Miles D. Thompson

Genetic and genomic laboratory diagnosis & novel treatments for human genetic disorders; glycophosphatidylinositol (GPI) biosynthesis deficiencies (GPIBDs); Interviewed GPIBD families & patients (PIGV, PIGO, PGAP2 & PGAP3) in hyperphosphatasia with neurologic deficit, HPMRS (Mabry syndrome, (MIM#239300)); facilitated identification of PIGS variants in Fetal Akinesia and Epileptic Encephalopathy (MIM#610271); cannabidiol as anticonvulsant; GPCRs; neural tube defects.