Robert M.W. Hofstra

This study investigates how loss of the enteric nervous system in zebrafish affects intestinal cell composition and identifies similar changes in human HSCR tissues.

This study identifies two enteric glia classes in health and disease, showing Schwann-like glia persist in HSCR and can be targeted to stimulate neurogenesis in a zebrafish model.

The paper performs single-cell RNA sequencing on larval zebrafish ENS to identify previously uncharacterized neuronal and glial populations and reveals a binary neurogenic branching mechanism.

This study investigates the role of TALPID3/KIAA0586 in gastrointestinal development across species, showing its impact on tissue patterning and neural crest cell behavior.

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

The paper develops a normalization method for untargeted metabolomics data to reduce batch effects and improve detection of metabolic biomarkers using out-of-batch controls.

The paper investigates genetic and environmental factors contributing to the co-occurrence of esophageal atresia and infantile hypertrophic pyloric stenosis, finding a significant association with a risk SNP but no clear single genetic cause.