Area of research
Endocrinology, Diabetes and Metabolism · Public Health, Environmental and Occupational Health
Research interest
Research focused on GLUT4 and Microcephaly, with related work in Human genetics, Growth retardation, Genome Biology. Notable publications include 'Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort', 'An Actin Filament Population Defined by the Tropomyosin Tpm3.1 Regulates Glucose Uptake', and 'Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism'.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
An Actin Filament Population Defined by the Tropomyosin Tpm3.1 Regulates Glucose Uptake