James L. Shepherdson

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

The paper performs a deep mutational scan of CRX variants to classify clinical variants and reveals biochemical properties of the transcriptional effector domain.

Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

The paper examines how different pathogenic variants in the CRX gene affect cis-regulatory elements in photoreceptors, showing overlapping enhancer effects and distinct silencer impacts.

Synthetic and genomic regulatory elements reveal aspects of cis-regulatory grammar in Mouse Embryonic Stem Cells

The paper uses MPRA libraries to analyze cis-regulatory grammar in mouse ESCs, finding that synthetic and genomic elements share binding site quality as a key factor, but genomic activity is better explained by binding site affinity and spacing.