Thomas Koed Doktor

The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.

The paper demonstrates that splice-switching antisense oligonucleotides (SSOs) targeting the downstream splice acceptor site of a microexon can modulate microexon inclusion and restore protein levels of ASD risk genes.

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

The paper introduces VulExMap, a tool to identify vulnerable exons prone to splicing mutations, finding that only 27% of exons are vulnerable despite two-thirds of known disease-related mutations occurring in vulnerable exons.

This study shows that modulating pseudoexon splicing in the PCCA gene with antisense oligonucleotides restores enzyme activity in propionic acidemia by rescuing PCCA and PCCB protein levels.

DeepCLIP predicts the functional effects of nucleotide variants on protein-RNA binding using sequence data and outperforms existing methods in classification and experimental validation.