Publicacions en què col·labora amb M. Barreda Sánchez (10)

2024

  1. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    Genes, Vol. 15, Núm. 6

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

    eLife, Vol. 13

2023

  1. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

    GeroScience, Vol. 45, Núm. 1, pp. 543-553

  2. Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study

    Andrology, Vol. 11, Núm. 1, pp. 24-31

  3. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2022

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

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

  2. Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

    Scientific reports, Vol. 12, Núm. 1, pp. 10369

2021

  1. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

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

2019

  1. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2016

  1. Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115