An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …

Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Alternative splicing contributes to the majority of protein diversity in higher eukaryotes by
allowing one gene to generate multiple distinct protein isoforms. It adds another regulation …

The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Background There is considerable interest in the use of next-generation sequencing to help
diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a …

Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …

Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …

Abstract Detection of Identical-By-Descent (IBD) segments provides a fundamental measure
of genetic relatedness and plays a key role in a wide range of analyses. We develop …

Purpose: Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of
craniofacial development belonging to the heterogeneous group of mandibulofacial …

Nager syndrome, first described more than 60 years ago, is the archetype of a class of
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …