High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree

(2018) Daniz Kooshavar et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family

(2018) Daiki Kubota et al.   OPHTHALMIC GENETICS

Comparison of error correction algorithms for Ion Torrent PGM data: application to hepatitis B virus

(2017) Liting Song et al.   Scientific Reports

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

(2017) Chiara M. Eandi et al.   Scientific Reports

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

(2017) D. Baux et al.   Scientific Reports

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

(2017) Christine Neuhaus et al.   Molecular Genetics & Genomic Medicine

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

(2016) Crystel Bonnet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

(2015) Pranav Mathur et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Nonsyndromic Hearing Loss Caused by USH1G Mutations

(2015) Anne Marthe Maria Oonk et al.   EAR AND HEARING

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

(2015) Alessandro Liquori et al.   HUMAN MUTATION

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

(2015) Lichun Jiang et al.   Orphanet Journal of Rare Diseases

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

(2014) David Baux et al.   HUMAN MUTATION

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

(2014) Samer Khateb et al.   JOURNAL OF MEDICAL GENETICS

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology

(2014) Ling-Hui Qu et al.   MOLECULAR GENETICS AND GENOMICS

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

(2014) María J Aparisi et al.   Orphanet Journal of Rare Diseases

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

(2013) María José Aparisi et al.   PLoS One

Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data

(2013) Lauren M. Bragg et al.   PLoS Computational Biology

Experience of targeted Usher exome sequencing as a clinical test

(2013) Thomas Besnard et al.   Molecular Genetics & Genomic Medicine

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

(2012) Saima Riazuddin et al.   NATURE GENETICS

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

(2011) Christel Vaché et al.   HUMAN MUTATION

Non-USH2A mutations in USH2 patients

(2011) Thomas Besnard et al.   HUMAN MUTATION

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

(2011) Polona Le Quesne Stabej et al.   JOURNAL OF MEDICAL GENETICS

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

(2011) Crystel Bonnet et al.   Orphanet Journal of Rare Diseases

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

(2011) Gema Garcia-Garcia et al.   Orphanet Journal of Rare Diseases

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Identification of 11 novel mutations inUSH2Aamong Japanese patients with Usher syndrome type 2

(2009) H Nakanishi et al.   CLINICAL GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

(2008) Bo Dreyer et al.   HUMAN MUTATION

Mutation profile of theCDH23 gene in 56 probands with Usher syndrome type I

(2008) A. Oshima et al.   HUMAN MUTATION