Publications
Academic publications, preprints and related work.
Publication
MobiDeep: an AI-based meta-score for scoring non-coding DNA variations
Preprint on an AI meta-score for prioritizing non-coding variants.
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
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients
Contribution to a French multicenter cohort of patients referred for genetic diagnosis of epilepsy.
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.
Publication
Assisted reproductive technology, congenital malformations and postnatal health
Review article on assisted reproductive technology, congenital malformations and postnatal health.