Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.

Wenqiu ZhangLi HuXinyi HuangDan XieJiangfen WuXiaoling FuDaiyi LiangShengwen Huang

Published in: Journal of clinical laboratory analysis (2022)

Our findings contribute to expanding the mutational spectrum of ID-related genes and help to deepen the understanding of the genetic causes and heterogeneity of ID.

Keyphrases

intellectual disability
copy number
autism spectrum disorder
genome wide
single cell
dna methylation
gene expression