Thème
Article
The Alphabet, the Readout, the Lock, and the Movie: How AI Is Probing the Genome
From Sanger to AlphaGenome, a guided walk through the layers of life: sequence, expression, chromatin, imaging, and artificial intelligence.
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.
Talk
Description of a French Cohort of BPAN Male Patients (X-Linked NBIA) and Review of the Literature
Presentation at EuroDysmorpho, Ljubljana, September 2024, on a French cohort of male BPAN patients.
Publication
Assisted reproductive technology, congenital malformations and postnatal health
Review article on assisted reproductive technology, congenital malformations and postnatal health.
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.