ArticleNPJ genomic medicine2018
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Article in NPJ genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers.
What it found
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Who cites it
24 citing papers in PubMed, 47 citations in OpenAlex.
- Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.Human genetics · 2026Article
- Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.EBioMedicine · 2025Article
- Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia.Developmental medicine and child neurology · 2025Review
- A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.Clinical genetics · 2025Article
- Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.NPJ genomic medicine · 2025Article
- Review
- Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Nature genetics · 2024Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.BMC genomics · 2023Article
- Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study.Developmental neuroscience · 2023Article
- In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.Brain : a journal of neurology · 2022Article
- Mendelian etiologies identified with whole exome sequencing in cerebral palsy.Annals of clinical and translational neurology · 2022Article
- An Emerging Role for Epigenetics in Cerebral Palsy.Journal of personalized medicine · 2021Review
- Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.NPJ genomic medicine · 2021Article
- Resistance to Neuromuscular Blockade by Rocuronium in Surgical Patients with Spastic Cerebral Palsy.Journal of personalized medicine · 2021Article
- Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Long overdue: including adults with brain disorders in precision health initiatives.Current opinion in genetics & development · 2020Review
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by exome sequencing and a further 5% (9/182) from evidence of outlier gene expression using RNA sequencing. Here, we detected copy number variants (CNV) from exomes of 186 unrelated individuals with CP (including our original 98 trios) using the CoNIFER algorithm. CNV were validated with Illumina 850 K SNP arrays and compared with RNA-Seq outlier gene expression analysis from lymphoblastoid cell lines (LCL). Gene expression was highly correlated with gene dosage effect. We resolved an additional 3.7% (7/186) of this cohort with pathogenic or likely pathogenic CNV while a further 7.7% (14/186) had CNV of uncertain significance. We identified recurrent genomic rearrangements previously associated with CP due to 2p25.3 deletion, 22q11.2 deletions and duplications and Xp monosomy. We also discovered a deletion of a single gene,
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.