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

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2012

Coppieters Frauke, De Wilde Bram, Lefever Steve, De Meester Ellen, De Rocker Nina, Van Cauwenbergh Caroline, Pattyn Filip, Meire Françoise, Leroy Bart P, Hellemans Jan, Vandesompele Jo, De Baere Elfride

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is a rare congenital retinal dystrophy associated with 16 genes. Recent breakthroughs in LCA gene therapy offer the first prospect of treating inherited blindness, which requires an unequivocal and early molecular diagnosis. While present genetic tests do not address this due to a tremendous genetic heterogeneity, massively parallel sequencing (MPS) strategies might bring...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Blindness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Consanguinity

Share to Guanylate Cyclase

Share to Leber Congenital Amaurosis

Share to Molecular Diagnostic Techniques

Share to Validation Studies as Topic

Source

Identifiers

PMID: 22261762
DOI: 10.1038/gim.2011.51

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

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.PMID 22261762Read ↗

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Semantic proximity Read ↗

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Semantic proximity Read ↗

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.Semantic proximity Read ↗

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisSemantic proximity Read ↗

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisSemantic proximity Read ↗

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.Semantic proximity Read ↗

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.Semantic proximity Read ↗

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.Semantic proximity Read ↗

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.Semantic proximity Read ↗

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Semantic proximity Read ↗

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.Semantic proximity Read ↗

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Semantic proximity Read ↗

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