dr. L.B.A. de Vries (Bert)

Hoofdonderzoeker - Donders Center of Medical Neurosciences
Hoofdonderzoeker - Donders Institute for Brain, Cognition and Behaviour

dr. L.B.A. de Vries (Bert)

Dr Bert B.A. de Vries is clinical geneticist whose central research theme for more than 20 years has been the clinical and molecular study of intellectual disability. He and his group have an extensive experience into linking the genotype to the phenotype et vice versa, leading to the identification of numerous novel genetic defects and clinical syndromes.
Within his group, new deletion/duplication syndromes were identified, and subsequent gene identifications in the defined genomic areas became a reality, as in the CHARGE syndrome with the CHD7 gene, the 9q34 deletion syndrome with the EHMT1 gene and the 17q21.31 microdeletion syndrome with the KANSL1.
Subsequently, he was involved in the introduction of whole exome/genome sequencing which led to identification of the causative genes for Schinzel-Giedion syndrome, Bohring-Opitz syndrome, Cantu syndrome and de novo mutations in various genes for intellectual disability. In recent years the clinical interpretation of novel genetic mutations (genotype first approach) has led to extensive studies (clinical, functional and as animal models) leading to novel insights for various genes not only linked to ID but to autism as well, e.g. TDP2, DEAF1, NR2F1 and, respectively, ADNP and CHD8.
Since 2011, he is PI at the Radboud UMC which allows him to perform his research next to his clinical work.

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