Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (16)

2024

  1. 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

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

    eLife, Vol. 13

  3. 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. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

    Nature, Vol. 623, Núm. 7988, pp. 803-813

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

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

  4. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

    Journal of Experimental Medicine, Vol. 220, Núm. 5

  5. 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

  6. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2022

  1. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

    Nature Immunology, Vol. 23, Núm. 2, pp. 159-164

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer

    Oncogene, Vol. 40, Núm. 16, pp. 2923-2935

  2. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

    Journal of Investigative Dermatology, Vol. 141, Núm. 12, pp. 2791-2796

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2015

  1. Digenic inheritance in cystinuria mouse model

    PLoS ONE, Vol. 10, Núm. 9