Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

The complexity of the human brain has made it difficult to study many brain disorders in
model organisms, highlighting the need for an in vitro model of human brain development …

Emerging evidence suggests that epigenetic regulation is dependent on metabolic state,
and implicates specific metabolic factors in neural functions that drive behaviour. In neurons …

The recent Zika virus (ZIKV) epidemic is associated with microcephaly in newborns.
Although the connection between ZIKV and neurodevelopmental defects is widely …

Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

Whole exome sequencing by high-throughput sequencing of target-enriched genomic DNA
(exome-seq) has become common in basic and translational research as a means of …

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

The present review discusses recent work on melatonin-mediated circadian regulation, the
metabolic and molecular signaling mechanisms that are involved in human breast cancer …