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 Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.

Genes - 2 Jun 2022

Hu Chunchun, He Linlin, Li Huiping, Ding Yanhua, Zhang Kaifeng, Li Dongyun, Zhu Guoqing, Wu Bingbing, Xu Xiu, Xu Qiong

Abstract excerpt

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder in which genetics play a major role. Molecular diagnosis may lead to a more accurate prognosis, improved clinical management, and potential treatment of the condition. Both copy number variations (CNVs) and single nucleotide variations (SNVs) have been reported to contribute to the genetic etiology of ASD. The effectiveness and validity...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35741772
DOI: 10.3390/genes13061010
PMCID: PMC9222325

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.PMID 35741772Read ↗

Molecular diagnosis of 405 individuals with autism spectrum disorder.Semantic proximity Read ↗

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.Semantic proximity Read ↗

[Molecular diagnosis of genetic polymorphisms related to autism spectrum disorder in children based on multi-PCR targeted sequencing technology].Semantic proximity Read ↗

High-throughput sequencing of autism spectrum disorders comes of age.Semantic proximity Read ↗

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.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 ↗

A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder.Semantic proximity Read ↗

Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.Semantic proximity Read ↗

Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.Semantic proximity Read ↗

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.Semantic proximity Read ↗

State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians.Semantic proximity Read ↗

A critical review of the impact of candidate copy number variants on autism spectrum disorder.Semantic proximity Read ↗

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