Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Aneuploidy, a genomic alternation characterized by deviations in the copy number of
chromosomes, affects organisms from early development through to aging. Although it is a …

Down syndrome (DS) originates, in most of the cases (95%), from a full trisomy of
chromosome 21. The remaining cases are due to either mosaicism for chromosome 21 or …

Down syndrome is associated with genome-wide perturbation of gene expression, which
may be mediated by epigenetic changes. We perform an epigenome-wide association study …

ABSTRACT Using Illumina 450K arrays, 1.85% of all analyzed CpG sites were significantly
hypermethylated and 0.31% hypomethylated in fetal Down syndrome (DS) cortex throughout …

Summary Down syndrome (DS, trisomy 21) is associated with developmental abnormalities
and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes …

Aneuploidy is frequently detected in early human embryos as a major cause of early
pregnancy failure. However, how aneuploidy affects cellular function remains elusive. Here …

Down syndrome (DS), caused by the triplication of human chromosome 21, leads to
significant alterations in brain development and is a major genetic cause of intellectual …

Autism spectrum disorder (ASD) has phenotypically and genetically heterogeneous
characteristics. A simulation study demonstrated that attempts to categorize patients with a …