Clinical actionability of genetic findings in cerebral palsy
Background and objectives: Single gene mutations are increasingly recognized as causes
of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for …
of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for …
[HTML][HTML] 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 …
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review
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 …
published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of …
Clinical characteristics suggestive of a genetic cause in cerebral palsy: A systematic review
AM Janzing, E Eklund, TJ De Koning, H Eggink - Pediatric Neurology, 2024 - Elsevier
ABSTRACT AIM To identify clinical characteristics that are associated with genetic cerebral
palsy (CP) to aid clinicians in selecting candidates for genetic testing. METHODS The …
palsy (CP) to aid clinicians in selecting candidates for genetic testing. METHODS The …
[HTML][HTML] 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 individuals with cerebral palsy
HJ May, JA Fasheun, JM Bain… - … Medicine & Child …, 2021 - Wiley Online Library
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 …
we compared the rate of likely causative genetic variants from whole‐exome sequencing in …
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 …
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 …
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 …
[HTML][HTML] Cerebral Palsy Genetics: Who to Test?
AIM: To determine which cerebral palsy (CP) patients should undergo genetic testing, we
compared the rate of likely causative genetic variants from whole exome sequencing (WES) …
compared the rate of likely causative genetic variants from whole exome sequencing (WES) …
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