Genetic heterogeneity in autism: from single gene to a pathway perspective

Yong-Joon Chwae, Charles Claudianos

Research output: Contribution to journalReview ArticleOtherpeer-review

41 Citations (Scopus)


The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD.

Original languageEnglish
Pages (from-to)442-453
Number of pages12
JournalNeuroscience and Biobehavioral Reviews
Publication statusPublished - 1 Sept 2016


  • Autism spectrum disorders (ASD)
  • Brain gene expression
  • Genome sequencing
  • Neurodevelopment
  • Systems biology

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