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 exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal of medical genetics - 1 Aug 2020

Dong Xinran, Liu Bo, Yang Lin, Wang Huijun, Wu Bingbing, Liu Renchao, Chen Hongbo, Chen Xiang, Yu Sha, Chen Bin, Wang Sujuan, Xu Xiu, Zhou Wenhao, Lu Yulan

Abstract excerpt

BACKGROUND: Developmental disorders (DDs) are early onset disorders affecting 5%-10% of children worldwide. Chromosomal microarray analysis detecting CNVs is currently recommended as the first-tier test for DD diagnosis. However, this analysis omits a high percentage of disease-causing single nucleotide variations (SNVs) that warrant further sequencing. Currently, next-generation sequencing can be used in...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Intellectual Disability

Share to Methyl-CpG-Binding Protein 2

Share to Microarray Analysis

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 32005694
DOI: 10.1136/jmedgenet-2019-106377
PMCID: PMC7418612

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.PMID 32005694Read ↗

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

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.Semantic 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 ↗

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

Genomic Landscape and Diagnostic Yield of Chromosomal Microarray Analysis in 471 Turkish Children with Neurodevelopmental Disorders and Congenital AnomaliesSemantic 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 ↗

Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical InvestigationSemantic proximity Read ↗

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of careSemantic proximity Read ↗

Trio-WES with CNV-seq for Genetic Diagnosis of DD/ID in Children: A Single-Center Study in ChinaSemantic proximity Read ↗

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.Semantic proximity Read ↗

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in KoreaSemantic proximity Read ↗

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Semantic proximity Read ↗

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