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 Currently, the diagnostic yield of exome sequencing (ES) and chromosomal
microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies …

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

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 …

The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and
incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of …

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 …

Cerebral palsy is a diagnostic term utilized to describe a group of permanent disorders
affecting movement and posture. Patients with cerebral palsy are often only capable of …

CTNNB1 syndrome is a rare monogenetic disorder caused by CTNNB1 de novo pathogenic
heterozygous loss-of-function variants that result in cognitive and motor disabilities …

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging
research suggests that genetic variations are also important causes of CP. While microarray …

Cerebral palsy (CP) has been recognized as a group of neurologic disorders with varying
etiologies and ontogenies. While a percentage of CP cases arises during labor, the …