Irene Duba

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

The paper directly measures sub-kilobase chromatin structure using RICC-seq 2.0 and finds that linker histone H1 broadly compacts chromatin, with differential effects on gene expression and epigenetic states.

This study compares the SASP and transcriptional profiles induced by CDK4/6 inhibitors and DNA damage, revealing delayed NF-κB activation in CDK4/6i.