معرفی
Richard van Jaarsveld is an Assistant Professor affiliated with Utrecht University, specializing in medical genetics and neurodevelopmental disorders. His research focuses on molecular mechanisms underlying rare genetic syndromes and neurologic conditions.
Recent publications highlight his work on WNT/β-catenin signaling in autism, deep intronic variants in ATRX syndrome, and phenotypic expansions of CACNA1C-associated disorders. Collaborative work spans nephrology, neurogenetics, and rare disease diagnostics.
His research intersects fields including:
- Medical Genetics
- Neuroscience
- Genomics
- Pediatrics
Current affiliations include UMC Utrecht's research programs in Brain Developmental Disorders, Congenital Disorders, and High-Precision Surgery.
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