Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (91)

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

  2. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

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

    Nature

  4. Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

  5. Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

    Journal of Clinical Medicine, Vol. 12, Núm. 7

  6. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  7. Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

    Nutrients, Vol. 15, Núm. 16

  8. Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy

    Diabetes, Vol. 72, Núm. 1, pp. 71-84

  9. Deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report

    Frontiers in Pharmacology, Vol. 14

  10. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  11. Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))

    Nature

  12. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

  13. HLA alleles: important pieces to the COVID-19 puzzle

    Trends in Immunology

  14. HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19

    HLA, Vol. 102, Núm. 6, pp. 731-739

  15. Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?

    Journal of Thoracic Disease, Vol. 15, Núm. 2, pp. 711-717

  16. NAD pool as an antitumor target against cancer stem cells in head and neck cancer

    Journal of Experimental and Clinical Cancer Research, Vol. 42, Núm. 1