Targeted next generation sequencing for molecular diagnosis of Usher syndrome

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

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

(2014) Hidekane Yoshimura et al.   PLoS One

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

(2014) Weining Rong et al.   PLoS One

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

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Usher protein functions in hair cells and photoreceptors

(2013) Dominic Cosgrove et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

(2013) Hideki Mutai et al.   Orphanet Journal of Rare Diseases

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

(2013) Heather B Steele-Stallard et al.   Orphanet Journal of Rare Diseases

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

(2013) Byung Yoon Choi et al.   PLoS One

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

(2013) Tobias Eisenberger et al.   PLoS One

Characterizing and measuring bias in sequence data

(2013) Michael G Ross et al.   GENOME BIOLOGY

Experience of targeted Usher exome sequencing as a clinical test

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

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

(2012) Iman Sahly et al.   JOURNAL OF CELL BIOLOGY

Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network

(2012) M. Grati et al.   JOURNAL OF NEUROSCIENCE

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

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

(2012) Danilo Licastro 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

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

(2011) J. M. Schultz et al.   JOURNAL OF MEDICAL GENETICS

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

An Update on the Genetics of Usher Syndrome

(2010) José M. Millán et al.   Journal of Ophthalmology

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

(2009) ZM Ahmed et al.   CLINICAL GENETICS

Tip links in hair cells: molecular composition and role in hearing loss

(2009) Hirofumi Sakaguchi et al.   Current Opinion in Otolaryngology & Head and Neck Surgery

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells

(2009) Amel Bahloul et al.   EMBO Molecular Medicine

Cadherins as Targets for Genetic Diseases

(2009) A. El-Amraoui et al.   Cold Spring Harbor Perspectives in Biology

Cadherins and mechanotransduction by hair cells

(2008) Ulrich Müller   CURRENT OPINION IN CELL BIOLOGY

Mutation spectrum ofMYO7Aand evaluation of a novel nonsyndromic deafnessDFNB2allele with residual function

(2008) Saima Riazuddin et al.   HUMAN MUTATION

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

(2008) A. Oshima et al.   HUMAN MUTATION