Kris Van Den Bogaert

The paper demonstrates that integrating CNV detection into exome sequencing analysis improves diagnostic yield for developmental disorders in the DDD-Africa cohort by 8.3% without additional costs.

This paper uses 3D facial morphometry to analyze facial shape changes in Cri-du-Chat syndrome and related genetic conditions, identifying genotype-phenotype correlations and critical genomic regions.

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

This study demonstrates that nanopore sequencing can detect episignatures in developmental disorders, matching microarray results and identifying pathogenic variants.

The paper develops a method to detect and type cancer using cfDNA sequencing data, achieving 81.62% accuracy in distinguishing malignant from control samples.