ArticleNature medicine2024
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
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Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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26citing papers in PubMed, 1 pooled it
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26 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- 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
- Early neurodevelopmental outcome in newborns with mild hypoxic-ischaemic encephalopathy.Developmental medicine and child neurology · 2026Observational
- Identifying SHROOM4 as a novel X-linked susceptibility gene for cerebral palsy in Chinese males.BMC pediatrics · 2026Article
- Standardizing early cerebral palsy detection in high-risk infants: reducing age at diagnosis through a quality improvement initiative.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk.Journal of neurodevelopmental disorders · 2026Article
- Chinese expert consensus on the diagnostic definition of cerebral palsy.BMJ paediatrics open · 2026Article
- Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.Communications medicine · 2026Article
- Intrathecal Baclofen in Children with Cerebral Palsy: A Critical Review of Selection Criteria, Rehabilitation Goals, Outcomes, and Complications.Journal of clinical medicine · 2026Review
- Integrating genome and RNA sequencing to enhance diagnostic precision in cerebral palsy.BMC pediatrics · 2026Article
- Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026Article
- Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Scientific reports · 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
- MRI patterns and clinical outcomes in cerebral palsy: insights from a large MRICS-based cohort.Journal of neurodevelopmental disorders · 2025Article
- Neonatal encephalopathy and hypoxic-ischemic encephalopathy: the state of the art.Pediatric research · 2025Review
- Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.EBioMedicine · 2025Article
- Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy.Nature communications · 2025Article
- Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.medRxiv : the preprint server for health sciences · 2025Article
- Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.Developmental neuroscience · 2025Article
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Authors and funding
34 authors at 9 institutions in 4 countries.
Yangong Wang *Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Yiran Xu *Department of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Chongchen Zhou *Rehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Ye Cheng *Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.ORCID 0000-0002-7380-8233
Niu QiaoState Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, National Research Center for Translational Medicine (Shanghai), and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
Qing ShangRehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Lei XiaDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Juan SongDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Chao GaoRehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Yimeng QiaoChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Xiaoli ZhangDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Ming LiDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Caiyun MaRehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Yangyi FanChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Xirui PengDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Silin WuDepartment of Neurosurgery, The Affiliated Zhongshan Hospital of Fudan University, Shanghai, China.ORCID 0000-0002-4599-1851
Nan LvRehabilitation Department, Henan Key Laboratory of Child Genetics and Metabolism, Children's Hospital of Zhengzhou University, Zhengzhou, China.
Bingbing LiDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Yanyan SunDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Bohao ZhangDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Tongchuan LiDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Hongwei LiDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Jin ZhangChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Yu SuChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Qiaoli LiChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Junying YuanDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Lei LiuChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China.
Andres Moreno-De-LucaDepartment of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.ORCID 0000-0002-2732-4043
Alastair H MacLennanRobinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
Jozef GeczRobinson Research Institute and Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.ORCID 0000-0002-7884-6861
Dengna ZhuDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.
Xiaoyang WangCentre for Perinatal Medicine and Health, Institute of Clinical Science, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Changlian ZhuDepartment of Pediatrics, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China. changlian.zhu@neuro.gu.se.ORCID 0000-0002-5029-6730
Qinghe XingChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, China. qhxing@fudan.edu.cn.ORCID 0000-0002-9916-8254
Third Affiliated Hospital of Zhengzhou University · CNChildren's Hospital of Fudan University · CNZhengzhou University · CNNational Center for Women and Children’s Health, China CDC · CNThe University of Adelaide · AUQueen's University · CAShanghai Jiao Tong University · CNSun Yat-sen University · CNUniversity of Gothenburg · SE
Funding
National Natural Science Foundation of China (National Science Foundation of China) 31972880, 32170615, 31371274Science and Technology Commission of Shanghai Municipality (Shanghai Municipal Science and Technology Commission) 19JC1411001Vetenskapsrådet (Swedish Research Council) 2018-02267,2022-01019VINNOVA (Swedish Governmental Agency for Innovation Systems) ALFGBG-965197VINNOVA (Swedish Governmental Agency for Innovation Systems) ALFGBG-966034
Abstract
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-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59 P/LP copy number variants. The genetic diagnostic rate of children with CP labeled at birth with perinatal asphyxia was higher than the rate in children without asphyxia (P = 0.0033). Also, 33 children with CP manifestations (8.5%, 33 of 387) had findings that were clinically actionable. These results highlight the need for early genetic testing in children with CP, especially those with risk factors like perinatal asphyxia, to enable evidence-based medical decision-making.
Indexed as
Cerebral PalsyDNA Copy Number VariationsExome SequencingGenetic HeterogeneityChildChild, PreschoolCohort StudiesExomeFemaleGenetic Predisposition to DiseaseGenetic TestingHumansInfantInfant, NewbornMale
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