Publicacions en col·laboració amb investigadors/es de Children's Hospital of Philadelphia (10)

2023

  1. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  2. Validation of a predictive model for obstructive sleep apnea in people with Down syndrome

    American Journal of Medical Genetics, Part A, Vol. 191, Núm. 2, pp. 518-525

2022

  1. A first update on mapping the human genetic architecture of COVID-19

    Nature

  2. Whole-genome sequencing reveals host factors underlying critical COVID-19

    Nature, Vol. 607, Núm. 7917, pp. 97-103

2021

  1. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

  2. Lipidomic-based advances in diagnosis and modulation of immune response to cancer

    Metabolites, Vol. 10, Núm. 8, pp. 1-15

  3. Lipidomics issues on human positive ssrna virus infection: An update

    Metabolites, Vol. 10, Núm. 9, pp. 1-22

2019

  1. Efficacy and safety of minimally invasive surgery with thrombolysis in intracerebral haemorrhage evacuation (MISTIE III): a randomised, controlled, open-label, blinded endpoint phase 3 trial

    The Lancet, Vol. 393, Núm. 10175, pp. 1021-1032

2017

  1. Increased mitochondrial nanotunneling activity, induced by calcium imbalance, affects intermitochondrial matrix exchanges

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 114, Núm. 5, pp. E849-E858