Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Several genetic causes
of ASD have been identified and this has enabled researchers to construct mouse models …

Quantitative differences in gene expression emerge as a significant source of variation in
natural populations, representing an important substrate for evolution and accounting for a …

The GTF2IRD1 general transcription factor is a candidate for involvement in the varied
cognitive and neurobehavioral symptoms of the microdeletion disorder, Williams–Beuren …

The path to completion of the functional annotation of the haploid human genome reference
build, exploration of the clan genomics hypothesis, understanding human gene and genome …

Smith–Magenis syndrome (SMS) is a genetic disorder caused by haploinsufficiency of the
retinoic acid induced 1 (RAI1) gene. In addition to intellectual disabilities, behavioral …

Smith–Magenis syndrome (SMS; OMIM# 182290) is a complex genetic disorder
characterized by distinctive physical features, developmental delay, cognitive impairment …

A large fraction of genome variation between individuals is comprised of submicroscopic
copy number variation of genomic DNA segments. We assessed the relative contribution of …