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

Pathogenic or not? Assessing the clinical relevance of copy number variants.

Clinical genetics - 1 Nov 2013

Hehir-Kwa J Y, Pfundt R, Veltman J A, de Leeuw N

Abstract excerpt

The availability of commercially produced genomic microarrays has resulted in the wide spread implementation of genomic microarrays, often as a first-tier diagnostic test for copy number variant (CNV) screening of patients who are suspected for chromosomal aberrations. Patients with intellectual disability (ID) and/or multiple congenital anomalies (MCA) were traditionally the main focus for this microarray-based...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosome Aberrations
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genome, Human

Share to Inheritance Patterns

Share to Intellectual Disability

Share to Oligonucleotide Array Sequence Analysis

Source

Identifiers

PMID: 23895381
DOI: 10.1111/cge.12242

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

Pathogenic or not? Assessing the clinical relevance of copy number variants.PMID 23895381Read ↗

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsSemantic proximity Read ↗

The impact of human copy number variation on a new era of genetic testingSemantic proximity Read ↗

Clinical interpretation of copy number variants in the human genome.Semantic proximity Read ↗

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.Semantic proximity Read ↗

Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital AnomaliesSemantic proximity Read ↗

What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders.Semantic proximity Read ↗

The clinical context of copy number variation in the human genome.Semantic proximity Read ↗

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.Semantic proximity Read ↗

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspectsSemantic proximity Read ↗

Clinical significance of de novo and inherited copy-number variation.Semantic proximity Read ↗

Prenatal detection of copy number variants.Semantic proximity Read ↗

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

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