ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
CNV profiles of Chinese pediatric patients with developmental disorders.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.Molecular genetics & genomic medicine · 2023Pooled it
- Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism.Current issues in molecular biology · 2026Article
- Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.European journal of pediatrics · 2026Article
- The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.Pediatric research · 2026Article
- Rare 19q13.42 duplication encompassingTranslational pediatrics · 2026Article
- Decoding the Genetic Enigma: A Case Study on Congenital Anomalies with Developmental Delay and 9q Duplication Unveiled Via Comprehensive Whole Exome Sequencing and Cytogenetic Analysis.Iranian journal of child neurology · 2026Article
- 16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.BMC pregnancy and childbirth · 2025Article
- Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.Pediatric research · 2025Article
- The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.BMC medicine · 2025Article
- Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study.Frontiers in neurology · 2025Article
- Comprehensive evaluation of the child with global developmental delays or intellectual disability.Clinical and experimental pediatrics · 2024Article
- Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.Orphanet journal of rare diseases · 2024Article
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.Scientific reports · 2024Article
- Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.Molecular autism · 2023Article
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.Italian journal of pediatrics · 2022Article
- The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.Frontiers in pediatrics · 2022Article
- Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.Frontiers in genetics · 2022Article
- Translational Study of Copy Number Variations in Schizophrenia.International journal of molecular sciences · 2021Article
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Authors and funding
40 authors.
Funding
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Abstract
purposeTo examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders.
methodsDe-identified chromosomal microarray (CMA) data from 10,026 pediatric patients with developmental disorders were collected for re-evaluating the pathogenic CNV (pCNV) yields of different medical conditions and for comparing the frequency and phenotypic variability of genomic disorders between the Chinese and Western patient populations.
resultsThe overall yield of pCNVs in the Chinese pediatric patient cohort was 21.37%, with variable yields for different disorders. Yields of pCNVs were positively associated with phenotypic complexity and intellectual disability/developmental delay (ID/DD) comorbidity for most disorders. The genomic burden and pCNV yield in neurodevelopmental disorders supported a female protective effect. However, the stratification analysis revealed that it was seen only in nonsyndromic ID/DD, not in nonsyndromic autism spectrum disorders or seizure. Furthermore, 15 known genomic disorders showed significantly different frequencies in Chinese and Western patient cohorts, and profiles of referred clinical features for 15 known genomic disorders were also significantly different in the two cohorts.
conclusionWe defined the pCNV yields and profiles of the Chinese pediatric patients with different medical conditions and uncovered differences in the frequency and phenotypic diversity of genomic disorders between Chinese and Western patients.
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