Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

Non-syndromic retinitis pigmentosa

(2018) Sanne K. Verbakel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV

(2017) Xueling Wang et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

(2016) Bas P. Hartel et al.   HEARING RESEARCH

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

(2016) Marta Corton et al.   PLoS One

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

(2015) Eva Lenassi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical Aspects of Usher Syndrome and theUSH2AGene in a Cohort of 433 Patients

(2015) Fiona Blanco-Kelly et al.   JAMA Ophthalmology

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

(2014) Xue Chen et al.   PLoS One

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

Usher Syndrome

(2013) Kris R. Jatana et al.   OTOLOGY & NEUROTOLOGY

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

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

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations

(2010) Thomas Rosenberg et al.   CLINICAL GENETICS

Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

(2010) J. GRøNDAHL   CLINICAL GENETICS

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

(2008) Bo Dreyer et al.   HUMAN MUTATION