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- 2016
- A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever
- Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues
- Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
- 2015
- Whole exome sequencing as a novel tool for the detection of modifier genes in pseudoxanthoma elasticum
- Selection of lncRNAs involved in neuronal development and intellectual disability
- Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Possible technical and biological explanations for the 'parental telomere length inheritance discrepancy' enigma
- Redefining the MED13L syndrome
- 2014
- Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
- A non-genetic, epigenetic-like mechanism of telomere length inheritance?