This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

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 …

Advances in neuroimaging, developmental biology and molecular genetics have increased
the understanding of developmental disorders affecting the midbrain and hindbrain, both as …

Halgren C, Kjaergaard S, Bak M, Hansen C, El‐Schich Z, Anderson CM, Henriksen KF,
Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CAL, Isidor …

The hallmarks of FOXG1 syndrome, which results from mutations in a single FOXG1 allele,
include cortical atrophy and corpus callosum agenesis. However, the etiology for these …

Microarray‐based copy number analysis has found its way into routine clinical practice,
predominantly for the diagnosis of patients with unexplained mental retardation. However …

Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by
moderate to severe intellectual disability (ID) with limited or no expressive speech …

Based on genomic rearrangements and copy number variations, the contactin-associated
protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such …

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several
human diseases, such as neurodegenerative diseases. The RNA splicing process is …

Polymicrogyria is a malformation of cortical development characterized by loss of the normal
gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly …