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

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

(2014) Weining Rong et al.   PLoS One

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

(2013) Kaoru Fujinami et al.   OPHTHALMOLOGY

Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation

(2013) Eva Lenassi et al.   OPHTHALMOLOGY

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

(2013) Tao Yang 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

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

(2013) Marta Corton et al.   PLoS One

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

(2013) Xiu-Feng Huang et al.   PLoS One

Experience of targeted Usher exome sequencing as a clinical test

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

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 (sensorineural deafness and retinitis pigmentosa)

(2011) Crystel Bonnet et al.   CURRENT OPINION IN NEUROLOGY

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

(2011) Hiroshi Nakanishi et al.   JOURNAL OF HUMAN 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

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

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

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

(2009) H Nakanishi et al.   CLINICAL GENETICS

Harmonin Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells

(2009) Nicolas Grillet et al.   NEURON

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

(2008) Thomas Rio Frio et al.   JOURNAL OF CLINICAL INVESTIGATION