Publications in collaboration with researchers from Children's Hospital of Eastern Ontario (3)

2020

  1. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

    EMBO Journal, Vol. 39, Núm. 23

2019

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

    Nature Communications, Vol. 10, Núm. 1

2017

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

    American Journal of Human Genetics