Research group Clinical genetics of intellectual disability

Aims

• Identification of novel genes

  We aim to identificate novel genes involved in neurodevelopmental disorders, especially intellectual disability and autism spectrum disorder.

• Characterization of newly identified genes

  We aim to characterize both clinical and molecular newly identified genes related to neurodevelopmental disorders.

• Artificial intelligence

  We aim to develop and introduce novel facial imaging techniques (2D and 3D) for phenotyping patients using artificial intelligence (AI).

• Databases and gene-websites

  We aim to develop world-wide assessable clinical databases and gene-websites as a tool to collect and share clinical information of patients with neurodevelopmental disorders.

• Neuronal networks and organoids

  We aim to characterize neuronal networks and organoids for neurodevelopmental disorders, especially Koolen-de Vries syndrome, as a starting point for treatment.

Publications

See the publication list of the research group leader on Web of Science.