Publicaciones en colaboración con investigadores/as de Hospital Universitario Araba (21)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

  1. Contemporary use of cefazolin for MSSA infective endocarditis: analysis of a national prospective cohort

    International Journal of Infectious Diseases, Vol. 137, pp. 134-143

  2. Meta-analysis of the effects of adjuvant drugs in co-occurring bipolar and substance use disorder

    Revista de Psiquiatria y Salud Mental

2022

  1. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Clinical Epigenetics, Vol. 14, Núm. 1

  2. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

    Clinical Epigenetics, Vol. 14, Núm. 1

  3. Outpatient Parenteral Antibiotic Treatment vs Hospitalization for Infective Endocarditis: Validation of the OPAT-GAMES Criteria

    Open Forum Infectious Diseases, Vol. 9, Núm. 9

  4. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Clinical Epigenetics, Vol. 14, Núm. 1

2020

  1. The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

    Nucleic acids research, Vol. 48, Núm. 20, pp. 11394-11407

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Role of age and comorbidities in mortality of patients with infective endocarditis

    European Journal of Internal Medicine, Vol. 64, pp. 63-71

2018

  1. Gentamicin may have no effect on mortality of staphylococcal prosthetic valve endocarditis

    Journal of Infection and Chemotherapy, Vol. 24, Núm. 7, pp. 555-562

  2. Risk factors of pericardial effusion in native valve infective endocarditis and its influence on outcome: A multicenter prospective cohort study

    International Journal of Cardiology, Vol. 273, pp. 193-198

2017

  1. Infective endocarditis in patients with cancer: A consequence of invasive procedures or a harbinger of neoplasm? A prospective, multicenter cohort

    Medicine (United States), Vol. 96, Núm. 38

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

2015

  1. A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

    Clinical Genetics, Vol. 88, Núm. 6, pp. 579-583

  2. Current epidemiology and outcome of infective endocarditis: A multicenter, prospective, cohort study

    Medicine (United States), Vol. 94, Núm. 43

  3. Left-sided infective endocarditis in patients with liver cirrhosis

    Journal of Infection, Vol. 71, Núm. 6, pp. 627-641

2013

  1. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

    Human Mutation, Vol. 34, Núm. 4, pp. 595-602

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2011

  1. Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism

    Journal of Medical Genetics, Vol. 48, Núm. 3, pp. 212-216