ArticleNPJ genomic medicine2021
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.Frontiers in neurologyPooled it
- Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.The Lancet regional health. Europe · 2026Article
- Integrating genome and RNA sequencing to enhance diagnostic precision in cerebral palsy.BMC pediatrics · 2026Article
- Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.EBioMedicine · 2026Article
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling.Current neurology and neuroscience reports · 2026Review
- Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.EBioMedicine · 2025Article
- Genetic testing in cerebral palsy with clinical and neuroimaging variables.Developmental medicine and child neurology · 2025Article
- Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.Cell reports. Medicine · 2025Article
- Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.NPJ genomic medicine · 2025Article
- Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.Annals of rehabilitation medicine · 2024Article
- Review
- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Nature medicine · 2024Article
- Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Nature genetics · 2024Article
- Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.Annals of clinical and translational neurology · 2024Article
- Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention.BMC pediatrics · 2023Article
- Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.Nature reviews. Neurology · 2023Review
- AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.Disease models & mechanisms · 2023Article
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
- AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
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 evidence for a major contribution of genetics to CP aetiology, genetic testing is currently not performed systematically. We assessed the diagnostic rate of genome sequencing (GS) in a clinically unselected cohort of 150 singleton CP patients, with CP confirmed at >4 years of age. Clinical grade GS was performed on the proband and variants were filtered, and classified according to American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines. Variants classified as pathogenic or likely pathogenic (P/LP) were further assessed for their contribution to CP. In total, 24.7% of individuals carried a P/LP variant(s) causing or increasing risk of CP, with 4.7% resolved by copy number variant analysis and 20% carrying single nucleotide or indel variants. A further 34.7% carried one or more rare, high impact variants of uncertain significance (VUS) in variation intolerant genes. Variants were identified in a heterogeneous group of genes, including genes associated with hereditary spastic paraplegia, clotting and thrombophilic disorders, small vessel disease, and other neurodevelopmental disorders. Approximately 1/2 of individuals were classified as likely to benefit from changed clinical management as a result of genetic findings. In addition, no significant association between genetic findings and clinical factors was detectable in this cohort, suggesting that systematic sequencing of CP will be required to avoid missed diagnoses.
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Registered trials
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