Yolande van Bever

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.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

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.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

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.