Article

A Hidden Structural Variation in a Known IRD Gene: A Cautionary Tale of Two New Disease Candidate Genes

2021-10-30

Abstract excerpt

<h4>ABSTRACT</h4> Rod cone dystrophy (RCD), also known as retinitis pigmentosa, is an inherited condition leading to vision loss, affecting 1/3500 people. Over 270 genes are known to be implicated in the inherited retinal degenerations (IRDs), yet genetic diagnosis for ∼30% IRD of patients remains elusive despite advances in sequencing technologies. The goal of this study was to determine the genetic causality in...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9816ac32-5cd8-54a4-9213-307a750a96c5
DOI: 10.1101/2021.10.29.21265657

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Hidden Structural Variation in a Known IRD Gene: A Cautionary Tale of Two New Disease Candidate GenesDOI 10.1101/2021.10.29.21265657Read

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.Semantic proximity Read

Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care CenterSemantic proximity Read

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Semantic proximity Read

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Semantic proximity Read

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variantsSemantic proximity Read

A Novel Copy Number Variation in PRPF31 Causes Dominant Rod-Cone Dystrophy By HaploinsufficiencySemantic proximity Read

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.Semantic proximity Read

State of the Art on Inherited Retinal Dystrophies: Management and Molecular GeneticsSemantic proximity Read

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal diseaseSemantic proximity Read

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophySemantic proximity Read