Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

Importance Exome sequencing is a first-tier diagnostic test for individuals with
neurodevelopmental disorders, including intellectual disability/developmental delay and …

Cerebral palsy is the most prevalent physical disability in children; however, its inherent
molecular mechanisms remain unclear. In the present study, we performed in-depth clinical …

Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of
major genetic variants in the etiology of CP, we conducted exome sequencing on a large …

Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or
posture, beginning early in development. Early family and twin studies and more recent …

Cohort-based whole exome and whole genome sequencing and copy number variant
(CNV) studies have identified genetic etiologies for a sizable proportion of patients with …

JAMA Pediatr. Published online March 6, 2023. doi: 10.1001/jamapediatrics. 2023.0008 3.
Srivastava S, Lewis SA, Cohen JS, et al. Molecular diagnostic yield of exome sequencing …

AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing,
we compared the rate of likely causative genetic variants from whole‐exome sequencing in …

Aim To conduct a systematic review of phenotypic definition and case ascertainment in
published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of …