Publicacións en colaboración con investigadores/as de University of Genoa (10)

2023

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

    Nature

2022

  1. First international workshop of the ATM and cancer risk group (4-5 December 2019)

    Familial Cancer, Vol. 21, Núm. 2, pp. 211-227

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

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. Endotoxin-induced lung alveolar cell injury causes brain cell damage

    Experimental Biology and Medicine, Vol. 240, Núm. 1, pp. 135-142

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

    Seizure

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

    Seizure, Vol. 25, pp. 65-67

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

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

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

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

2014

  1. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144