Dragana J. Josifova

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

This study functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.