Publications in collaboration with researchers from Hospital Universitario de Donostia (6)

2024

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

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

2023

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

    Pulmonology

  2. 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

2020

  1. New cis-acting variants in PI∗S background produce null phenotypes causing alpha-1 antitrypsin deficiency

    American Journal of Respiratory Cell and Molecular Biology, Vol. 63, Núm. 4, pp. 444-451

  2. Precision medicine in childhood asthma: Omic studies of treatment response

    International Journal of Molecular Sciences, Vol. 21, Núm. 8

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

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