Published in Hum Genet on October 24, 2013
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy (2016) 7.05
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med (2014) 1.46
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci (2014) 1.20
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Hum Genet (2014) 1.10
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS One (2016) 1.07
Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta (2015) 1.01
PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenet Genomics (2016) 0.96
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Invest Ophthalmol Vis Sci (2015) 0.93
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur J Hum Genet (2015) 0.88
Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet (2015) 0.88
Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy. Expert Rev Mol Diagn (2015) 0.85
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis (2015) 0.85
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2014) 0.84
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Sci Rep (2015) 0.84
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum Mol Genet (2015) 0.84
A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2014) 0.84
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Invest Ophthalmol Vis Sci (2014) 0.83
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. Sci Rep (2016) 0.83
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci (2015) 0.81
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet (2016) 0.81
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat (2016) 0.81
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med (2014) 0.80
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis (2015) 0.79
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Mol Genet Metab Rep (2016) 0.79
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. Mol Vis (2015) 0.78
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet (2014) 0.78
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet (2016) 0.78
Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort. Transl Vis Sci Technol (2016) 0.78
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. Invest Ophthalmol Vis Sci (2017) 0.77
Paradigm Shifts in Ophthalmic Diagnostics. Trans Am Ophthalmol Soc (2016) 0.76
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa. BMC Genomics (2015) 0.76
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis (2016) 0.76
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
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs. Genet Med (2016) 0.76
Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing. BMC Ophthalmol (2016) 0.75
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. Sci Rep (2016) 0.75
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families. Invest Ophthalmol Vis Sci (2017) 0.75
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol (2016) 0.75
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT). Mol Med Rep (2017) 0.75
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. Invest Ophthalmol Vis Sci (2017) 0.75
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. Sci Rep (2017) 0.75
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). Ann N Y Acad Sci (2016) 0.75
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep (2016) 0.75
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa. Mol Vis (2016) 0.75
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. Eur J Hum Genet (2017) 0.75
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis (2017) 0.75
CDHR1 mutations in retinal dystrophies. Sci Rep (2017) 0.75
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Retinitis pigmentosa. Lancet (2006) 13.62
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet (1997) 10.93
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat (2011) 6.97
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet (1997) 6.66
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Retinitis pigmentosa. Orphanet J Rare Dis (2006) 3.31
Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries. Nucleic Acids Res (2010) 3.23
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med (1990) 3.21
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat (2001) 3.07
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
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science (1998) 2.84
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol (2007) 2.77
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell (1995) 2.71
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet (2000) 2.66
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet (1999) 2.42
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet (2004) 2.13
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat (2011) 2.13
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet (2012) 2.09
Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test (2000) 2.01
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
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
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet (2012) 1.80
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci (1997) 1.67
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet (2013) 1.47
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet (2010) 1.36
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.32
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol (2005) 1.27
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Hum Mutat (2011) 1.23
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat (2011) 1.13
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J Hum Genet (1999) 1.13
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol (2012) 1.06
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis (1999) 1.05
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. Hum Genet (1999) 0.99
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). Clin Genet (2009) 0.90
Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. Nephrol Dial Transplant (2006) 0.79
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
The Atlas genome assembly system. Genome Res (2004) 9.78
Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res (2005) 8.38
The genome of the mesopolyploid crop species Brassica rapa. Nat Genet (2011) 8.23
The genome of the cucumber, Cucumis sativus L. Nat Genet (2009) 8.19
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (2009) 7.64
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol (2011) 7.11
