Publicaciones en colaboración con investigadoras/es de Hospital Universitario Nuestra Señora de Candelaria (46)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

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. 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

  4. 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

  2. Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers

    Cancer Epidemiology, Vol. 78

2021

  1. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  2. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

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

    European Respiratory Journal, Vol. 57, Núm. 5

  4. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units

    Intensive Care Medicine

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  3. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

  4. 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

  5. Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica

    Frontiers in Pediatrics, Vol. 8

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

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

  7. Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1

    International Journal of Molecular Sciences, Vol. 21, Núm. 22, pp. 1-18

2019

  1. ECLIM-SEHOP, a new platform to set up and develop international academic clinical trials for childhood cancer and blood disorders in Spain

    Clinical and Translational Oncology, Vol. 21, Núm. 12, pp. 1763-1770

  2. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798