Publicacións en colaboración con investigadores/as de University of Paris-Saclay (9)

2024

  1. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

2022

  1. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  2. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

  3. Glycogen storage disease type Ia: Current management options, burden and unmet needs

    Nutrients, Vol. 13, Núm. 11

2020

  1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

  2. Global Perspectives on Immunization During Pregnancy and Priorities for Future Research and Development: An International Consensus Statement

    Frontiers in Immunology, Vol. 11

2019

  1. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  2. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430