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 …

Objective We evaluated >8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the average …

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic
aspects of GRIN2B encephalopathy and explored potential prospects of personalised …

Purpose Mosaicism probably represents an underreported cause of genetic disorders due to
detection challenges during routine molecular diagnostics. The purpose of this study was to …

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

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic
de novo variants. Epidemiological disease estimates are not available for the vast majority of …

Objective To determine the cause and course of a novel syndrome with progressive
encephalopathy and brain atrophy in children. Methods Clinical whole‐exome sequencing was …

Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV
7.2 are associated with early onset epilepsy and/or developmental disability, but the …

Within nine dentin dysplasia (DD) (type II) and dentinogenesis imperfecta (type II and III)
patient/families, seven have 1 of 4 net –1 deletions within the ∼2‐kb coding repeat domain of …

Importance It is currently unknown how often and in which ways a genetic diagnosis given to
a patient with epilepsy is associated with clinical management and outcomes. Objective To …