AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Alison M. Muir, Vincent Procaccio et al.|Nature Communications|2019Cited by 248
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Tobias B. Haack, Ralf A. Husain et al.|The American Journal of Human Genetics|2022Cited by 22