Area of research
Genetics · Reproductive Medicine
Research interest
Research focused on Genetics and Genetic predisposition, with related work in Hypotonia, Exome sequencing, Mosaic. Notable publications include 'Genetic predisposition to mosaic Y chromosome loss in blood', 'Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2', and 'Immune cells lacking Y chromosome show dysregulation of autosomal gene expression'.
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
Genetic predisposition to mosaic Y chromosome loss in blood
Mutations in <i>HECW2</i> are associated with intellectual disability and epilepsy
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2