My research focus is on the discovery and characterization of genetic etiological factors involved in neurodevelopmental disorders (NDDs). Most of my work has applied genetic and functional approaches to understand autism with a focus on de novo and rare inherited variants, the potential underpinnings of the sex bias, birth order effects, and clustering of disease mutations in the primary protein structure. While there has been considerable progress in our understanding of the genetics of NDDs through the use of exome and array technologies there still remains an appreciable gap in understanding of their genetic architecture. Therefore, one major area of recent focus is variation in the noncoding genome. Main areas of work in the lab include assessment of whole-exome sequencing and whole-genome sequencing data in families with neurodevelopmental disorders, variant prioritization using functional genomic data, massively parallel reporter assays, and other functional experiments assessing consequences of variation.

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Recently, we defined Precision Genomics as “determining all possible relevant genomic variation within an individual to the precise nucleotide.” My lab focuses on scientific aspects necessary for the future of Precision Genomics. Two of these include interpretation of noncoding variation and variants missed due to genomic technology.