Rachel E. Jennings

Spartan identifies spatial domains and variable genes by integrating spatial topology and activation signals in spatial transcriptomics data.

The paper investigates YAP1 variants' role in ocular coloboma using in vitro and organoid studies, showing how missense variants affect YAP1-TEAD binding and transcriptional activity.

The paper identifies a metaplastic precursor state in Barrett's oesophagus as a reversion to a fetal epithelial cell state, revealing HNF4A's role and GWAS SNPs in regulatory regions.

The paper identifies homozygous loss of function variants in ZNF808 as a cause of pancreatic agenesis in humans, showing its role in repressing transposable elements during pancreatic development.

The paper shows that cell proliferation in human embryonic stem cell-derived endodermal progenitors primes enhancer landscapes for organ-specific differentiation by modulating chromatin accessibility and enhancer decommissioning.

The paper maps histone modifications across thirteen human tissues during organogenesis to understand gene regulation and link noncoding mutations to developmental disorders.