Julie Douville

The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

The paper analyzes genotypic and phenotypic data from 173 patients with nano-rare mutations to explore genotype-phenotype relationships and the potential for antisense oligonucleotide therapy.

This paper describes the development of an antisense oligonucleotide (ASO) therapy targeting the UBE3A-AS transcript to reactivate paternal UBE3A expression in Angelman syndrome models.