×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
28944237 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
28512305 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
28894305 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
28894305 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
28041643 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
28761320 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
28512305 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
28944237 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
28838317 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
28000701 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
28981474 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
28041643 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
28157192 2017
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
26856745 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
26927203 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Molecular findings from 537 individuals with inherited retinal disease.
27208204 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
27957503 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
27032803 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
28005958 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
27318125 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
GeneticVariation
CLINVAR
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
26969326 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Molecular findings from 537 individuals with inherited retinal disease.
27208204 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
27624628 2016
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
RETINITIS PIGMENTOSA 39 (disorder)
0.700
CausalMutation
CLINVAR
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
27353947 2016