Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

Developmental progression is driven by specific spatiotemporal domains of gene
expression, which give rise to stereotypically patterned embryos even in the presence of …

Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

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 …

Over the past decades the search for disease causing variants has been focusing
exclusively on the coding genome. This highly selective approach has been extremely …

Background Recent data from genome-wide chromosome conformation capture analysis
indicate that the human genome is divided into conserved megabase-sized self-interacting …

Limb-specific Shh expression is regulated by the (∼ 1 Mb distant) ZRS enhancer. In the
mouse, limb bud-restricted spatiotemporal Shh expression occurs from∼ E10 to E11. 5 at …

Recent investigations into the mechanism of limb development have clarified the roles of
several molecules, their pathways, and interactions. Characterization of the molecular …

The development of the human cerebral cortex is a complex and dynamic process, in which
neural stem cell proliferation, neuronal migration, and post-migratory neuronal organization …

Common neurodevelopmental disorders (including autism, speech and language delay,
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …