Publications en collaboration avec des chercheurs de Charité (29)

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. Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1

    Kidney International Reports, Vol. 9, Núm. 1, pp. 114-133

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. European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

    Nature Communications, Vol. 14, Núm. 1

  4. 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. Effects of Chronic Kidney Disease on Nanomechanics of the Endothelial Glycocalyx Are Mediated by the Mineralocorticoid Receptor

    International Journal of Molecular Sciences, Vol. 23, Núm. 18

2021

  1. Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

    Cell Reports, Vol. 36, Núm. 8

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

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

  3. Light-dependent effects of prefrontal rTMS on emotional working memory

    Brain Sciences, Vol. 11, Núm. 4

2020

  1. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

    Scientific Reports, Vol. 10, Núm. 1

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

    Science, Vol. 370, Núm. 6515

2018

  1. AmpliSeq screening of genes encoding the C-type lectin receptors and their signaling components reveals a common variant in MASP1 associated with pulmonary tuberculosis in an Indian population

    Frontiers in Immunology, Vol. 9, Núm. FEB

  2. Erratum to: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis (Nature Genetics, (2018), 50, 8, (1072-1080), 10.1038/s41588-018-0157-1)

    Nature Genetics

  3. Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

    Nature Genetics

2017

  1. Association between telomere length and risk of cancer and non-neoplastic diseases a mendelian randomization study

    JAMA Oncology, Vol. 3, Núm. 5, pp. 636-651

2016

  1. A phase III, randomized, controlled trial of apremilast in patients with psoriatic arthritis: Results of the PALACE 2 trial

    Journal of Rheumatology, Vol. 43, Núm. 9, pp. 1724-1734

  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. Iohexol plasma clearance for measuring glomerular filtration rate in clinical practice and research: A review. Part 1: How to measure glomerular filtration rate with iohexol?

    Clinical Kidney Journal, Vol. 9, Núm. 5, pp. 682-699