Published in PLoS One on December 02, 2011
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
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One (2014) 1.44
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Mol Vis (2013) 1.02
A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. Nucleic Acids Res (2014) 0.97
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One (2014) 0.90
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep (2016) 0.79
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
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis (2016) 0.76
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa. BMC Genomics (2015) 0.76
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. Sci Rep (2017) 0.75
Identifying mutations in Tunisian families with retinal dystrophy. Sci Rep (2016) 0.75
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. PLoS One (2015) 0.75
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes (Basel) (2017) 0.75
Retinitis pigmentosa. Lancet (2006) 13.62
Improved splice site detection in Genie. J Comput Biol (1997) 11.57
Clinical assessment incorporating a personal genome. Lancet (2010) 10.18
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Resequencing and mutational analysis using oligonucleotide microarrays. Nat Genet (1999) 3.95
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet (2000) 3.72
Retinitis pigmentosa. Orphanet J Rare Dis (2006) 3.31
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet (2010) 3.20
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res (2006) 3.04
Challenges in the clinical application of whole-genome sequencing. Lancet (2010) 2.92
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet (2008) 2.46
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet (2008) 1.84
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol (2010) 1.45
Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. Nucleic Acids Res (2007) 1.43
EYS is a major gene for rod-cone dystrophies in France. Hum Mutat (2010) 1.39
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet (2010) 1.36
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology (2006) 1.35
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Invest Ophthalmol Vis Sci (2007) 1.31
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat (2010) 1.26
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2010) 1.24
Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays. Nucleic Acids Res (2005) 1.20
New developments in high-throughput resequencing and variation detection using high density microarrays. Hum Mutat (2002) 1.19
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci (2005) 1.18
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Ophthalmology (2010) 1.15
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci (2010) 1.15
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology (2010) 1.14
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med (2008) 1.08
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol (2008) 1.06
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2008) 1.05
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genet (2001) 1.03
Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci (2011) 1.01
Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat (2010) 0.98
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. Ophthalmology (2011) 0.95
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Hum Mol Genet (1994) 0.90
FatiGO: a web tool for finding significant associations of Gene Ontology terms with groups of genes. Bioinformatics (2004) 26.64
High-throughput functional annotation and data mining with the Blast2GO suite. Nucleic Acids Res (2008) 13.51
Differential expression in RNA-seq: a matter of depth. Genome Res (2011) 7.13
GEPAS: A web-based resource for microarray gene expression data analysis. Nucleic Acids Res (2003) 4.82
BABELOMICS: a suite of web tools for functional annotation and analysis of groups of genes in high-throughput experiments. Nucleic Acids Res (2005) 4.72
ETE: a python Environment for Tree Exploration. BMC Bioinformatics (2010) 4.17
The human phylome. Genome Biol (2007) 3.81
FatiGO +: a functional profiling tool for genomic data. Integration of functional annotation, regulatory motifs and interaction data with microarray experiments. Nucleic Acids Res (2007) 3.68
BABELOMICS: a systems biology perspective in the functional annotation of genome-scale experiments. Nucleic Acids Res (2006) 3.62
Qualimap: evaluating next-generation sequencing alignment data. Bioinformatics (2012) 3.62
Babelomics: an integrative platform for the analysis of transcriptomics, proteomics and genomic data with advanced functional profiling. Nucleic Acids Res (2010) 3.36
PhylomeDB: a database for genome-wide collections of gene phylogenies. Nucleic Acids Res (2007) 3.30
Phylemon: a suite of web tools for molecular evolution, phylogenetics and phylogenomics. Nucleic Acids Res (2007) 3.09
From genes to functional classes in the study of biological systems. BMC Bioinformatics (2007) 3.09
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res (2006) 3.04
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet (2008) 2.46
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
Next station in microarray data analysis: GEPAS. Nucleic Acids Res (2006) 2.05
GEPAS, an experiment-oriented pipeline for the analysis of microarray gene expression data. Nucleic Acids Res (2005) 1.97
Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome. PLoS Comput Biol (2006) 1.95
New challenges in gene expression data analysis and the extended GEPAS. Nucleic Acids Res (2004) 1.89
