Associated Papers
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
Khorram E et al.
Audiology & Neuro-otology, 2023
Assessing the digenic model in rare disorders using population sequencing data.
Moreno-Ruiz N et al.
European Journal of Human Genetics : Ejhg, 2022
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.
Journal of Medical Genetics, 2012
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
Licastro D et al.
Plos One, 2012
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Molecular epidemiology of Usher syndrome in Italy.
Vozzi D et al.
Molecular Vision, 2011
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P et al.
Bmc Biotechnology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Ahmed ZM et al.
Human Genetics, 2008
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
Becirovic E et al.
Human Mutation, 2008
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.
Ahmed ZM et al.
Molecular Vision, 2008
Development of a genotyping microarray for Usher syndrome.
Cremers FP et al.
Journal of Medical Genetics, 2007
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
Zheng QY et al.
Human Molecular Genetics, 2005
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto LM et al.
American Journal of Human Genetics, 2002