Publicacions en col·laboració amb investigadors/es de University Hospital of Lausanne (19)

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. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

    Human Genetics and Genomics Advances, Vol. 5, Núm. 3

2023

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

    Nature

  2. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia (Nature Genetics, (2022), 54, 11, (1621-1629), 10.1038/s41588-022-01192-y)

    Nature Genetics

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

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

  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. Oxidative stress induced by sustained supraphysiological intrastriatal GDNF delivery is prevented by dose regulation

    Molecular Therapy - Methods and Clinical Development, Vol. 31

  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. Discovery of 42 genome-wide significant loci associated with dyslexia

    Nature Genetics, Vol. 54, Núm. 11, pp. 1621-1629

2021

  1. 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

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

  1. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

2017

  1. Antithrombotic treatment with direct-acting oral anticoagulants in patients with splanchnic vein thrombosis and cirrhosis

    Liver International, Vol. 37, Núm. 5, pp. 694-699

2016

  1. A regulatable AAV vector mediating GDNF biological effects at clinically-approved sub-antimicrobial doxycycline doses

    Molecular Therapy - Methods and Clinical Development, Vol. 3, pp. 16027

  2. 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

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

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

  4. Long-term controlled GDNF over-expression reduces dopamine transporter activity without affecting tyrosine hydroxylase expression in the rat mesostriatal system

    Neurobiology of Disease, Vol. 88, pp. 44-54

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544