Publications in collaboration with researchers from Azienda Ospedaliero Universitaria di Sassari (17)

2024

  1. 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

  2. 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

  3. 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

  4. 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

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

    Ocular Immunology and Inflammation

  6. 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

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

    Seminars in Arthritis and Rheumatism, Vol. 66

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

2021

  1. Genetic mechanisms of critical illness in COVID-19

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

  2. 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

  2. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Human Mutation, Vol. 36, Núm. 12, pp. 1197-1204

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

2012

  1. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 404-413