Christopher E. Stoddard

The paper identifies and functionally characterizes TAD-boundary-disrupting ultra-rare structural variants in schizophrenia using CRISPR/Cas9 in iPSCs, showing cell-type-specific effects on 3D-genome organization and gene expression.

The paper identifies a gene regulatory network controlled by SNORD116 snoRNAs and predicts their targets in Prader-Willi syndrome using isogenic cell lines and computational analysis.

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 uses a dynamic in vitro model to correct Trisomy 21 gene dosage in DS neurogenesis and shows XIST can suppress chr21 genes even after terminal differentiation.

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.

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.

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 the role of SFTA3 in MGE interneuron specification using CRISPR-generated knockout lines and shows reduced differentiation capacity in SFTA3 KOs compared to NKX2.1 KOs.