Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive
cases at a single clinical laboratory. Methods: WES was performed for many different …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …

We report the development of a multiplex reverse transcription-polymerase chain reaction (RT-PCR)
method for the definitive identification of the body fluids that are commonly …

Conventional methods of body fluid identification use a variety of labor-intensive, technologically
diverse techniques that are performed in a series, not parallel, manner and are costly in …

An alternative approach to conventional protein‐based body fluid identification is gene
expression profiling analysis. In the present work, we report the development of sensitive and …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …

Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …

RNA expression patterns, including the presence and relative abundance of particular
mRNA species, provide cell and tissue specific information that could be used for body fluid …

Using whole-exome sequencing, we have identified in ten families 14 individuals with
microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, …

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent
of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated …