Bipolar disorder (BD) is one of the most heritable mental illnesses, but the elucidation of its
genetic basis has proven to be a very challenging endeavor. Genome-Wide Association …

Chromosome structural variation (SV) is a normal part of variation in the human genome, but
some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA …

Genome-wide association studies (GWAS) have identified> 250 loci for body mass index
(BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …

Copy number variants (CNVs) are regions of the genome that vary in integer copy number.
CNVs, which comprise both amplifications and deletions of DNA sequence, have been …

Abstract The Developmental Origins of Health and Disease (DOHaD) paradigm is one of the
most rapidly expanding areas of biomedical research. Environmental stressors that can …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Copy-number variations (CNVs) represent a significant proportion of the genetic differences
between individuals and many CNVs associate causally with syndromic disease and clinical …

Complex chromosome rearrangements (CCRs) are currently defined as structural genome
variations that involve more than 2 chromosome breaks and result in exchanges of …

One common hypothesis to explain the impacts of tandem duplications is that whole gene
duplications commonly produce additive changes in gene expression due to copy number …