Anna Wedell

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

This study shows that mitoSAM-dependent lipoylation is essential for postnatal heart development by enabling metabolic remodeling from glycolysis to oxidative phosphorylation.

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 shows that mitochondrial SAM is essential for processing mitochondrial ribosomal RNA precursors and ribosome assembly.

This study identifies a GGC expansion in the ZFHX3 gene as the cause of SCA4, associated with dysautonomia and motor neuron signs.

This paper introduces SILAF, a method for stable-isotope labeling in Drosophila to enable proteomic and phosphorylation site analysis, revealing metabolic regulation and protein turnover.