I. Boujelbene

OverviewAI-generated summary

I. Boujelbene is a faculty member at Lyon College whose research encompasses the genetic underpinnings of neurodevelopmental disorders, with a particular emphasis on Down syndrome and intellectual disability. Boujelbene investigates genomic variations and chromosomal abnormalities related to these conditions, as well as the genetic and clinical aspects of sex determination. Publications include studies employing integrative approaches to interpret *DYRK1A* variants, a frequent cause of neurodevelopmental disorders, and characterizing *SRD5A3‐CDG* through 3D structure modeling and computer-based facial recognition. More recently, Boujelbene contributed to the "Genome Tunisia Project," an initiative aimed at advancing precision medicine in North Africa and a study of neonatal-onset developmental epileptic encephalopathy due to 2q24.3 microduplication.

Boujelbene's research is focused on adrenal hormones and disorders and the interplay between genetics and neurodevelopmental conditions.

Metrics

• h-index: 4
• Publications: 17
• Citations: 65