Ultimately, our group is interested in the translation of research findings to meaningful changes in clinical care and improved outcomes for individuals with autism spectrum disorder (ASD), intellectual disability (ID), and other neurodevelopmental disorders (NDD). Elucidation of the pathophysiologic processes involved in the various etiologic subtypes of ASD and other NDD (as well as sub-phenotypes that cross traditional diagnostic classification boundaries) will be necessary to allow medical treatment to progress from modification of broad behavioral symptoms to neuroprotective or restorative interventions.
We hope to identify genetic factors that underlie variation in brain structure and function, influence disease state and/or important quantitative sub-phenotypes, and moderate response to specific therapeutic interventions through both “genotype first” approach (including detailed phenotyping of individuals with specific genetic etiologies associated with ASD and other NDD), and a “phenotype first” approach (exploring the genetic underpinnings of behavioral, cognitive, and physical sub-phenotypes and biomarkers within and across categorical diagnoses).
- Evans DW, Lusk LG, Slane MM, Michael AM, Myers SM, Uljarević M, Mason O, Claridge G, Frazier T. Dimensional assessment of schizotypal, psychotic, and other psychiatric traits in children and their parents: development and validation of the Childhood Oxford-Liverpool Inventory of Feelings and Experiences on a representative US sample. Journal of Child Psychology and Psychiatry 2017 Oct 30. doi: 10.1111/jcpp.12827. [Epub ahead of print]
- Finucane B, Myers SM. Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape. Current Genetic Medicine Reports 2016. doi:10.1007/s40142-016-0099-9
- Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry 2015;72:119-126.
- Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH. (2013, April). Developmental brain dysfunction (DBD): Revival and expansion of old concepts based on new genetic evidence. Lancet Neurology , 12(4):406-14. Full Text
- Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, Gene STAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EWC, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. (2010, Nov). Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. The American Journal of Human Genetics , 87(5),618-630. Full Text