Recent genome-sequencing studies in human neurodevelopmental and psychiatric
disorders have uncovered mutations in many chromatin regulators. These human genetic …

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 …

To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Genetics is believed to have an important role in intellectual disability (ID). Recent studies
have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which …

The ubiquitylation of proteins is carried out by E1, E2 and E3 (ubiquitin ligase) enzymes, and
targets them for degradation or for other cellular fates. The HECT enzymes, including Nedd4 …

Quiescence is essential for long-term maintenance of adult stem cells. Niche signals
regulate the transit of stem cells from dormant to activated states. Here, we show that the E3 …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

Eukaryotic protein degradation by the proteasome and the lysosome is a dynamic and
complex process in which ubiquitin has a key regulatory role. The distinctive morphology of …

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …