Publications in collaboration with researchers from Necker-Enfants Malades Hospital (15)

2023

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

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

  2. Pathophysiology of bone disease in chronic kidney disease: from basics to renal osteodystrophy and osteoporosis

    Frontiers in Physiology

  3. 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. Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

    Journal of Clinical Immunology

  3. Silver jubilee: 25 years of the first demonstration of the direct effect of phosphate on the parathyroid cell

    Nefrologia, Vol. 42, Núm. 6, pp. 645-655

2021

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

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

  2. HLA-D and PLA2R1 risk alleles associate with recurrent primary membranous nephropathy in kidney transplant recipients

    Kidney International, Vol. 99, Núm. 3, pp. 671-685

  3. Hyporesponsiveness or resistance to the action of parathyroid hormone in chronic kidney disease

    Nefrologia, Vol. 41, Núm. 5, pp. 514-528

  4. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

    Science immunology, Vol. 6, Núm. 62

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

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

    Science, Vol. 370, Núm. 6515

2019

  1. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

    Blood, Vol. 134, Núm. 3, pp. 277-290

  2. Pentoxifylline for renal protection in diabetic kidney disease. A model of old drugs for new horizons

    Journal of Clinical Medicine, Vol. 8, Núm. 3

2018

  1. Increased expression of ATP12A proton pump in cystic fibrosis airways

    JCI insight, Vol. 3, Núm. 20