Robert E. Hill

This study shows that DGCR8 haploinsufficiency in human pluripotent cells causes RNA dysregulation and pluripotency defects, with rescue by primate-specific miRNAs.

The paper shows that some Shh enhancers can activate transcription of both Shh and Mnx1 genes across a TAD boundary, supporting a cohesin-dependent hub model for enhancer function.

This study shows cohesin, but not CTCF, is required for activation of genes by distant enhancers, while close enhancers can function without cohesin.

This study shows UBR5 interacts with the HH pathway to regulate skeletal homeostasis and identifies potential targets for biomedical applications.

This study shows that the conserved Shh enhancer SBE2 is critical for maintaining sufficient Shh expression in the rostral diencephalon, which is necessary for proper hypothalamic and craniofacial development.

The paper shows that Shh expression remains robust to TAD perturbations during development, except when enhancers are deleted.