Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. J Ophthalmol (2015) 0.77

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa. Sci Rep (2016) 0.75

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa. Sci Rep (2016) 0.75

SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics (2009) 39.47

Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29

SolexaQA: At-a-glance quality assessment of Illumina second-generation sequencing data. BMC Bioinformatics (2010) 9.47

Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27

Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Invest Ophthalmol Vis Sci (2008) 2.05

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. J Med Genet (2008) 1.38

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. PLoS One (2013) 1.28

Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study. Eur J Ophthalmol (2006) 1.20

Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. Hum Mol Genet (2005) 1.14

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A (2013) 1.13

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2013) 0.97

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa. Biochem Biophys Res Commun (2010) 0.96

SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat Commun (2014) 0.93

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. J Med Genet (2013) 0.87

Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders. Clin Genet (2010) 0.85