M. Vinkšel

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

G. Mortier, B. Peterlin, T. Haack, 2022, Journal of Medical Genetics.

A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p

B. Peterlin, M. Volk, L. Lovrečić, 2019, Balkan journal of medical genetics : BJMG.

Improving diagnostics of rare genetic diseases with NGS approaches

B. Peterlin, A. Maver, K. Writzl, 2021, Journal of community genetics.