Published in Adv Exp Med Biol on January 01, 2010
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. Genome Biol (2011) 5.11
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics (2011) 1.85
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet (2013) 1.83
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.60
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51
Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med (2010) 1.21
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa. Mol Vis (2012) 1.01
Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Invest Ophthalmol Vis Sci (2012) 0.94
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn (2012) 0.94
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol (2014) 0.93
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. Mol Vis (2012) 0.87
Targeted resequencing of GWAS loci reveals novel genetic variants for milk production traits. BMC Genomics (2014) 0.80
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr (2015) 0.79
Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing. Biomed Res Int (2015) 0.76
Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene. Int J Ophthalmol (2014) 0.75
Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa. Sci Rep (2016) 0.75
DNA methylation landscape of ocular tissue relative to matched peripheral blood. Sci Rep (2017) 0.75
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech (2017) 0.75
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
Amino acid difference formula to help explain protein evolution. Science (1974) 15.19
Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol (2007) 2.77
Characterization and prediction of alternative splice sites. Gene (2005) 2.28
First pass annotation of promoters on human chromosome 22. Genome Res (2001) 1.99
Dragon Promoter Finder: recognition of vertebrate RNA polymerase II promoters. Bioinformatics (2002) 1.85
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis (2007) 1.41
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest Ophthalmol Vis Sci (2006) 1.41
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. Mol Vis (2008) 1.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) 19.68
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (2009) 16.04
The Atlas genome assembly system. Genome Res (2004) 9.78
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res (2005) 8.38
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
A catalog of reference genomes from the human microbiome. Science (2010) 8.10
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (2009) 7.64
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nat Biotechnol (2011) 7.53
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
The genome of the model beetle and pest Tribolium castaneum. Nature (2008) 6.50
28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res (2007) 6.42
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41
Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM). Bioinformatics (2011) 6.20
Enteric defensins are essential regulators of intestinal microbial ecology. Nat Immunol (2009) 6.10
A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res (2009) 4.78
Genomic variation landscape of the human gut microbiome. Nature (2012) 4.38
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27
Creating a honey bee consensus gene set. Genome Biol (2007) 4.17
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90
Comparative and demographic analysis of orang-utan genomes. Nature (2011) 3.83
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Comparison of the respiratory microbiome in healthy nonsmokers and smokers. Am J Respir Crit Care Med (2013) 3.65
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
Propionibacterium acnes strain populations in the human skin microbiome associated with acne. J Invest Dermatol (2013) 3.32
E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med (2010) 3.31
Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus. BMC Microbiol (2007) 3.25
Genetic basis for in vivo daptomycin resistance in enterococci. N Engl J Med (2011) 3.20
Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography. Invest Ophthalmol Vis Sci (2008) 3.14
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse. J Bacteriol (2008) 2.97
Management of autoimmune retinopathies with immunosuppression. Arch Ophthalmol (2009) 2.97
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet (2003) 2.77
Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF. Genome Biol (2008) 2.71
Effective gene therapy with nonintegrating lentiviral vectors. Nat Med (2006) 2.70
Comparison of the genome of the oral pathogen Treponema denticola with other spirochete genomes. Proc Natl Acad Sci U S A (2004) 2.60
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis (2005) 2.55
Pervasive genetic hitchhiking and clonal interference in forty evolving yeast populations. Nature (2013) 2.53
Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. J Bacteriol (2004) 2.44
Phylogenomic analysis reveals bees and wasps (Hymenoptera) at the base of the radiation of Holometabolous insects. Genome Res (2006) 2.42
Novel bacterial taxa in the human microbiome. PLoS One (2012) 2.35
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet (2002) 2.29
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest (2008) 2.24
The genome sequence of the leaf-cutter ant Atta cephalotes reveals insights into its obligate symbiotic lifestyle. PLoS Genet (2011) 2.16
The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci (2006) 2.10
Optimizing read mapping to reference genomes to determine composition and species prevalence in microbial communities. PLoS One (2012) 2.09
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci (2006) 2.05
Characteristic male urine microbiomes associate with asymptomatic sexually transmitted infection. PLoS One (2010) 2.02
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.96
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci (2006) 1.93
Community annotation: procedures, protocols, and supporting tools. Genome Res (2006) 1.91
Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies. Am J Ophthalmol (2005) 1.89
Birdshot chorioretinopathy. Surv Ophthalmol (2005) 1.87
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology (2013) 1.85
Clinical isolates of Enterococcus faecium exhibit strain-specific collagen binding mediated by Acm, a new member of the MSCRAMM family. Mol Microbiol (2003) 1.85
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
The need for standardization of antiretinal antibody detection and measurement. Am J Ophthalmol (2008) 1.83
Bos taurus genome assembly. BMC Genomics (2009) 1.83
Inflammatory bowel diseases phenotype, C. difficile and NOD2 genotype are associated with shifts in human ileum associated microbial composition. PLoS One (2012) 1.82
Genome sequencing reveals widespread virulence gene exchange among human Neisseria species. PLoS One (2010) 1.81
A comparison of visual field sensitivity to photoreceptor thickness in retinitis pigmentosa. Invest Ophthalmol Vis Sci (2010) 1.79
An Enterococcus faecalis ABC homologue (Lsa) is required for the resistance of this species to clindamycin and quinupristin-dalfopristin. Antimicrob Agents Chemother (2002) 1.79
Chromosome rearrangement and diversification of Francisella tularensis revealed by the type B (OSU18) genome sequence. J Bacteriol (2006) 1.75
CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat (2004) 1.75
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet (2009) 1.73
The transition zone between healthy and diseased retina in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci (2011) 1.73
Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032. PLoS One (2007) 1.71
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci (2004) 1.68
Widespread colonization of the lung by Tropheryma whipplei in HIV infection. Am J Respir Crit Care Med (2013) 1.66