Publicaciones (34) Publicaciones de LOURDES ORTIZ FERNÁNDEZ

2024

  1. Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease

    Arthritis and Rheumatology, Vol. 76, Núm. 1, pp. 141-145

2023

  1. A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren’s Syndrome

    Clinical Reviews in Allergy and Immunology, Vol. 64, Núm. 3, pp. 392-411

  2. FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis

    Rheumatology (Oxford, England), Vol. 62, Núm. SI, pp. SI138-SI142

  3. Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing

    Annals of the Rheumatic Diseases, Vol. 82, Núm. 6, pp. 837-847

2022

  1. Hypomethylation of miR-17-92 cluster in lupus T cells and no significant role for genetic factors in the lupus-associated DNA methylation signature

    Annals of the Rheumatic Diseases, Vol. 81, Núm. 10, pp. 1428-1437

  2. Methylome and transcriptome profiling of giant cell arteritis monocytes reveals novel pathways involved in disease pathogenesis and molecular response to glucocorticoids

    Annals of the Rheumatic Diseases, Vol. 81, Núm. 9, pp. 1290-1300

2021

  1. Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet’s Disease

    Arthritis and Rheumatology, Vol. 73, Núm. 7, pp. 1244-1252

  2. Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability

    Frontiers in Medicine, Vol. 8

  3. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

    American Journal of Human Genetics, Vol. 108, Núm. 1, pp. 84-99

2020

  1. A longitudinal and transancestral analysis of DNA methylation patterns and disease activity in lupus patients

    JCI Insight, Vol. 5, Núm. 22

  2. Epigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci

    Genome Medicine, Vol. 12, Núm. 1

  3. Genetic variability in the expression of the SARS-CoV-2 host cell entry factors across populations

    Genes and Immunity, Vol. 21, Núm. 4, pp. 269-272

  4. The role of a functional variant of TYK2 in vasculitides and infections

    Clinical and Experimental Rheumatology, Vol. 38, Núm. 5, pp. 949-955

2019

  1. Behçet’s Disease

    Rare Diseases of the Immune System (Springer Nature), pp. 37-51

  2. Genetics of Antiphospholipid Syndrome

    Current Rheumatology Reports, Vol. 21, Núm. 12

2018

  1. Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus

    Scientific Reports, Vol. 8, Núm. 1

  2. Correction: Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis (Annals of the Rheumatic Diseases (2018) 77 (589-595) DOI: 10.1136/annrheumdis-2017-212372)

    Annals of the Rheumatic Diseases

  3. Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis

    Annals of the Rheumatic Diseases, Vol. 77, Núm. 4, pp. 589-595

  4. Monogenic Lupus: A Developing Paradigm of Disease

    Frontiers in Immunology, Vol. 9

2017

  1. Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

    Scientific Reports, Vol. 7, Núm. 1