Author
UConn Health
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Noélle D. Germain, Dea Gorka, Ryan Drennan…·Stormy J. Chamberlain
This study shows that antisense oligonucleotides targeting UBE3A-ATS restore UBE3A expression by removing transcriptional interference in Angelman syndrome neurons.
Maéva Langouët, Dea Gorka, Clarisse Orniacki…·Stormy J. Chamberlain
The paper shows that disrupting ZNF274 binding at SNORD116 activates its maternal allele in PWS neurons without altering ZNF274 levels, suggesting a therapeutic strategy for Prader-Willi syndrome.
Carissa L. Sirois, Judy E. Bloom, James J. Fink…·Stormy J. Chamberlain
The paper investigates the abundance and localization of human UBE3A protein isoforms and their impact on Angelman Syndrome phenotypes using CRISPR/Cas9-generated isogenic cells.
Jack S. Hsiao, Noélle D. Germain, Andrea Scarpa Wilderman…·Stormy J. Chamberlain
This study identifies a bipartite boundary element that restricts UBE3A antisense transcript expression to neurons, essential for UBE3A imprinting in Angelman syndrome.