Publicacións en colaboración con investigadores/as de Harvard Medical School (5)

2023

  1. Challenges and unmet needs in FPIES from the parents and adult patients’ perspective: An international survey

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 11, Núm. 4, pp. 1306-1309.e2

2022

  1. A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

    Journal of Neurodevelopmental Disorders, Vol. 14, Núm. 1

  2. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

2021

  1. Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

    JAMA - Journal of the American Medical Association, Vol. 325, Núm. 8, pp. 753-764

2020

  1. Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis: A prospective, population-based cohort study

    Clinical Infectious Diseases, Vol. 71, Núm. 10, pp. E614-E623