The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.
Human pedigree and population genetics, and mouse modeling of neurodegenerative disease – designed to inform therapeutic development.
Clinical applications of genomic technology; birth defects epidemiology and clinical teratology; clinical studies of neurofibromatosis.
Discovery of monogenic causes of human developmental or metabolic disorders; natural history of monogenic disorders; optimal management of mitochondrial disorders.
Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.
1) Scope and impact of germline findings identified in next generation sequencing and the use of these technologies in oncology; 2) molecular diagnosis and characterization of hereditary cancer syndromes