Maruša Škrjanec Pušenjak

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2

B. Koritnik, B. Peterlin, A. Maver, 2022, Neurology: Genetics.

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

R. Pfundt, H. Ropers, P. Jayakar, 2021, HGG advances.

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

A. Maver, O. Miljanović, Helena Jaklič, 2023, PloS one.