About
Floris Hofstede is an Assistant Professor at Utrecht University Medical Center (UMC Utrecht), specializing in medical genetics and neurodevelopmental disorders. His research focuses on characterizing genetic and metabolic conditions affecting neurological development in children.
Research Interests:
Dr. Hofstede investigates rare genetic disorders including molybdenum cofactor deficiency, tyrosinemia, phenylketonuria, and BAF-related syndromes. His work spans:
- Genetic basis of neurodevelopmental disorders
- Metabolic dysfunction in neurological damage
- Phenotype-genotype correlations
- Pediatric neurological manifestations
Publication Trends:
Recent work (2021-2024) demonstrates focus on:
- Timing mechanisms in cerebral damage progression
- Expansion of clinical phenotypes in genetic disorders
- Multi-omics approaches to rare diseases
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