Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

(2013) Li Huang et al.   PLoS One

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

(2012) Wayne I.L. Davies et al.   GENETICS IN MEDICINE

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy

(2011) Xueshan Xiao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Molecular recruitment as a basis for negative dominant inheritance? Propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa

(2011) Xiao-tao Wang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

(2011) Alessandro Galan et al.   CURRENT GENOMICS

Retinitis Pigmentosa: Genes and Disease Mechanisms

(2011) Francesco Parmeggiani et al.   CURRENT GENOMICS

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

(2011) Goranka Tanackovic et al.   HUMAN MOLECULAR GENETICS

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

(2011) Paola Benaglio 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

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

(2010) Jessica C. Gardner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa

(2010) Shiqiang Li et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2010) J. GRøNDAHL   CLINICAL GENETICS

EYS is a major gene for rod-cone dystrophies in France

(2010) Isabelle Audo et al.   HUMAN MUTATION

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Analysis of Disease-Linked Rhodopsin Mutations Based on Structure, Function, and Protein Stability Calculations

(2010) Elizabeth P. Rakoczy et al.   JOURNAL OF MOLECULAR BIOLOGY

The molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

(2009) Hui Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Molecular Screening ofRhodopsinandPeripherin/RDSGenes in Mexican Families with Autosomal Dominant Retinitis Pigmentosa

(2009) Margarita Matias-Florentino et al.   CURRENT EYE RESEARCH

Mutations inRPGRandRP2of Chinese Patients with X-Linked Retinitis Pigmentosa

(2009) Yanli Ji et al.   CURRENT EYE RESEARCH

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

(2008) Stefania Stenirri et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: Impact of single point mutations related to retina degenerative diseases

(2008) Leonardo Mokarzel-Falcón et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS