Spatio-temporal roles of asd-associated variants in human brain development

Yujin Kim, Joon Yong An

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Transcriptional regulation of the genome arguably provides the basis for the anatomical elaboration and dynamic operation of the human brain. It logically follows that genetic variations affecting gene transcription contribute to mental health disorders, including autism spectrum disorder (ASD). A number of recent studies have shown the role of de novo variants (DNVs) in disrupting early neurodevelopment. However, there is limited knowledge concerning the role of inherited variants during the early brain development of ASD. In this study, we investigate the role of rare inherited variations in neurodevelopment. We conducted co-expression network analyses using an anatomically comprehensive atlas of the developing human brain and examined whether rare coding and regulatory variants, identified from our genetic screening of Australian families with ASD, work in different spatio-temporal functions.

Original languageEnglish
Article number535
Issue number5
Publication statusPublished - 2020 May

Bibliographical note

Funding Information:
Funding: This work was supported by the Korea University Grant K1907561, the Korean NRF Grant 2017M3C7A1026959, and the Korean NRF Grant 2020M3C7A1017855.

Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.


  • Autism spectrum disorder (ASD)
  • Autism spectrum disorders
  • Gene pathway
  • Multi-omics analysis
  • Neurodevelopment
  • Systems biology
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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