Author

M. Kvarnung

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Review Open access Sep 2026

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Pathogenic variants in the noncoding gene RNU4-2 cause ReNU syndrome, a common neurodevelopmental disorder. Although the core phenotype is well described, longitudinal symptom progression and family perspectives remain insufficiently characterized. We identified 11 individuals with RNU4-2 pathogenic variants through re...

Nadja Pekkola Pacheco, M. Kvarnung, A. Hammarsjö et al. · Clinical Genetics · 0 citations

Open access Jul 2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

In FTD and ALS, these results support universal access to genetic testing independent of age at onset or family history, and provide a clear diagnostic advantage in NDDs marked by substantial clinical and genetic overlap.

Emma Ehn, H. Thonberg, Inger Nennesmo et al. · Human Molecular Genetics · 0 citations