Publications in collaboration with researchers from University of Pavia (20)

2024

  1. 2023 EULAR recommendations on imaging in diagnosis and management of crystal-induced arthropathies in clinical practice

    Annals of the Rheumatic Diseases, Vol. 83, Núm. 6, pp. 752-759

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

    Ocular Immunology and Inflammation

  3. Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

    Cell and Tissue Research, Vol. 396, Núm. 2, pp. 255-267

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

    Seminars in Arthritis and Rheumatism, Vol. 66

  5. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Brain, Vol. 147, Núm. 8, pp. 2652-2667

  6. Simulation to become a better neurosurgeon. An international prospective controlled trial: The Passion study

    Brain and Spine, Vol. 4

2023

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

    Nature

  2. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

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

2021

  1. Genetic mechanisms of critical illness in COVID-19

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

  2. Management of arterial partial pressure of carbon dioxide in the first week after traumatic brain injury: results from the CENTER-TBI study

    Intensive Care Medicine, Vol. 47, Núm. 9, pp. 961-973

  3. Mapping the human genetic architecture of COVID-19

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

2020

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

    Science, Vol. 370, Núm. 6515

  2. Luspatercept in patients with lower-risk myelodysplastic syndromes

    New England Journal of Medicine, Vol. 382, Núm. 2, pp. 140-151

2018

  1. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

    The Lancet Neurology, Vol. 17, Núm. 6, pp. 530-538

2017

  1. Performance of Ultrasound in the Diagnosis of Gout in a Multicenter Study: Comparison With Monosodium Urate Monohydrate Crystal Analysis as the Gold Standard

    Arthritis and Rheumatology, Vol. 69, Núm. 2, pp. 429-438

2016

  1. Development of Preliminary Remission Criteria for Gout Using Delphi and 1000Minds Consensus Exercises

    Arthritis Care and Research, Vol. 68, Núm. 5, pp. 667-672

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2013

  1. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

    The Lancet Neurology, Vol. 12, Núm. 12, pp. 1159-1169

2006

  1. Anti-inflammatory and immunosuppressive drugs and reproduction

    Arthritis Research and Therapy, Vol. 8, Núm. 3