Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.

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Title: Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Authors: Stringer BW; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia., Zhang Y; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia., Taghipour-Sheshdeh A; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia., Goh S; Discipline of Paediatrics and Child Health, School of Clinical Medicine and Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2033, Australia., Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany., Farrar MA; Discipline of Paediatrics and Child Health, School of Clinical Medicine and Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2033, Australia.; Department of Neurology, Sydney Children's Hospital, Randwick, NSW, 2031, Australia., Wirth B; Institute of Human Genetics, University Hospital of Cologne, Cologne, 50937, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, 50931, Germany.; Center for Rare Diseases, University Hospital of Cologne, Cologne, 50937, Germany., Giacomotto J; Institute for Biomedicine and Glycomics, Griffith University, Brisbane, QLD, 4111, Australia. j.giacomotto@griffith.edu.au.; School of Environment and Science, Griffith University, Brisbane, QLD, 4111, Australia. j.giacomotto@griffith.edu.au.; Thompson Institute, National PTSD Research Centre, University of the Sunshine Coast, Birtinya, QLD, 4575, Australia. j.giacomotto@griffith.edu.au.; Queensland Brain Institute, The University of Queensland, Brisbane, QLD, 4067, Australia. j.giacomotto@griffith.edu.au.
Source: EMBO molecular medicine [EMBO Mol Med] 2026 Jan; Vol. 18 (1), pp. 41-54. Date of Electronic Publication: 2025 Dec 15.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1757-4684
DOI:10.1038/s44321-025-00355-8