Publicaciones en colaboración con investigadoras/es de Hospital Universitario Nuestra Señora de Candelaria (18)

2024

  1. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

  2. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  3. Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

    Journal of Molecular Diagnostics, Vol. 26, Núm. 11, pp. 971-987

2023

  1. Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth

    Thorax, Vol. 78, Núm. 3, pp. 233-241

  2. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

  3. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

  4. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

  5. Human genetics influences microbiome composition involved in asthma exacerbations despite inhaled corticosteroid treatment

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 3, pp. 799-806.e6

  6. The upper-airway microbiome as a biomarker of asthma exacerbations despite inhaled corticosteroid treatment

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 3, pp. 706-715

2022

  1. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

2021

  1. Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use

    European Respiratory Journal, Vol. 57, Núm. 5

2020

  1. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

  2. Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants

    Pediatric Allergy and Immunology, Vol. 31, Núm. 2, pp. 124-132

  3. The genomics and metagenomics of asthma severity (GEMAS) study: Rationale and design

    Journal of Personalized Medicine, Vol. 10, Núm. 3, pp. 1-16

2019

  1. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. Quality of life in home-ventilated children and their families

    European Journal of Pediatrics, Vol. 176, Núm. 10, pp. 1307-1317

2016

  1. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

2015

  1. Risk factors for bronchiolitis, recurrent wheezing, and related hospitalization in preterm infants during the first year of life

    Pediatric Allergy and Immunology, Vol. 26, Núm. 8, pp. 797-804