Sequence- and target-independent angiogenesis suppression by siRNA via TLR3. Nature (2008) 7.10
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Clinical epidemiology of the global expansion of Klebsiella pneumoniae carbapenemases. Lancet Infect Dis (2013) 6.60
Nova regulates brain-specific splicing to shape the synapse. Nat Genet (2005) 6.58
Tissue-specific expression and regulation of sexually dimorphic genes in mice. Genome Res (2006) 6.45
Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90
Hypoxia-inducible factors regulate tumorigenic capacity of glioma stem cells. Cancer Cell (2009) 5.81
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science (2006) 5.67
Discovery of tissue-specific exons using comprehensive human exon microarrays. Genome Biol (2007) 5.53
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell (2004) 5.04
High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet (2008) 4.86
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Unusual intron conservation near tissue-regulated exons found by splicing microarrays. PLoS Comput Biol (2006) 4.63
TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation. Nat Med (2009) 4.58
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
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
Pten in stromal fibroblasts suppresses mammary epithelial tumours. Nature (2009) 4.21
Targeted genome modification of crop plants using a CRISPR-Cas system. Nat Biotechnol (2013) 4.19
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Direct reprogramming of mouse fibroblasts to neural progenitors. Proc Natl Acad Sci U S A (2011) 3.93
Seven-year outcomes in ranibizumab-treated patients in ANCHOR, MARINA, and HORIZON: a multicenter cohort study (SEVEN-UP). Ophthalmology (2013) 3.92
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
The genetic legacy of the Mongols. Am J Hum Genet (2003) 3.84
Reprogramming of human primary somatic cells by OCT4 and chemical compounds. Cell Stem Cell (2010) 3.82
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Robo4 stabilizes the vascular network by inhibiting pathologic angiogenesis and endothelial hyperpermeability. Nat Med (2008) 3.67
Regulation of hypoxia-inducible factor 2alpha signaling by the stress-responsive deacetylase sirtuin 1. Science (2009) 3.64
Molecular phenotyping of human ovarian cancer stem cells unravels the mechanisms for repair and chemoresistance. Cell Cycle (2009) 3.60
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci Transl Med (2012) 3.53
Genetic and genomic analysis of a fat mass trait with complex inheritance reveals marked sex specificity. PLoS Genet (2006) 3.51
Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. Nat Neurosci (2010) 3.41
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med (2010) 3.31
Drusen complement components C3a and C5a promote choroidal neovascularization. Proc Natl Acad Sci U S A (2006) 3.25
TLR-4 signaling promotes tumor growth and paclitaxel chemoresistance in ovarian cancer. Cancer Res (2006) 3.21
Reciprocal modulation of Toll-like receptor-4 signaling pathways involving MyD88 and phosphatidylinositol 3-kinase/AKT by saturated and polyunsaturated fatty acids. J Biol Chem (2003) 3.20
Sustained axon regeneration induced by co-deletion of PTEN and SOCS3. Nature (2011) 3.18
Human genomic deletions mediated by recombination between Alu elements. Am J Hum Genet (2006) 3.15
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
Ranibizumab for predominantly classic neovascular age-related macular degeneration: subgroup analysis of first-year ANCHOR results. Am J Ophthalmol (2007) 3.00
optix drives the repeated convergent evolution of butterfly wing pattern mimicry. Science (2011) 2.99
Analysis of the human endogenous coregulator complexome. Cell (2011) 2.97
Targeting cancer stem cells through L1CAM suppresses glioma growth. Cancer Res (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
Earliest domestication of common millet (Panicum miliaceum) in East Asia extended to 10,000 years ago. Proc Natl Acad Sci U S A (2009) 2.90
Epstein-Barr virus latent membrane protein 1 induces cellular MicroRNA miR-146a, a modulator of lymphocyte signaling pathways. J Virol (2007) 2.88
The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis. Am J Epidemiol (2012) 2.87
Genome-wide RNAi screen reveals a specific sensitivity of IRES-containing RNA viruses to host translation inhibition. Genes Dev (2005) 2.83
A new family of potent AB(5) cytotoxins produced by Shiga toxigenic Escherichia coli. J Exp Med (2004) 2.81
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet (2003) 2.77
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
RXLR-mediated entry of Phytophthora sojae effector Avr1b into soybean cells does not require pathogen-encoded machinery. Plant Cell (2008) 2.72
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Effective gene therapy with nonintegrating lentiviral vectors. Nat Med (2006) 2.70
Changing trends in antimicrobial resistance and serotypes of Streptococcus pneumoniae isolates in Asian countries: an Asian Network for Surveillance of Resistant Pathogens (ANSORP) study. Antimicrob Agents Chemother (2012) 2.65
Community-based interventions to promote blood pressure control in a developing country: a cluster randomized trial. Ann Intern Med (2009) 2.64
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression. Cell Stem Cell (2012) 2.61
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis (2005) 2.55
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
A Drosophila resource of transgenic RNAi lines for neurogenetics. Genetics (2009) 2.45
MicroRNA-155 is an Epstein-Barr virus-induced gene that modulates Epstein-Barr virus-regulated gene expression pathways. J Virol (2008) 2.45
Cell-specific aptamer probes for membrane protein elucidation in cancer cells. J Proteome Res (2008) 2.44
B-cell receptor activation induces BIC/miR-155 expression through a conserved AP-1 element. J Biol Chem (2007) 2.44
Direct conversion of fibroblasts to neurons by reprogramming PTB-regulated microRNA circuits. Cell (2013) 2.43
Increased CCR5 affinity and reduced CCR5/CD4 dependence of a neurovirulent primary human immunodeficiency virus type 1 isolate. J Virol (2002) 2.43
c-Myc is required for maintenance of glioma cancer stem cells. PLoS One (2008) 2.41
Antiretroviral therapy to prevent HIV transmission in serodiscordant couples in China (2003-11): a national observational cohort study. Lancet (2012) 2.41