Publicaciones en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (4)

2020

  1. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

2018

  1. Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

    Scientific Reports, Vol. 8, Núm. 1

2016

  1. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

2013

  1. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

    Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 73-77