GEPAS, a web-based tool for microarray data analysis and interpretation. Nucleic Acids Res (2008) 1.89
Discovering molecular functions significantly related to phenotypes by combining gene expression data and biological information. Bioinformatics (2005) 1.82
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
Analysis of chronic lymphotic leukemia transcriptomic profile: differences between molecular subgroups. Leuk Lymphoma (2009) 1.58
Systematic learning of gene functional classes from DNA array expression data by using multilayer perceptrons. Genome Res (2002) 1.55
B2G-FAR, a species-centered GO annotation repository. Bioinformatics (2011) 1.53
Phylemon 2.0: a suite of web-tools for molecular evolution, phylogenetics, phylogenomics and hypotheses testing. Nucleic Acids Res (2011) 1.53
Babelomics: advanced functional profiling of transcriptomics, proteomics and genomics experiments. Nucleic Acids Res (2008) 1.53
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease. Hum Mutat (2014) 1.46
Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat (2005) 1.45
DNMAD: web-based diagnosis and normalization for microarray data. Bioinformatics (2004) 1.45
DNA methylation epigenotypes in breast cancer molecular subtypes. Breast Cancer Res (2010) 1.44
Genome-scale evidence of the nematode-arthropod clade. Genome Biol (2005) 1.41
Paintomics: a web based tool for the joint visualization of transcriptomics and metabolomics data. Bioinformatics (2010) 1.41
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2003) 1.40
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci (2009) 1.33
Genome Maps, a new generation genome browser. Nucleic Acids Res (2013) 1.33
The AnnoLite and AnnoLyze programs for comparative annotation of protein structures. BMC Bioinformatics (2007) 1.33
Combining hierarchical clustering and self-organizing maps for exploratory analysis of gene expression patterns. J Proteome Res (2003) 1.32
ISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling. Nucleic Acids Res (2007) 1.29
ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res (2006) 1.29
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat (2010) 1.26
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2010) 1.24
Prophet, a web-based tool for class prediction using microarray data. Bioinformatics (2006) 1.23
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res (2012) 1.22
Multidimensional gene set analysis of genomic data. PLoS One (2010) 1.21
DBAli tools: mining the protein structure space. Nucleic Acids Res (2007) 1.19
Fine-scale evolution: genomic, phenotypic and ecological differentiation in two coexisting Salinibacter ruber strains. ISME J (2010) 1.17
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet (2008) 1.17
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. Dev Biol (2013) 1.15
Evidence for short-time divergence and long-time conservation of tissue-specific expression after gene duplication. Brief Bioinform (2011) 1.15
Controlled ovarian stimulation induces a functional genomic delay of the endometrium with potential clinical implications. J Clin Endocrinol Metab (2008) 1.13
Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Biol (2006) 1.13
Bioinformatics methods for the analysis of expression arrays: data clustering and information extraction. J Biotechnol (2002) 1.13
Hypoxia promotes efficient differentiation of human embryonic stem cells to functional endothelium. Stem Cells (2010) 1.11
Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans. Hum Mutat (2008) 1.11
Functional profiling of microarray experiments using text-mining derived bioentities. Bioinformatics (2007) 1.11
Functional genomics of 5- to 8-cell stage human embryos by blastomere single-cell cDNA analysis. PLoS One (2010) 1.10
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet (2002) 1.09
Profiling the venom gland transcriptomes of Costa Rican snakes by 454 pyrosequencing. BMC Genomics (2011) 1.09
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. Invest Ophthalmol Vis Sci (2007) 1.08
PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes. Nucleic Acids Res (2005) 1.08
IL1β induces mesenchymal stem cells migration and leucocyte chemotaxis through NF-κB. Stem Cell Rev (2012) 1.07
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med (2010) 1.05
Gene set internal coherence in the context of functional profiling. BMC Genomics (2009) 1.04
Early transcriptional defense responses in Arabidopsis cell suspension culture under high-light conditions. Plant Physiol (2011) 1.03
Phylogenomics and the number of characters required for obtaining an accurate phylogeny of eukaryote model species. Bioinformatics (2004) 1.02
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Mol Vis (2013) 1.02
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat (2014) 1.01
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab (2013) 1.01
Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma. Cancer Res (2007) 1.01
Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci (2011) 1.01
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. Genet Med (2006) 1.01
Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa. Ophthalmic Res (2005) 1.01
Evidence for systems-level molecular mechanisms of tumorigenesis. BMC Genomics (2007) 1.00
Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta (2013) 0.99
Substrate-level phosphorylation is the primary source of energy conservation during anaerobic respiration of Shewanella oneidensis strain MR-1. J Bacteriol (2010) 0.99
NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease. J Pediatr Surg (2008) 0.99