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

Molecular subtyping and improved treatment of neurodevelopmental disease.

Genome medicine - 25 Feb 2016

Stessman Holly A F, Turner Tychele N, Eichler Evan E

Abstract excerpt

The next-generation sequencing revolution has substantially increased our understanding of the mutated genes that underlie complex neurodevelopmental disease. Exome sequencing has enabled us to estimate the number of genes involved in the etiology of neurodevelopmental disease, whereas targeted sequencing approaches have provided the means for quick and cost-effective sequencing of thousands of patient samples to...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Genome, Human
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Molecular Diagnostic Techniques

Share to Neurodevelopmental Disorders

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 26917491
DOI: 10.1186/s13073-016-0278-z
PMCID: PMC4766622

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular subtyping and improved treatment of neurodevelopmental disease.PMID 26917491Read ↗

The frontiers of sequencing in undiagnosed neurodevelopmental diseases.Semantic proximity Read ↗

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersSemantic proximity Read ↗

The diverse genetic landscape of neurodevelopmental disorders.Semantic proximity Read ↗

Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Semantic proximity Read ↗

A genetic model for neurodevelopmental disease.Semantic proximity Read ↗

Utility of Whole-Exome Sequencing in Pediatric and Medical DiagnosisSemantic proximity Read ↗

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.Semantic proximity Read ↗

Genomic Diagnosis for Neurodevelopmental Disorders: Revolution, Evolution, And Current Reflections on the “Rational Diagnostic Evaluation”Semantic proximity Read ↗

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.Semantic proximity Read ↗

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsSemantic proximity Read ↗

Clinical whole exome sequencing in child neurology practice.Semantic proximity Read ↗

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.Semantic proximity Read ↗

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