معرفی
Dr. van den Boogaard is an Assistant Professor in Medical Genetics at University Medical Center Utrecht, affiliated with the Child Health strategic program. Their research focuses on neurodevelopmental disorders, particularly autism spectrum disorder and rare genetic syndromes.
- Institution: Utrecht University
- Department: Department of Medical Genetics
Current work explores gene signaling pathways (e.g., WNT/β-catenin), epigenetic regulation, and proteasome dysfunction in developmental disorders. Collaborative studies involve genomic analysis of conditions like CUL3-related neurodevelopmental disorder and Chung-Jansen syndrome.
Recent publications highlight associations between genetic variants (KDM5B, PSMC3) and neurodevelopmental outcomes, as well as episignature detection in overlapping syndromes. Key co-authors include international collaborators in genetics and pediatrics.
Email: mboogaa2@umcutrecht.nl
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