Thème
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.
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.
Publication
Expanding the TUBB3-Related Phenotypic Landscape
Article on fetal diagnosis of a novel TUBB3 variant and intrafamilial phenotypic variability.
Publication
Short Stature Related to the SHOX Gene
Contribution to a retrospective multicenter study on CNVs and SHOX sequencing.
Talk
Intrafamilial Variability in Tubulinopathies
Recorded talk at the Western France Genetics Seminar on tubulinopathies.
Talk
Prenatal Diagnosis of a New TUBB3 Variant Linked With Anterior Distortion of the Interhemispheric Fissure and Intra-Familial Variability
Presentation at EuroDysmorpho, Barcelona, June 2022, on prenatal diagnosis of a new TUBB3 variant.