Publicaciones en colaboración con investigadores/as de Azienda Ospedaliero Universitaria di Sassari (21)

2024

  1. A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

    Scientific reports, Vol. 14, Núm. 1, pp. 3000

  2. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    eBioMedicine, Vol. 107

  3. Corrigendum: Efficacy and safety of Janus kinase inhibitors in non-infectious inflammatory ocular diseases: a prospective cohort study from the international AIDA network registries (Front. Med., 11, (1439338), (10.3389/fmed.2024.1439338))

    Frontiers in Medicine

  4. Dry eye disease and spondyloarthritis: expanding the spectrum of systemic inflammatory disorders associated with ocular surface disease. Data from the international AIDA Network Spondyloarthritis Registry

    Frontiers in Medicine, Vol. 11

  5. Effectiveness and Safety of Biosimilars in Pediatric Non-infectious Uveitis: Real-Life Data from the International AIDA Network Uveitis Registry

    Ophthalmology and Therapy, Vol. 13, Núm. 3, pp. 761-774

  6. Efficacy and safety of Janus kinase inhibitors in non-infectious inflammatory ocular diseases: a prospective cohort study from the international AIDA network registries

    Frontiers in Medicine, Vol. 11

  7. Impact of HLA-B51 on Uveitis and Retinal Vasculitis: Data from the AIDA International Network Registries on Ocular Inflammatory Disorders

    Ocular Immunology and Inflammation

  8. Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network

    Ophthalmology and Therapy, Vol. 13, Núm. 1, pp. 127-147

  9. Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry

    Seminars in Arthritis and Rheumatism, Vol. 66

  10. The Operating Room management for emergency Surgical Activity (ORSA) study: a WSES international survey

    Updates in Surgery, Vol. 76, Núm. 2, pp. 687-698

2023

  1. A patient-driven registry on Behçet’s disease: the AIDA for patients pilot project

    Frontiers in Medicine, Vol. 10

  2. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

2022

  1. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

    Human Genetics, Vol. 141, Núm. 1, pp. 147-173

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

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

  3. Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery

    BJS Open, Vol. 6, Núm. 1

2021

  1. Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

    Journal of Clinical Investigation, Vol. 131, Núm. 23

  2. Genetic mechanisms of critical illness in COVID-19

    Nature, Vol. 591, Núm. 7848, pp. 92-98

  3. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2015

  1. Morbidity and mortality in the antiphospholipid syndrome during a 10-year period: A multicentre prospective study of 1000 patients

    Annals of the Rheumatic Diseases, Vol. 74, Núm. 6, pp. 1011-1018

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135