Publications in collaboration with researchers from Catholic University of the Sacred Heart (39)

2023

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

    Frontiers in Medicine, Vol. 10

  2. Efficacy and Safety of Adalimumab in Pediatric Non-infectious Non-anterior Uveitis: Real-life Experience From the International AIDA Network Uveitis Registry

    Ophthalmology and Therapy, Vol. 12, Núm. 4, pp. 1957-1971

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

    Nature

  4. 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

  2. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

  3. Presentations of children to emergency departments across Europe and the COVID-19 pandemic: A multinational observational study

    PLoS medicine, Vol. 19, Núm. 8, pp. e1003974

2021

  1. Do high MICs predict the outcome in invasive fusariosis?

    The Journal of antimicrobial chemotherapy, Vol. 76, Núm. 4, pp. 1063-1069

  2. Mapping the human genetic architecture of COVID-19

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

  3. Trauma quality indicators: internationally approved core factors for trauma management quality evaluation

    World Journal of Emergency Surgery, Vol. 16, Núm. 1

2020

  1. Editor's Choice – European Society for Vascular Surgery (ESVS) 2020 Clinical Practice Guidelines on the Management of Acute Limb Ischaemia

    European Journal of Vascular and Endovascular Surgery, Vol. 59, Núm. 2, pp. 173-218

  2. Preparedness and Response to Pediatric COVID-19 in European Emergency Departments: A Survey of the REPEM and PERUKI Networks

    Annals of Emergency Medicine, Vol. 76, Núm. 6, pp. 788-800

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

  2. Method-dependent epidemiological cutoff values for detection of triazole resistance in Candida and Aspergillus species for the Sensititre Yeastone colorimetric broth and etest agar diffusion methods

    Antimicrobial Agents and Chemotherapy, Vol. 63, Núm. 1

  3. Post cholecystectomy bile duct injury: early, intermediate or late repair with hepaticojejunostomy – an E-AHPBA multi-center study

    HPB, Vol. 21, Núm. 12, pp. 1641-1647

2017

  1. ADHERE: randomized controlled trial comparing renal function in de novo kidney transplant recipients receiving prolonged-release tacrolimus plus mycophenolate mofetil or sirolimus

    Transplant International, Vol. 30, Núm. 1, pp. 83-95

  2. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

  3. Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

    Journal of Pediatrics, Vol. 189, pp. 72-78.e3

2016

  1. Off-label use of rituximab for systemic lupus erythematosus in Europe

    Lupus Science and Medicine, Vol. 3, Núm. 1

  2. Stakeholder cooperation to overcome challenges in orphan medicine development: The example of Duchenne muscular dystrophy

    The Lancet Neurology, Vol. 15, Núm. 8, pp. 882-890