Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.

European journal of pediatrics - 6 Jun 2026

Wang Bing, Ji Xinna, Wu Fan, Shen Mengyao, Zheng Ping, Feng Shuo, Wu Huanhuan, Li Shupin, Liu Aijie, Xie Lina, Zhang Xue, Chen Qian

Abstract excerpt

Global developmental delay (GDD) and intellectual disability (ID) are common neurodevelopmental disorders with a strong genetic basis. However, comprehensive large-cohort analyses integrating genotype-phenotype correlations and functional mechanisms remain limited. This study aimed to systematically characterize the clinical and genetic spectrum of GDD/ID in a large single-center cohort and to explore the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Genetic Testing

Share to Infant

Share to Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 42250153
DOI: 10.1007/s00431-026-07111-1
PMCID: PMC13242393

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.PMID 42250153Read ↗

Genetic Testing for Global Developmental Delay in Early ChildhoodSemantic proximity Read ↗

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Semantic proximity Read ↗

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective studySemantic proximity Read ↗

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Semantic proximity Read ↗

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.Semantic proximity Read ↗

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disordersSemantic proximity Read ↗

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.Semantic proximity Read ↗

Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel ChallengeSemantic proximity Read ↗

Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.Semantic proximity Read ↗

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsSemantic proximity Read ↗

Shared and distinct phenotypic profiles among neurodevelopmental disorder genesSemantic proximity Read ↗

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.