1.

Next generation sequencing as a follow-up test in an expanded newborn screening programme

Study of pilot project of expanded newborn screening programme in 10,000 newborns. The study was a basis for successful implementation of expanded newborn screening program.

COBISS.SI-ID: 4473260

2.

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

Study in the context of pilot project of expanded newborn screening

COBISS.SI-ID: 4610476

3.

Rare disease registry

Review article of rare disease registries and appropriate informational platforms

COBISS.SI-ID: 4156901

4.

Special topic interoperability and EHR

Review of IT for development of rare diseases registry

COBISS.SI-ID: 5089454