Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Brett William Stringer, Yougang Zhang, Afsaneh Taghipour‐Sheshdeh, Shuxiang Goh, Heike Kölbel, Michelle Anne Farrar, Brunhilde Wirth, Jean Giacomotto
The paper uses a zebrafish model to test the pathogenicity of SMN1 variants in SMA patients, showing that two variants were non-pathogenic and avoiding costly treatments.
EMBO Molecular Medicine · Dec 15, 2025Peer-reviewedNeuroscience