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