Gene: USH2A

Alternate names for this Gene: RP39|US2|USH2|dJ1111A8.1

Gene Summary: This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: usherin

Type of Gene: protein-coding

rs4655413 in USH2A gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs2797221 in USH2A gene and Blood Pressure PMID 21060006 2010 Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.

rs397517994 in USH2A gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs80338903 in USH2A gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1553268563 in USH2A gene and Multiple congenital anomalies PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 17296898 2007 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PMID 20145675 2010 The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 21234346 2011 An update on the genetics of usher syndrome.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

rs80338903 in USH2A gene and Night blindness, congenital stationary PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1553268563 in USH2A gene and Overgrowth PMID 21234346 2011 An update on the genetics of usher syndrome.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

PMID 20145675 2010 The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 17296898 2007 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.

rs1003869920 in USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 28157192 2017 Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

PMID 24516651 2014 Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 17085681 2006 Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

PMID 27318125 2016 A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 19788668 2009 An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 12427073 2002 Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 12112664 2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PMID 16098008 2005 Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

PMID 24227914 2013 Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 21686329 2011 Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

PMID 17296898 2007 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

PMID 24498627 2014 Experience of targeted Usher exome sequencing as a clinical test.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 26927203 2016 Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

PMID 15241801 2004 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

PMID 15015129 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 25558175 2014 MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

PMID 25910913 2015 High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 28005958 2016 Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

PMID 27344577 2016 Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

PMID 27624628 2016 Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 25211151 2014 Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

PMID 25333064 2014 Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

PMID 27957503 2016 Usher syndrome in Denmark: mutation spectrum and some clinical observations.

PMID 28944237 2017 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.

PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

PMID 18665192 2008 Genomic instability and proliferative activity as risk factors for distant metastases in breast cancer.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

PMID 10738000 2000 Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 26496393 2015 Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

PMID 25324289 2014 Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

PMID 20052763 2010 Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

PMID 25252889 2015 Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

PMID 19737284 2009 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 28761320 2017 Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 24603341 2014 exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 25342620 2014 Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 22563300 2012 A genetic basis for mechanosensory traits in humans.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 18452394 2008 Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

PMID 15025721 2004 Mutational spectrum in Usher syndrome type II.

PMID 28838317 2017 Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

PMID 28894305 2017 Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

PMID 20497194 2011 Functional analysis of splicing mutations in MYO7A and USH2A genes.

PMID 27596865 2016 Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

PMID 20596040 2010 Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes.

PMID 25133613 2014 Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

PMID 27157150 2016 Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.

PMID 23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

PMID 20440071 2010 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

PMID 27583663 2016 Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

PMID 23767834 2013 Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 15823922 2005 Novel mutations in MYO7A and USH2A in Usher syndrome.

PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.

PMID 15671307 2005 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

PMID 21738395 2011 Molecular epidemiology of Usher syndrome in Italy.

PMID 24853665 2015 Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

PMID 22009552 2012 Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.

PMID 24607488 2014 The effect of the common c.2299delG mutation in USH2A on RNA splicing.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

PMID 20145675 2010 The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

rs727503715 in USH2A gene and Retinal Dystrophies PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs1003869920 in USH2A gene and Retinitis Pigmentosa PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 15015129 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 25133613 2014 Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

PMID 23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 10775529 2000 Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

rs17026635 in USH2A gene and Serum total cholesterol measurement PMID 21777205 2011 Evidence for age as a modifier of genetic associations for lipid levels.

rs1035024403 in USH2A gene and USHER SYNDROME, TYPE IIA PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 10738000 2000 Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

PMID 15025721 2004 Mutational spectrum in Usher syndrome type II.

PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 21686329 2011 Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 20309401 2010 Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

PMID 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

PMID 18452394 2008 Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

PMID 15241801 2004 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 12112664 2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PMID 17085681 2006 Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

PMID 20440071 2010 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

PMID 14970843 2004 Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

PMID 24516651 2014 Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PMID 27318125 2016 A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

PMID 19788668 2009 An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention.

PMID 24498627 2014 Experience of targeted Usher exome sequencing as a clinical test.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 26927203 2016 Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 15015129 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 25558175 2014 MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 24938718 2014 Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 28005958 2016 Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

PMID 27344577 2016 Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

PMID 27624628 2016 Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 25333064 2014 Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

PMID 27957503 2016 Usher syndrome in Denmark: mutation spectrum and some clinical observations.

PMID 28944237 2017 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.

PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

PMID 18665192 2008 Genomic instability and proliferative activity as risk factors for distant metastases in breast cancer.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 25211151 2014 Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 26496393 2015 Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

PMID 20052763 2010 Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 19737284 2009 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

PMID 25252889 2015 Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

PMID 28761320 2017 Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

PMID 24603341 2014 exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 22563300 2012 A genetic basis for mechanosensory traits in humans.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 28894305 2017 Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 25133613 2014 Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

PMID 25324289 2014 Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

PMID 16098008 2005 Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

PMID 15671307 2005 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

PMID 23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

PMID 27157150 2016 Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.

PMID 27583663 2016 Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 20497194 2011 Functional analysis of splicing mutations in MYO7A and USH2A genes.

PMID 15823922 2005 Novel mutations in MYO7A and USH2A in Usher syndrome.

PMID 24853665 2015 Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

PMID 21738395 2011 Molecular epidemiology of Usher syndrome in Italy.

PMID 22009552 2012 Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

PMID 24607488 2014 The effect of the common c.2299delG mutation in USH2A on RNA splicing.

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PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

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PMID 20052763 2010 Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 30245029 2018 Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 29490346 2018 The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.

PMID 18463160 2008 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

PMID 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

PMID 15015129 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 20440071 2010 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 25910913 2015 High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

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PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

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PMID 25521520 2015 Clinical heterogeneity in a family with mutations in USH2A.

PMID 15241801 2004 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 28944237 2017 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.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 19737284 2009 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

PMID 24853665 2015 Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

PMID 19023448 2008 Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 25133613 2014 Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 25333064 2014 Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

PMID 25558175 2014 MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

PMID 29196752 2017 Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

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PMID 22009552 2012 Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 21738395 2011 Molecular epidemiology of Usher syndrome in Italy.

PMID 16098008 2005 Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 17085681 2006 Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

PMID 14970843 2004 Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

PMID 12427073 2002 Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

PMID 12112664 2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PMID 15025721 2004 Mutational spectrum in Usher syndrome type II.

PMID 11402400 2001 A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.