Author
Boris Chaumette
Recent research
- Health & MedicineOpen access
The integration of genomic medicine into healthcare systems represents a major translational challenge. In France, the Plan France Médecine Génomique 2025 (PFMG2025) was designed to directly embed whole-genome sequencing (WGS) into routine clinical care through a nationwide infra...
- BiologyOpen access
Extending the ATP9A ‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this ge...
- BiologyOpen access
22q11.2 deletion syndrome (22q11DS) markedly increases risk of psychiatric disorders, including anxiety and mood disorders, and is associated with a spectrum of cognitive impairment, from borderline functioning to intellectual disability, with cognitive decline frequently reporte...