معرفی
Jasper van der Smagt is an Assistant Professor at the School of Medical Sciences (Utrecht University), specializing in Medical Genetics within the Circulatory Health strategic program. His research spans neurodevelopmental disorders, rare genetic syndromes, and epigenetic mechanisms in undiagnosed diseases.
- Recent work examines 16p11.2 triplications and FAM83G variants in palmoplantar keratoderma.
- Key contributions in ADNP splice mutations and BAZ2B loss-of-function phenotypic characterization.
He participates in collaborative studies on clinical DNA methylation episignatures and CUL3-related neurodevelopmental disorders, with publications in European Journal of Medical Genetics and British Journal of Dermatology (2024–2025). Contact: jsmagt@umcutrecht.nl
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