Abstract To date, the unifying pathogenesis, or etiology, of autism spectrum disorders ( ASDs ) and Williams syndrome ( WS ) remains unknown, partly because of the broad variation of phenotypes and th

The gap

Consensus across the literature

Supporting evidence — 3 representative gaps

• Genes/variants for diagnostic testing and pre-clinical research in autism spectrum disorder (2026) · doi

  ResultsWe curated 222 genes and found 78 genes with definitive EAGLE-evidence for association with autism: 43 with moderate evidence, and 99 with limited evidence for a role in ASD (noting all 222 genes are associated with the broader category of neurodevelopmental disorders (NDDs)).

  Keywords: genes evidence resultswe curated found definitive eagle association autism moderate limited role noting associated broader
• Toward a unified framework for understanding the various symptoms and etiology of autism and<scp>W</scp>illiams syndrome (2013) · doi

  Abstract To date, the unifying pathogenesis, or etiology, of autism spectrum disorders ( ASDs ) and Williams syndrome ( WS ) remains unknown, partly because of the broad variation of phenotypes and the heterogeneity of syndrome expression.

  Keywords: syndrome abstract date unifying pathogenesis etiology autism spectrum disorders asds williams remains unknown partly broad
• Annual Research Review: Understudied populations within the autism spectrum – current trends and future directions in neuroimaging research (2017) · doi

  Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging.

  Keywords: autism expressions characterized severe phenotype including intellectual disability history developmental regression minimally verbal understudied generally