Publikationen in Zusammenarbeit mit Forschern von University of Genoa (36)

2024

  1. Transfusion independence after lenalidomide discontinuation in patients with del(5q) myelodysplastic neoplasm: a HARMONY Alliance study

    Leukemia, Vol. 38, Núm. 10, pp. 2259-2265

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  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. Erratum: A European Observational Study to Evaluate the Safety and the Effectiveness of Safinamide in Routine Clinical Practice: The SYNAPSES Trial (Journal of Parkinson's Disease (2021) 11:1 (187-198) DOI: 10.3233/JPD-202224)

    Journal of Parkinson's Disease

2021

  1. A European observational study to evaluate the safety and the effectiveness of safinamide in routine clinical practice: The SynapSES trial

    Journal of Parkinson's Disease, Vol. 11, Núm. 1, pp. 187-198

  2. Genetic mechanisms of critical illness in COVID-19

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

  3. 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

  4. Mapping the human genetic architecture of COVID-19

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

2020

  1. The activation of prothrombin seems to play an earlier role than the complement system in the progression of colorectal cancer: A mass spectrometry evaluation

    Diagnostics, Vol. 10, Núm. 12

2019

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

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

  2. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11

  3. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730

2018

  1. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

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

    Cortex, Vol. 95, pp. 51-62

  2. 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

  3. 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

  2. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

    RMD Open, Vol. 2, Núm. 1

  3. Survey Definitions of Gout for Epidemiologic Studies: Comparison With Crystal Identification as the Gold Standard

    Arthritis Care and Research, Vol. 68, Núm. 12, pp. 1894-1898