We summarize, in this review, the evidence that genomic balance influences gene
expression, quantitative traits, dosage compensation, aneuploid syndromes, population …

Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21)
and is the most common genetic cause of significant intellectual disability. In addition to …

Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been
implicated in tumorigenesis. However, the causes of aneuploidy-induced phenotypes and …

There is increasing evidence suggesting that stoichiometric imbalances in macromolecular
complexes and in signaling/transcriptional networks are a source of dosage-dependent …

It has been widely acknowledged that non-coding RNAs are master-regulators of genomic
functions. However, the significance of the presence of ncRNA within introns has not …

Down syndrome (DS) is characterized by brain hypotrophy and intellectual disability starting
from early life stages. Accumulating evidence shows that the phenotypic features of the DS …

Extensive departures from balanced gene dose in aneuploids are highly deleterious.
However, we know very little about the relationship between gene copy number and …

SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how
vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID …

To characterize the differences between second trimester Down syndrome (DS) and euploid
fetuses, we used Affymetrix microarrays to compare gene expression in uncultured amniotic …

Changes in dosage of part of the genome (aneuploidy) have long been known to produce
much more severe phenotypic consequences than changes in the number of whole …