Key publications

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability
Jul 2016 in Molecular Genetics and Genomic Medicine
DOI: https://doi.org/10.1002/mgg3.219
Research output: Contribution to Journal › Article (Published)

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice
5 Apr 2017 in Scientific Reports
DOI: https://doi.org/10.1038/srep46019
Research output: Contribution to Journal › Article (Published)

The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders
29 Oct 2018 in Human Mutation: Variation, Informatics and Disease
DOI: https://doi.org/10.1002/humu.23677
Research output: Contribution to Journal › Review article (E-pub ahead of print)

Translation elongation factor 1A2 (eEF1A2) is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish
31 Jan 2020 in Bioscience reports
DOI: https://doi.org/10.1042/BSR20194191
Research output: Contribution to Journal › Article (E-pub ahead of print)

Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function
15 May 2020 in Human Molecular Genetics, vol. 29, pp. 1592–1606
DOI: https://doi.org/10.1093/hmg/ddaa042
Research output: Contribution to Journal › Article (Published)

View all 100 publications on Research Explorer

Data last updated: 14/12/2022 at 10:55