H. Jaklič

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy

B. Peterlin, A. Kovanda, L. Leonardis, 2023, medRxiv.

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, A. Hodzic, K. Writzl, 2023, PloS one.

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

F. Fogolari, B. Peterlin, D. Neubauer, 2022, Neurology: Genetics.