Publicacións en colaboración con investigadores/as de Children's Hospital of Eastern Ontario (3)

2019

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

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138

2017

  1. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    American Journal of Human Genetics