Publicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (35)

2025

  1. AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities

    Clinical Genetics

  2. Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

    Communications biology, Vol. 8, Núm. 1, pp. 33

  3. The CNIC polypill (Acetylsalicylic acid + Atorvastatin + Rampril) in secondary prevention of cardiovascular disease in patients with type 2 diabetes: A comparative analysis with alternative therapeutic approaches

    International Journal of Cardiology, Vol. 418

2024

  1. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response

    Journal of Alzheimer's Disease, Vol. 98, Núm. 2, pp. 601-618

  2. 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

  3. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

    Communications biology, Vol. 7, Núm. 1, pp. 202

  4. Effectiveness of the CNIC polypill in secondary cardiovascular prevention in the subgroup of patients of the NEPTUNO study using atorvastatin doses of 20 mg

    Archivos de Cardiologia de Mexico, Vol. 94, Núm. 4, pp. 429-443

  5. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  6. Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63

    Scientific Reports, Vol. 14, Núm. 1

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

    eLife, Vol. 13

  8. The CNIC-polypill (acetylsalicylic acid, atorvastatin, and ramipril), an effective and cost-saving secondary prevention strategy compared with other therapeutic options in patients with ischaemic heart disease

    European Heart Journal Open, Vol. 4, Núm. 2

  9. Worldwide distribution of genetic factors related to severity of COVID-19 infection

    Annals of Human Biology, Vol. 51, Núm. 1

2023

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

    Nature

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

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

  3. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

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

    Nature

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

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

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

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

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

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

  8. 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