Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

Chromosomal translocations, rearrangements involving the exchange of segments between
chromosomes, were documented in humans in 1959. The first accurately reported clinical …

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 …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

The proteasome processes proteins to facilitate immune recognition and host defense.
When inherently defective, it can lead to aberrant immunity resulting in a dysregulated …

Cerebral visual impairment (CVI) is a major cause of low vision in children due to
impairment in projection and/or interpretation of the visual input in the brain. Although …

Purpose Multilocus variation—pathogenic variants in two or more disease genes—can
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …

Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …

Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic
limb shortening, genital hypoplasia, and distinctive facial features and for which both …

Cerebellar malformations are diverse congenital anomalies frequently associated with
developmental disability. Although genetic and prenatal non-genetic causes have been …