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

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

Chromosome conformation capture methods have identified subchromosomal structures of
higher-order chromatin interactions called topologically associated domains (TADs) that are …

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

Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene
result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a …

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 …

Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …

Genome-wide analysis methods, such as array comparative genomic hybridization (CGH)
and whole-genome sequencing (WGS), have greatly advanced the identification of structural …

The four vertebrate R-spondin proteins are secreted agonists of the canonical Wnt/β-catenin
signaling pathway. These proteins are approximately 35 kDa, and are characterized by two …