معرفی
Alice Brooks is a Researcher in Clinical Genetics at Erasmus MC, Erasmus University Rotterdam. Her work focuses on genetic and epigenetic mechanisms underlying neurodevelopmental disorders using exome sequencing and molecular profiling techniques.
Research investigates missense variants, haploinsufficiency, and epigenetic dysregulation in syndromes including Silver-Russell syndrome, Hirschsprung disease, and intellectual developmental disorders. Studies employ zebrafish models, methylation analysis, and clinical genomics to characterize novel disorders.
Recent publications (2024) identify genetic mechanisms in neurodevelopmental conditions through ubiquitin ligase pathways, HMGA2 variants, mitochondrial regulation in neural development, CTCF-related epigenetics, and spliceosome malfunction. Work contributes to diagnostic biomarker development and phenotype-genotype correlations.
No awards, students, or lab information is detailed in available sources.
Alice Brooks در سایتهای دیگر
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