Compared with other mammals, the genomes of humans and other primates show an
enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence …

A number of long coiled-coil proteins are present on the Golgi. Often referred to as “golgins,”
they are well conserved in evolution and at least five are likely to have been present in the …

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and
variable facial and digital dysmorphisms. We describe nine affected individuals, including …

TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has
been implicated in neuronal progenitor proliferation and expansion of the frontal cortex. The …

The centriole and basal body (CBB) structure nucleates cilia and flagella, and is an essential
component of the centrosome, underlying eukaryotic microtubule-based motility, cell division …

Background: Recurrent 15q13. 3 microdeletions were recently identified with identical
proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental …

Gene duplication is one of the key factors driving genetic innovation, ie, producing novel
genetic variants. Although the contribution of whole-genome and segmental duplications to …

The synaptic vesicle glycoprotein 2 (SV2) family is comprised of three paralogues: SV2A,
SV2B, and SV2C. In vertebrates, SV2s are 12-transmembrane proteins present on every …

Using comparative sequencing approaches, we investigated the evolutionary history of the
European-enriched 17q21. 31 MAPT inversion polymorphism. We present a detailed, BAC …

Recurrent deletions of chromosome 15q13. 3 associate with intellectual disability,
schizophrenia, autism and epilepsy. To gain insight into the instability of this region, we …