Bianca M. de Graaf

Impact of Enteric Neuronal Loss on Intestinal Cell Composition

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

Synthetic epigenomes for open cross-platform episignature classifiers

The paper develops MethaDory, a framework to train and validate DNAm-based classifiers for rare diseases using synthetic data, achieving high accuracy across multiple platforms.

Size matters: large copy number losses reveal novel Hirschsprung disease genes

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.