During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral
hemispheres, and thereby facilitating the integration of motor and sensory information from …

Classical lissencephaly is a genetic neurological disorder associated with mental
retardation and intractable epilepsy, and Miller-Dieker syndrome (MDS) is the most severe …

Malformations of cortical development are common causes of developmental delay and
epilepsy. Some patients have early, severe neurological impairment, but others have …

Malformations of cortical development (MCD) represent a major cause of developmental
disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been …

While numerous studies have implicated copy number variants (CNVs) in a range of
neurological phenotypes, the impact relative to disease severity has been difficult to …

One of the most strikingrags to riches' stories in the protein world is that of 14-3-3, originally
identified in 1967 as merely an abundant brain protein. The first clues that 14-3-3 would play …

14-3-3 proteins exert an extraordinarily widespread influence on cellular processes in all
eukaryotes. They operate by binding to specific phosphorylated sites on diverse target …

Abstract Heterozygous deletions of 17p13. 3 result in the human neuronal migration
disorders isolated lissencephaly sequence (ILS) and the more severe Miller–Dieker …

The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …