Stormy J. Chamberlain

This study benchmarks long-read RNA-seq across bulk and single-cell platforms, technologies, and sequencing depths, identifying optimal methods for transcript discovery and quantification.

This study uses single-cell analysis of dup15q syndrome to identify developmental and postnatal molecular changes in autism, revealing cell-type specific dysregulation and shared vulnerabilities with idiopathic ASD.

The paper develops isogenic human embryonic stem cell lines modeling Angelman and Prader-Willi syndromes to study allele-specific gene regulation and therapeutic approaches.

This study shows that restoring UBE3A expression in a mouse model of Angelman Syndrome improves behavior and proteome, supporting UBE3A reinstatement as a therapeutic strategy.

This study investigates the role of UBE3A in Dup15q syndrome using CRISPR-corrected patient-derived neurons, showing UBE3A overexpression is necessary for most neuronal deficits but not synaptic phenotypes.

This study shows that antisense oligonucleotides targeting UBE3A-ATS restore UBE3A expression by removing transcriptional interference in Angelman syndrome neurons.

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.

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.

This study identifies a bipartite boundary element that restricts UBE3A antisense transcript expression to neurons, essential for UBE3A imprinting in Angelman syndrome.

This study investigates hyperexcitability in iPSC-derived neurons from Dup15q patients, identifying mechanisms like delayed action potential maturation and KCNQ2 channel disruption.