1.

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease

We have demostrated that we can improve diagnostic yield by 5% using extended approaches to exome analysis.

COBISS.SI-ID: 4601516

2.

Transcriptome profiling uncovers potential common mechanisms in fetal trisomies 18 and 21

Transcriptome profiling uncovered potential common homeostatic mechanisms involved in fetal trisomies 18 and 21

COBISS.SI-ID: 4722348

3.

Mutations in SCN3A cause early infantile epileptic encephalopathy

We identified new gene for early infantile epileptic encephalopathy

COBISS.SI-ID: 4688812