Mark S. LeDoux

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

This study identifies PRRT2 as a key hub in an epilepsy network disrupted by 16p11.2 duplication and shows its correction rescues multiple neuropsychiatric and seizure-related phenotypes in mice.

Bidirectional cooperation between Ubtf1 and SL1 determines RNA Polymerase I promoter recognition in cell and is negatively affected in the UBTF-E210K neuroregression syndrome.

The paper shows that UBTF1 and SL1 cooperate to enable RNA Polymerase I promoter recognition in rDNA, and this cooperation is disrupted in UBTF-E210K neuroregression syndrome.