Publicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (7)

2023

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

    Nature

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2017

  1. DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

    Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043

2015

  1. Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

    Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48

  2. Extrahepatic comorbidities associated with hepatitis C virus in HIV-infected patients

    Current Opinion in HIV and AIDS, Vol. 10, Núm. 5, pp. 309-315