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Summary We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novo… (More)
We present the largest exome sequencing study to date focused on rare variation in autism spectrum disorder (ASD) (n=35,584). Integrating de novo and case-control variation with an enhanced Bayesian… (More)
BackgroundSurveying deleterious variation in human populations is crucial for our understanding, diagnosis and potential treatment of human genetic pathologies. A number of recent genome-wide… (More)
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the Fragile X mental retardation 1 (FMR1) gene. FXS is a leading monogenic cause of autism spectrum disorder and a… (More)
Healthy cortical development depends on precise regulation of transcription and translation. However, the relationships between levels of mRNAs and their respective translated proteins have not yet… (More)
RNA editing is vital for neurodevelopment and the maintenance of normal neuronal function. We surveyed the global landscape and genetic regulation of RNA editing across several hundred schizophrenia… (More)