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- 2015
- Possible technical and biological explanations for the 'parental telomere length inheritance discrepancy' enigma
- 2014
- Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
- Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- A non-genetic, epigenetic-like mechanism of telomere length inheritance?
- Did lightning strike twice?
- Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
- Structural and numerical changes of chromosome X in patients with esophageal atresia
- 2013
- Clinical utility gene card for: osteogenesis imperfecta
- Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia
- The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes