Ann Nordgren

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

The paper creates a spatial transcriptomic atlas of pediatric brain tumors, identifying spatial archetypes and relapse-associated clones across multiple diagnoses.

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 investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

The paper analyzes copy number variations in 100 twin pairs enriched for neurodevelopmental disorders, finding no postzygotic de novo CNVs but higher rates of CNVs overlapping nervous system genes in discordant pairs.