Erwin Brosens

Novel biomarkers in mutation-specific gene profiles highlight the involvement of COL9A3 in cancer cell plasticity in uveal melanoma

The paper identifies COL9A3 as a novel high-risk biomarker in uveal melanoma associated with cell plasticity and is most prevalent in BAP1mut tumors.

Transcriptional regulators FOXD1 and RBFOX2 contribute to metastatic capacity in BAP1mut uveal melanoma

This study investigates the role of transcription factors FOXD1 and RBFOX2 in BAP1mut uveal melanoma progression using knock-out and overexpression models, finding they influence tumor growth and dissemination.

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.

Models for infantile hypertrophic pyloric stenosis development in patients with esophageal atresia

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.