Publicacións en colaboración con investigadores/as de Universidade de Lisboa (10)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2023

  1. Addressing influenza’s underestimated burden – Iberian experts call to action

    BMC Infectious Diseases

  2. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

2022

  1. Global, regional, and national disease burden estimates of acute lower respiratory infections due to respiratory syncytial virus in children younger than 5 years in 2019: a systematic analysis

    The Lancet, Vol. 399, Núm. 10340, pp. 2047-2064

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  3. Galactokinase deficiency: lessons from the GalNet registry

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

2019

  1. The natural history of classic galactosemia: Lessons from the GalNet registry

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

2017

  1. TERT, BRAF, and NRAS in primary thyroid cancer and metastatic disease

    Journal of Clinical Endocrinology and Metabolism, Vol. 102, Núm. 6, pp. 1898-1907

2014

  1. TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas

    Journal of Clinical Endocrinology and Metabolism, Vol. 99, Núm. 5