Publicaciones en colaboración con investigadores/as de University Medical Center Utrecht (43)

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

  2. Natural History of MYH7-Related Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461

  3. The Effect of Body Fat Distribution on Systemic Sclerosis

    Journal of Clinical Medicine, Vol. 11, Núm. 20

2021

  1. Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes

    Annals of the Rheumatic Diseases, Vol. 80, Núm. 8, pp. 1040-1047

  2. Genomic Risk Score impact on susceptibility to systemic sclerosis

    Annals of the Rheumatic Diseases, Vol. 80, Núm. 1, pp. 118-127

  3. Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

    European Journal of Heart Failure, Vol. 23, Núm. 8, pp. 1276-1286

2020

  1. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

    Scientific Reports, Vol. 10, Núm. 1

  2. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5

    Heart Rhythm, Vol. 17, Núm. 6, pp. 945-954

2019

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

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481

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

  3. Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort

    Arthritis and Rheumatology, Vol. 69, Núm. 6, pp. 1337-1338

  4. New insights into the genetic component of non-infectious uveitis through an Immunochip strategy

    Journal of Medical Genetics, Vol. 54, Núm. 1, pp. 38-46

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

  2. Influence of TYK2 in systemic sclerosis susceptibility: A new locus in the IL-12 pathway

    Annals of the Rheumatic Diseases, Vol. 75, Núm. 8, pp. 1521-1526

2015

  1. Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis

    Clinical and Experimental Rheumatology, Vol. 33, pp. 31-35

2014

  1. A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility

    Arthritis Research and Therapy, Vol. 16, Núm. 1

  2. Identification of IL12RB1 as a Novel Systemic Sclerosis Susceptibility Locus

    Arthritis and Rheumatology

2013

  1. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

    Human Molecular Genetics, Vol. 22, Núm. 19, pp. 4021-4029