Neuroimaging genomic studies of autism spectrum disorder and schizophrenia have mainly
adopted a 'top-down'approach, beginning with the behavioural diagnosis, and moving down …

Importance Although the increased risk of obesity among individuals with autism has been
well established, evidence on the association between autism, cardiometabolic disorders …

Despite the high clinical burden, little is known about pathophysiology underlying autism
spectrum disorder (ASD). Recent resting-state functional magnetic resonance imaging (rs …

Chromosome 16p11. 2 deletions and duplications are among the most frequent genetic
etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but …

Importance; Copy number variants (CNVs) classified as pathogenic are identified in 10% to
15% of patients referred for neurodevelopmental disorders. However, their effect sizes on …

We report the first case of a child with 16p11. 2 microduplication syndrome with increased
fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may …

Copy number variation (CNV) at the 16p11. 2 locus is associated with neuropsychiatric
disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can …

Background Congenital vertebral malformations (CVMs) manifest with abnormal vertebral
morphology. Genetic factors have been implicated in CVM pathogenesis, but the underlying …

Purpose: Chromosome 16p11. 2 deletion syndrome (OMIM# 611913) is a rare genetic
condition resulting from the partial deletion of approximately 35 genes located at …

在基因组中, 编码区存在许多高度相似的基因簇或基因群(多拷贝基因), 非编码区也存在大量的
重复序列. 这些重复序列能通过改变染色体的三维结构调控基因的转录, 对于生物体的遗传与 …