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

Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.

Current opinion in genetics & development - 1 Jun 2021

Yusuff Tanzeen, Kellaris Georgios, Girirajan Santhosh, Katsanis Nicholas

Abstract excerpt

Genetic architecture predisposes regions of the human genome to copy-number variants, which confer substantial disease risk, most prominently towards neurodevelopmental disorders. These variants typically contain multiple genes and are often associated with extensive pleiotropy and variable phenotypic expressivity. Despite the expansion of the fidelity of CNV detection, and the study of such lesions at the...

Read the complete abstract on PubMed

Topics

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

Share to Disease Models, Animal
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drosophila

Share to Gene Dosage

Share to Genetic Association Studies

Share to High-Throughput Screening Assays

Share to Neurodevelopmental Disorders

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 33812298
DOI: 10.1016/j.gde.2021.02.013
PMCID: PMC9337981

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.PMID 33812298Read ↗

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Semantic proximity Read ↗

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disordersSemantic proximity Read ↗

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.Semantic proximity Read ↗

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.Semantic proximity Read ↗

Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletionSemantic proximity Read ↗

<i>Drosophila</i> models of pathogenic copy-number variant genes show global and non-neuronal defects during developmentSemantic proximity Read ↗

CNV biology in neurodevelopmental disorders.Semantic proximity Read ↗

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Semantic proximity Read ↗

Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism.Semantic proximity Read ↗

CNVs and genetic medicine (excitement and consequences of a rediscovery).Semantic proximity Read ↗

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders.Semantic proximity Read ↗

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.Semantic proximity Read ↗

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