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

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Human mutation - 1 Apr 2016

Ma Alan S, Grigg John R, Ho Gladys, Prokudin Ivan, Farnsworth Elizabeth, Holman Katherine, Cheng Anson, Billson Frank A, Martin Frank, Fraser Clare, Mowat David, Smith James, Christodoulou John, Flaherty Maree, Bennetts Bruce, Jamieson Robyn V

Abstract excerpt

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is challenging due to marked genetic heterogeneity. In this study, next-generation sequencing (NGS) of 32 cataract-associated genes was undertaken in 46 apparently...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Crystallins

Share to Genes, X-Linked

Share to Inheritance Patterns

Share to PAX6 Transcription Factor

Share to Proto-Oncogene Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 26694549
DOI: 10.1002/humu.22948
PMCID: PMC4787201

Genes

BCOR
BFSP1
GJA8
MAF
MIP
NHS
PAX6
VIM

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

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.PMID 26694549Read ↗

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.Semantic proximity Read ↗

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencingSemantic proximity Read ↗

Personalized diagnosis and management of congenital cataract by next-generation sequencing.Semantic proximity Read ↗

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Semantic proximity Read ↗

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read ↗

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read ↗

Congenital Cataract and Its Genetics: The Era of Next-Generation SequencingSemantic proximity Read ↗

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.Semantic proximity Read ↗

Identification of 4 Novel Variants in 19 Families with Congenital CataractsSemantic proximity Read ↗

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genesSemantic proximity Read ↗

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesSemantic proximity Read ↗

Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.Semantic proximity Read ↗

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