Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …

The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …

Enhancers can regulate the promoters of their target genes over very large genomic
distances. It is widely assumed that mechanisms of enhancer action involve the …

We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …

Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

Background The human genome contains “dark” gene regions that cannot be adequately
assembled or aligned using standard short-read sequencing technologies, preventing …

Three embryonic tissue sources—the neural ectoderm, the surface ectoderm, and the
periocular mesenchyme—contribute to the formation of the mammalian eye. For this reason …

The paraventricular nucleus of the hypothalamus (PVH), located in the ventral diencephalon
adjacent to the third ventricle, is a highly conserved brain region present in species from …

Despite continual progress in the cataloging of vertebrate regulatory elements, little is known
about their organization and regulatory architecture. Here we describe a massively parallel …

Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …