Aleš Maver

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

This study identifies structural variants in male infertility using optical genome mapping, finding rare variants in 25% of patients that may contribute to infertility.

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.