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

Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation.

Journal of autism and developmental disorders - 1 Mar 2023

Chow Julie C, Hormozdiari Fereydoun

Abstract excerpt

The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an approach for the accurate prediction of NDDs with very low false...

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 Mutation
Share to Neurodevelopmental Disorders

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

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 35596027
DOI: 10.1007/s10803-022-05586-z
PMCID: PMC9986216

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation.PMID 35596027Read ↗

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Semantic proximity Read ↗

Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders.Semantic proximity Read ↗

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Semantic proximity Read ↗

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disordersSemantic proximity Read ↗

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.Semantic proximity Read ↗

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disordersSemantic proximity Read ↗

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingSemantic proximity Read ↗

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patientsSemantic proximity Read ↗

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variantsSemantic proximity Read ↗

Prevalence and architecture of de novo mutations in developmental disorders.Semantic proximity Read ↗

<i>De novo</i> Variants in Neurodevelopmental Disorders with EpilepsySemantic proximity Read ↗

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.Semantic proximity Read ↗

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