Publicaciones en colaboración con investigadores/as de Boston Children's Hospital (6)

2024

  1. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    eBioMedicine, Vol. 107

  2. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA

    Hepatology (Baltimore, Md.), Vol. 79, Núm. 6, pp. 1279-1292

  3. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

  1. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

2018

  1. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Journal of Clinical Investigation, Vol. 128, Núm. 10, pp. 4313-4328