Shira Yanovsky‐Dagan

This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.

This study demonstrates that allele-specific antisense oligonucleotides can rescue ATAD3A-associated developmental defects in zebrafish by reducing mutant transcripts.

This study uses zebrafish atad3 knockout models to identify mitochondrial dysfunction as a key mechanism in ATAD3A-related human diseases.

The paper identifies a rare TLN1 splice-site variant in a familial SCLS case, linking Talin1 dysfunction to systemic capillary leak syndrome through disrupted endothelial barrier integrity.

This study shows that deleting the CTG expansion in DM1 hESCs reverses DMPK methylation and restores SIX5 transcription, but has no effect on affected myoblasts.