Publicaciones en colaboración con investigadores/as de University of Padua (80)

2024

  1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

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

    Seminars in Arthritis and Rheumatism, Vol. 66

2023

  1. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

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

    Nature

  3. Fluctuation of Anti–Domain 1 and Anti–β2-Glycoprotein I Antibody Titers Over Time in Patients With Persistently Positive Antiphospholipid Antibodies

    Arthritis and Rheumatology, Vol. 75, Núm. 6, pp. 984-995

  4. Parental help-seeking behaviour for, and care of, a sick or injured child during the COVID-19 pandemic: a European online survey

    BMC Health Services Research, Vol. 23, Núm. 1

  5. The 2023 ACR/EULAR Classification Criteria for Calcium Pyrophosphate Deposition Disease

    Arthritis and Rheumatology, Vol. 75, Núm. 10, pp. 1703-1713

  6. The 2023 ACR/EULAR classification criteria for calcium pyrophosphate deposition disease

    Annals of the Rheumatic Diseases, Vol. 82, Núm. 10, pp. 1248-1257

  7. The multi-societal European consensus on the terminology, diagnosis and management of patients with synchronous colorectal cancer and liver metastases: an E-AHPBA consensus in partnership with ESSO, ESCP, ESGAR, and CIRSE

    HPB, Vol. 25, Núm. 9, pp. 985-999

  8. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Children living with HIV in Europe: do migrants have worse treatment outcomes?

    HIV Medicine, Vol. 23, Núm. 2, pp. 186-196

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

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

  3. Diagnostic variation for febrile children in European emergency departments

    European Journal of Pediatrics, Vol. 181, Núm. 6, pp. 2481-2490

  4. Identifying Potential Classification Criteria for Calcium Pyrophosphate Deposition Disease: Item Generation and Item Reduction

    Arthritis Care and Research, Vol. 74, Núm. 10, pp. 1649-1658

  5. 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

  6. Pregnancy outcomes in antiphospholipid antibody positive patients: prospective results from the AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) Clinical Database and Repository ( € Registry')

    Lupus Science and Medicine, Vol. 9, Núm. 1

2021

  1. Children with progressive and relapsed pleuropulmonary blastoma: A European collaborative analysis

    Pediatric Blood and Cancer, Vol. 68, Núm. 12

  2. Consensus recommendations from the EXPeRT/PARTNER groups for the diagnosis and therapy of sex cord stromal tumors in children and adolescents

    Pediatric Blood and Cancer, Vol. 68, Núm. S4

  3. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)

    Genetics in Medicine

  4. European League against Rheumatism (EULAR)/American College of Rheumatology (ACR) SLE classification criteria item performance

    Annals of the Rheumatic Diseases, Vol. 80, Núm. 6, pp. 775-781