×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
28894305
2017
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
28981474
2017
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
28894305
2017
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
27957503
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
27957503
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
27344577
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
26969326
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
27353947
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
CausalMutation
CLINVAR
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
27460420
2016
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
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
USHER SYNDROME, TYPE IIA
1.000
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
USHER SYNDROME, TYPE IIA
1.000
GeneticVariation
CLINVAR
Molecular findings from 537 individuals with inherited retinal disease.
27208204
2016