Caleb S. Heffner

This study shows that ultraconserved poison exons regulate mitotic splicing fidelity and stem cell viability by controlling SR protein levels and splicing networks.

The paper develops new mouse reporter models to detect genome editing events in vivo, including gene repair and CRISPR indels, and A-base editor activity.

The paper validates two genes, Cnot1 and Cdc42bpb, as causes of congenital diaphragmatic hernia in mice using patient-specific variants and shows distinct hernia phenotypes.

The paper investigates the role of Zfp750 in periderm development and orofacial cleft risk by analyzing genetic variants and mouse models.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.