Publication
Unveiling ocular developmental disorders through short-read whole-genome sequencing
Contribution to a national cohort study on the diagnostic yield of short-read whole-genome sequencing in ocular developmental disorders.
Contribution to the AURAGEN cohort study showing that short-read whole-genome sequencing improves the diagnostic yield in 100 families with ocular developmental disorders, including cases left undiagnosed after gene panel testing or array-CGH.
Links
- DOI: 10.1038/s41431-026-02160-4
- PubMed: PMID 42448966
- Europe PMC: notice
- HAL: hal-05755803