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

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability

23 Jan 2024

Abstract excerpt

BACKGROUND: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID. METHODS: We conducted a retrospective analysis of WES...

Read the complete abstract on PubMed

Topics

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

Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38281861
DOI: 10.1016/j.pedneo.2023.05.015

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

Clinical use of whole exome sequencing in children with developmental delay/intellectual disabilityPMID 38281861Read ↗

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

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencingSemantic proximity Read ↗

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern ChinaSemantic proximity Read ↗

[Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay].Semantic proximity Read ↗

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

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?Semantic proximity Read ↗

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experienceSemantic proximity Read ↗

Genomic diagnosis for children with intellectual disability and/or developmental delay.Semantic proximity Read ↗

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

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental DelaySemantic proximity Read ↗

[Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders].Semantic proximity Read ↗

Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental DisordersSemantic proximity Read ↗

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