1.

Clinical exome sequencing as a novel tool for diagnosing Loeys-Dietz syndrome type 3

An original approach to exome sequencing demonstrated usefulness in diagnosis of rare vascular diseases.

COBISS.SI-ID: 2649516

2.

Towards a European consensus for reporting incidental findings during clinical NGS testing.

We contributed to the European consensus for reporting incidental findings during clinical NGS testing.

3.

Family history based approach in risk prediction for Parkinson's disease

We demonstrated that family history contributes to predisction of Parkinson disease

COBISS.SI-ID: 31973849