Coloboma on Hakim Bouazzaouihttps://hakim.bouazzaoui.fr/tags/coloboma/Recent content in Coloboma on Hakim BouazzaouiHugoen-USCopyright Hakim Bouazzaoui. Tous droits réservés sauf mention contraire.Tue, 14 Jul 2026 00:00:00 +0000Unveiling ocular developmental disorders through short-read whole-genome sequencinghttps://hakim.bouazzaoui.fr/publications/wgs-ocular-developmental-disorders/Tue, 14 Jul 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/wgs-ocular-developmental-disorders/<p>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.</p>