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

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.

Ophthalmic genetics - 1 Oct 2021

Choi Jae-Hwan, Kim Su-Jin, Thomas Mervyn G, Jung Jae-Ho, Oh Eun Hye, Shin Jin-Hong, Cho Jae Wook, Kim Hyang-Sook, Park Ji-Yun, Choi Seo Young, Choi Hee Young, Choi Kwang-Dong

Abstract excerpt

Background: Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. Identifying genetic causes of INS would help clinicians to facilitate clinical diagnosis and provide appropriate treatment. The aim of this study was to determine the diagnostic utility of targeted next-generation sequencing (NGS) for INS.Materials and methods: We recruited 37 patients who were referred to the...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Nystagmus, Congenital

Share to Pedigree

Share to Sensitivity and Specificity

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 34132631
DOI: 10.1080/13816810.2021.1938138

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

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.PMID 34132631Read ↗

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.Semantic proximity Read ↗

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.Semantic proximity Read ↗

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Semantic proximity Read ↗

Clinical utility gene card for FRMD7-related infantile nystagmus.Semantic proximity Read ↗

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.Semantic proximity Read ↗

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.Semantic proximity Read ↗

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsySemantic proximity Read ↗

Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations.Semantic proximity Read ↗

Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.Semantic proximity Read ↗

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.Semantic proximity Read ↗

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.Semantic proximity Read ↗

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.Semantic proximity Read ↗

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