Olaf A. Bodamer

Technical Note: Focused ultrasound-mediated blood-brain barrier opening for delivery of LNP-packaged modRNA therapy in a mouse model of Niemann-Pick Disease Type C

This study evaluates FUS-BBBO for delivering LNP-packaged modRNA to the cerebellum in NPC mice, finding BBB opening but no detectable protein expression or therapeutic benefit.

Metabolomic and transcriptomic signature in Kabuki syndrome

This study identifies metabolomic and transcriptomic signatures in Kabuki syndrome patients, revealing altered metabolites and pathways that could serve as biomarkers for early detection.

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki Syndrome

This study examines how KMT2D mutations affect histone modifications and gene expression in PBMCs from KS patients, identifying altered enhancer activity and transcriptional changes linked to immune and metabolic gene dysregulation.

Molecular map of GNAO1-related disease phenotypes and reactions to therapy

This paper models GNAO1 mutations' effects on GPCR signaling to explain disease phenotypes and therapy responses in neurological disorders.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.