Article

Clinically-guided mutation screening of two families with hereditary retinal disease

2017-10-21

Abstract excerpt

Hereditary retinal disease (HRD) is a series of Mendelian diseases affecting the retina in the eye. The genetic basis of HRD is very complicated, with more than 100 disease-causing genes being identified. Though NGS has allowed rapid and large-scale mutation screening of Mendelian disease, the cost of NGS still prevents its universal application all over the world, for an accurate molecular diagnosis. Here, by cli...

Topics

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

Identifiers and source

Literature Corpus work: 1849b38e-63ea-5346-8d38-4885fbcdf557
DOI: 10.1101/207068

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinically-guided mutation screening of two families with hereditary retinal diseaseDOI 10.1101/207068Read

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Semantic proximity Read

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.Semantic proximity Read

The current status of molecular diagnosis of inherited retinal dystrophies.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

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Semantic proximity Read

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.Semantic proximity Read

Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.Semantic proximity Read

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Semantic proximity Read

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Semantic proximity Read

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

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.Semantic proximity Read

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.Semantic proximity Read