Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)

2024

  1. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in rd10 Mice

    Antioxidants, Vol. 12, Núm. 1

  3. Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346

  4. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

  5. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

2022

  1. Gene co-expression architecture in peripheral blood in a cohort of remitted first-episode schizophrenia patients

    Schizophrenia, Vol. 8, Núm. 1

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. [Translated article] Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study

    Actas Dermo-Sifiliograficas, Vol. 113, Núm. 2, pp. T178-T182

2021

  1. GSE4-loaded nanoparticles a potential therapy for lung fibrosis that enhances pneumocyte growth, reduces apoptosis and DNA damage

    FASEB Journal, Vol. 35, Núm. 3

  2. Incidence of Melanoma in the Basque Province of Álava, Spain, From 2015 to 2018: A Descriptive Study

    Actas Dermo-Sifiliograficas

  3. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Nature Communications, Vol. 12, Núm. 1

2019

  1. A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

    Clinical Genetics

  2. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11

2016

  1. Limited beneficial effects of piceatannol supplementation on obesity complications in the obese Zucker rat: gut microbiota, metabolic, endocrine, and cardiac aspects

    Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 567-582

2010

  1. Mutación de novo I172N en paciente con déficit clásico de 21-hidroxilasa

    Medicina Clinica

  2. Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso

    Anales de Pediatria, Vol. 72, Núm. 1, pp. 72-78

2008

  1. Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile

    Revista de Neurologia, Vol. 47, Núm. 1, pp. 1-5