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

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

American journal of human genetics - 4 Aug 2016

Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nicholas

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been identified through sequencing. Recent data have suggested that copy-number variants (CNVs) also contribute to BBS. We used a custom oligonucleotide array comparative genomic hybridization (aCGH) covering 20 genes that encode intraflagellar transport (IFT) components and 74...

Read the complete abstract on PubMed

Topics

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

Share to Bardet-Biedl Syndrome
Share to Chromosome Breakpoints

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to DNA Copy Number Variations

Share to Gastrulation

Share to Genes, Recessive

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27486776
DOI: 10.1016/j.ajhg.2015.04.023
PMCID: PMC4974085

Genes

BBS9
ALMS1
ARL6
BBS1
BBS2
BBS4
BBS5
BBS7
IFT74
NPHP1
NPHP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.PMID 27486776Read ↗

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.Semantic proximity Read ↗

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.Semantic proximity Read ↗

Allelic overload and its clinical modifier effect in Bardet-Biedl syndromeSemantic proximity Read ↗

Investigation of genetic variants causing Bardet–Biedl syndrome in Iranian families: Identification of a founder mutation in BBS2, p.T157TSemantic proximity Read ↗

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndromeSemantic proximity Read ↗

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Semantic proximity Read ↗

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.Semantic proximity Read ↗

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.Semantic proximity Read ↗

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.Semantic proximity Read ↗

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.Semantic proximity Read ↗

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.Semantic proximity Read ↗

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