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- 2015
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- 2014
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
- In vitro human embryonic stem cell hematopoiesis mimics MYB independent yolk sac hematopoiesis
- ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation
- Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
- Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
- A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
- Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
- A de novo POU3F3 deletion in a boy with intellectual disability and dysmorphic features
- 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder