what variant and genes contribute to neurodevelopmental traits?

We seek to leverage high-throughput sequencing data to identify potential variants associated with neurodevelopmental disorders and traits. As the cost of sequencing goes down, our ability to sequence more genomes rises at an exponential rate resulting in thousands of variants of unknown significance. Left with the burden of understanding which variants truly cause disease, we use zebrafish as a tool to assess their impact on gene function, neurodevelopment, and behavior, with the goal to generate high-ish throughput test of function for many variants in parallel.

Projects in the lab are funded in part by NIH National Institute of Neurological Disorder and Stroke.

Selected related papers

• A Subphenotype-to-Genotype Approach Reveals Disproportionate Megalencephaly Autism Risk Genes. Preprint (2022)

• Evaluation of CRISPR gene-editing tools in zebrafish. BMC Genomics (2022)

• Assessment of autism zebrafish mutant models using a high-throughput larval phenotyping platform. Front Cell Dev Biol: Zebrafish Models for Human Disease Studies (2020)

• Refinement and discovery of new hotspots of copy number variation associated with autism spectrum disorder. AJHG (2013)