Publicaciones en colaboración con investigadores/as de Necker-Enfants Malades Hospital (15)

2022

  1. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 21

2021

  1. Association Between Laryngopharyngeal Reflux and Media Otitis: A Systematic Review

    Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, Vol. 42, Núm. 7, pp. e801-e814

  2. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

    Science immunology, Vol. 6, Núm. 62

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

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

  4. The YO-IFOS key points to write a good paper in otolaryngology

    European Annals of Otorhinolaryngology, Head and Neck Diseases, Vol. 138, pp. 2-5

2020

  1. Addition of maraviroc versus placebo to standard antiretroviral therapy for initial treatment of advanced HIV infection: A randomized trial

    Annals of Internal Medicine, Vol. 172, Núm. 5, pp. 297-305

  2. Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications

    Journal of Hepatology, Vol. 73, Núm. 2, pp. 328-341

2018

  1. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Journal of Clinical Investigation, Vol. 128, Núm. 10, pp. 4313-4328

2015

  1. Development and Validation of a Risk Score for Chronic Kidney Disease in HIV Infection Using Prospective Cohort Data from the D:A:D Study

    PLoS Medicine, Vol. 12, Núm. 3

  2. Dual treatment with lopinavir-ritonavir plus lamivudine versus triple treatment with lopinavir-ritonavir plus lamivudine or emtricitabine and a second nucleos(t)ide reverse transcriptase inhibitor for maintenance of HIV-1 viral suppression (OLE): A randomised, open-label, non-inferiority trial

    The Lancet Infectious Diseases, Vol. 15, Núm. 7, pp. 785-792

2014

  1. Opportunistic infections and AIDS malignancies early after initiating combination antiretroviral therapy in high-income countries

    AIDS, Vol. 28, Núm. 16, pp. 2461-2473

2013

  1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2009

  1. Expanding CEP290 mutational spectrumin ciliopathies

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 10, pp. 2173-2180

2007

  1. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

    American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113