Thème
Talk
Contribution of Whole-Genome Sequencing to Ocular Malformations: Review of One Hundred AURAGEN Cases
Contribution to an oral presentation at the 13th French Meeting of Human and Medical Genetics on whole-genome sequencing in ocular developmental anomalies.
Publication
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies
Contribution to an article on SMARCA4 and ocular developmental anomalies.