Publications

470 results

2026

  1. Assessing exposure to outdoor urban air pollution throughout pregnancy (NELA birth cohort study) with the AIRNELA modelling system

    Atmospheric Environment: X, Vol. 30

  2. Clinical and molecular features of PRCD-associated retinopathy

    Acta Ophthalmologica

  3. DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype–Phenotype Correlations

    Genes, Vol. 17, Núm. 5

  4. Environmental risk factors for allergic rhinitis differ by income level: A Global Asthma Network survey

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 37, Núm. 4, pp. e70332

  5. Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

    Genome Medicine, Vol. 18, Núm. 1

  6. Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients

    Clinical Epigenetics, Vol. 18, Núm. 1

  7. Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency

    Molecular Psychiatry

  8. Nationwide public health surveillance systems for asthma prevention and control: no data, no (health) gain!

    Thorax

  9. New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

    Journal of Internal Medicine, Vol. 299, Núm. 1, pp. 126-142

  10. Perinatal tobacco smoke exposure in 12,405 mother-infant pairs: findings from the EISL Phase 3 in South America

    Allergologia et Immunopathologia, Vol. 54, Núm. 2, pp. 125-134

  11. Prevalence and risk factors of asthma, rhinoconjunctivitis and eczema in the very extreme environment of Naryn, Kyrgyzstan

    World Allergy Organization Journal, Vol. 19, Núm. 5

  12. Sun Exposure and Asthma Prevalence in Spanish Schoolchildren and Adolescents in the Global Asthma Network (GAN) Phase I Study: A Semi-Individual Cross-Sectional Study

    Journal of Clinical Medicine, Vol. 15, Núm. 16

  13. Traffic-related air pollution in utero modifies cytokine responses to stimuli of umbilical cord blood cells: a cohort study

    Environmental Research, Vol. 293

  14. Worldwide Impact of Human Development and Inequality on the Prevalence of Asthma, Rhinoconjunctivitis and Eczema. Global Asthma Network's Ecological Study

    Clinical and Experimental Allergy, Vol. 56, Núm. 9, pp. 1048-1062

2025

  1. Breastmilk polyamines modify gut gene expression in children at three months of age

    Clinical Nutrition, Vol. 46, pp. 80-87

  2. Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome

    Clinical Genetics, Vol. 107, Núm. 6, pp. 646-662

  3. Dynamics of the Epigenome, Microbiome, and Metabolome in Relation to Early Adiposity in the Maternal–Infant Axis: Protocol for a Prospective, Observational Pilot Study in the Spanish NEMO Cohort

    Journal of Clinical Medicine, Vol. 14, Núm. 19

  4. Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

  5. Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome

    Clinical Genetics

  6. Impact of environmental exposures on exhaled breath and lung function: NELA Birth Cohort

    ERJ Open Research, Vol. 11, Núm. 1