. 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

  15. Madrid Newborn Sickle Cell Disease Cohort: clinical outcomes, stroke prevention and survival

    Annals of Hematology, Vol. 103, Núm. 2, pp. 373-383

  16. 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

  17. 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. Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

    International Journal of Molecular Sciences, Vol. 24, Núm. 16