Jimmy Lloyd Holder

The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.

This study shows that SYNGAP1 loss-of-function in human neurons leads to enhanced dendritic morphogenesis, increased excitatory synapses, and altered network activity.

This study shows that restoring SynGAP protein in adult Syngap1 heterozygous mice improves memory, seizure susceptibility, and brain activity patterns.