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

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

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

Modeling Retinal Degeneration Using Patient-Specific Induced Pluripotent Stem Cells

(2011) Zi-Bing Jin et al.   PLoS One

MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS

(2011) Zubin Saihan et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

A New Efficient Protocol for Directed Differentiation of Retinal Pigmented Epithelial Cells from Normal and Retinal Disease Induced Pluripotent Stem Cells

(2011) Azadeh Zahabi et al.   STEM CELLS AND DEVELOPMENT

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

(2010) William J Kimberling et al.   GENETICS IN MEDICINE

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

(2010) Christel Vaché et al.   HUMAN MUTATION

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

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

Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes

(2010) Hiroshi Nakanishi et al.   JOURNAL OF HUMAN GENETICS

Update on Usher syndrome

(2009) Zubin Saihan et al.   CURRENT OPINION IN NEUROLOGY

Generation of retinal cells from mouse and human induced pluripotent stem cells

(2009) Yasuhiko Hirami et al.   NEUROSCIENCE LETTERS

Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy

(2007) David S. Williams   VISION RESEARCH