Publicacións en colaboración con investigadores/as de University of Genoa (6)

2023

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

    Nature

2016

  1. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

    International Journal of Legal Medicine, Vol. 130, Núm. 2, pp. 331-339

2015

  1. Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))

    Seizure

  2. Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

    Seizure, Vol. 25, pp. 65-67

  3. Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

    International Journal of Legal Medicine, Vol. 129, Núm. 3, pp. 495-504

  4. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581