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Author

Nicolas Chassaing

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Oct 2026

Genetic and functional analysis of CDH2 reveals new insights into CDH2-related disorders.

PURPOSE Pathogenic variants in CDH2 cause agenesis of the corpus callosum, cardiac, ocular, and genital syndrome (ACOGS). We aimed to define the clinical and molecular landscape of CDH2-related developmental disorders. METHODS Newly identified and previously reported families were analyzed for genotype-phenotype corr...

Linda M. Reis, Smith Ann M. Chisholm, Kailey Frank et al. · 0 citations
Open access Jul 2026

Unveiling ocular developmental disorders through short-read whole-genome sequencing.

It is demonstrated that short-read WGS significantly improves diagnostic yield in patients with congenital eye malformations, including those previously undiagnosed despite NGS panel testing.

Bertrand Chesneau, Timotéo Cousteix, Abdelhakim Bouazzaoui et al. · 1 citation · ⚡1

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