The Duke clinical site has led or contributed to the discovery of 13 new gene-disease associations and has ongoing research in many more.
Research into Psychosocial Implications of Undiagnosed Disease
A unique aspect of the Duke clinical site is our interest in the psychosocial aspects of living undiagnosed. This interest led us to develop a tool, the Genome Empowerment Scale, in order to optimize potential benefits for individuals and their families.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.