Publicaciones en colaboración con investigadores/as de Oslo University Hospital (25)

2023

  1. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

    European heart journal, Vol. 44, Núm. 35, pp. 3357-3370

2022

  1. Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

    npj Genomic Medicine, Vol. 7, Núm. 1

2019

  1. Calmodulin mutations and life-threatening cardiac arrhythmias: Insights from the International Calmodulinopathy Registry

    European Heart Journal, Vol. 40, Núm. 35, pp. 2964-2975A

  2. GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

    Nature Communications, Vol. 10, Núm. 1

  3. Influence of antisynthetase antibodies specificities on antisynthetase syndrome clinical spectrum time course

    Journal of Clinical Medicine, Vol. 8, Núm. 11

2018

  1. Timing of onset affects arthritis presentation pattern in antisynthetase syndrome

    Clinical and Experimental Rheumatology, Vol. 36, Núm. 1, pp. 44-49

2017

  1. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

    American Journal of Human Genetics, Vol. 100, Núm. 1, pp. 64-74

  2. An MIF promoter polymorphism is associated with susceptibility to pulmonary arterial hypertension in diffuse cutaneous systemic sclerosis

    Journal of Rheumatology, Vol. 44, Núm. 10, pp. 1453-1457

2016

  1. Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies

    Arthritis and Rheumatology, Vol. 68, Núm. 9, pp. 2338-2344

2014

  1. A candidate gene approach identifies an IL33 genetic variant as a novel genetic risk factor for GCA

    PLoS ONE, Vol. 9, Núm. 11

  2. Influence of the IL17A locus in giant cell arteritis susceptibility

    Annals of the Rheumatic Diseases, Vol. 73, Núm. 9, pp. 1742-1745

2013

  1. Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

    Annals of the Rheumatic Diseases, Vol. 72, Núm. 4, pp. 602-607

  2. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

    Annals of the Rheumatic Diseases, Vol. 72, Núm. 11, pp. 1882-1886

  3. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility

    Annals of the Rheumatic Diseases, Vol. 72, Núm. 7, pp. 1233-1238

2012

  1. A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

    Arthritis Research and Therapy, Vol. 14, Núm. 2

  2. Influence of the IL6 gene in susceptibility to systemic sclerosis

    Journal of Rheumatology, Vol. 39, Núm. 12, pp. 2294-2302

  3. The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis

    Genes and Immunity, Vol. 13, Núm. 2, pp. 191-196

2011

  1. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

    Annals of the Rheumatic Diseases, Vol. 70, Núm. 4, pp. 638-641

  2. Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis

    Annals of the Rheumatic Diseases

  3. Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region

    Journal of Rheumatology, Vol. 38, Núm. 11, pp. 2290-2296