Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

doi:10.1111/pcn.13676

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Article

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Psychiatry and clinical neurosciences - 1 Jul 2024

Kim Jae Hyun, Koh In Gyeong, Lee Hyeji, Lee Gang-Hee, Song Da-Yea, Kim Soo-Whee, Kim Yujin, Han Jae Hyun, Bong Guiyoung, Lee Jeewon, Byun Heejung, Son Ji Hyun, Kim Ye Rim, Lee Yoojeong, Kim Justine Jaewon, Park Jung Woo, Kim Il Bin, Choi Jung Kyoon, Jang Ja-Hyun, Trost Brett, Lee Junehawk, Kim Eunjoon, Yoo Hee Jeong, An Joon-Yong

Abstract excerpt

AIM: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci...

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Identifiers

PMID: 38751214
DOI: 10.1111/pcn.13676
PMCID: PMC11488627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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