[FG] Filges Isabel

Clinical Genomics of congenital developmental disorders

My research focus is the identification and characterization of phenotypes, genotypes, novel genes and their pathways in fetal and childhood severe birth defects.

This includes

• Phenotype-genotype correlations and evolving phenotypes in fetal anomalies/malformation syndromes
• The implication of KIF4A in hydrocephalus and intellectual disability
• Phenotype-genotype correlations and the natural history of (prenatal) arthrogryposis
• Gene identification using novel genomic technologies
• Introduction of genomic technologies into clinical practice