Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (59)

2024

  1. Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study

    The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944

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. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

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

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

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

  6. 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

  7. 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

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

    Nature

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

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

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

    Trends in Immunology

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

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

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

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

  13. 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

  14. Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19

    Translational Psychiatry, Vol. 13, Núm. 1

  15. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

2022

  1. An updated view on human neonatal thermogenesis

    Nature Reviews Endocrinology

  2. How Executive Functions Correlate with Intelligence in Children and Adolescents in Autism Spectrum Disorders

    Journal of Cognition and Development, Vol. 23, Núm. 5, pp. 776-790

  3. Hypothalamic pregnenolone mediates recognition memory in the context of metabolic disorders

    Cell Metabolism, Vol. 34, Núm. 2, pp. 269-284.e9

  4. Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

    eLife, Vol. 11