[HTML][HTML] Atypical cerebral palsy: genomics analysis enables precision medicine
Purpose The presentation and etiology of cerebral palsy (CP) are heterogeneous.
Diagnostic evaluation can be a prolonged and expensive process that might remain …
Diagnostic evaluation can be a prolonged and expensive process that might remain …
Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
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 …
degenerative disorders of motor function. Around one-third of cases have now been shown …
A diagnostic approach for cerebral palsy in the genomic era
An ongoing challenge in children presenting with motor delay/impairment early in life is to
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
CL van Eyk, DL Webber, AE Minoche… - NPJ genomic …, 2021 - nature.com
Cerebral palsy (CP) is the most common cause of childhood physical disability, with
incidence between 1/500 and 1/700 births in the developed world. Despite increasing …
incidence between 1/500 and 1/700 births in the developed world. Despite increasing …
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing
M Rosello, A Caro-Llopis, C Orellana, S Oltra… - Pediatric …, 2021 - nature.com
Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder that causes
movement and postural disabilities. Recent research studies focused on genetic diagnosis …
movement and postural disabilities. Recent research studies focused on genetic diagnosis …
Insights from genetic studies of cerebral palsy
SA Lewis, S Shetty, BA Wilson, AJ Huang… - Frontiers in …, 2021 - frontiersin.org
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 …
(CNV) studies have identified genetic etiologies for a sizable proportion of patients with …
Genetic testing in various neurodevelopmental disorders which manifest as cerebral palsy: a case study from Iran
M Nejabat, S Inaloo, AT Sheshdeh… - Frontiers in …, 2021 - frontiersin.org
Purpose: Cerebral palsy (CP) is a heterogeneous permanent disorder impacting movement
and posture. Investigations aimed at diagnosing this disorder are expensive and time …
and posture. Investigations aimed at diagnosing this disorder are expensive and time …
The emerging genetic landscape of cerebral palsy
CL Van Eyk, MA Corbett, AH Maclennan - Handbook of clinical neurology, 2018 - Elsevier
Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group
of nonprogressive neurodevelopmental disabilities affecting movement and posture. While …
of nonprogressive neurodevelopmental disabilities affecting movement and posture. While …
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
M Chopra, DL Gable, J Love‐Nichols… - Annals of clinical …, 2022 - Wiley Online Library
Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to
single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we …
single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we …
Molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy: a systematic review and meta-analysis
S Srivastava, SA Lewis, JS Cohen, B Zhang… - JAMA …, 2022 - jamanetwork.com
Importance There are many known acquired risk factors for cerebral palsy (CP), but in some
cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a …
cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a …