Published in Nucleic Acids Res on March 01, 2003
In control: systematic assessment of microarray performance. EMBO Rep (2004) 1.55
Comparative evaluation of linear and exponential amplification techniques for expression profiling at the single-cell level. Genome Biol (2006) 1.37
Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling. BMC Genomics (2005) 1.23
Microarrays and breast cancer clinical studies: forgetting what we have not yet learnt. Breast Cancer Res (2005) 1.10
Effective transcriptome amplification for expression profiling on sense-oriented oligonucleotide microarrays. Nucleic Acids Res (2005) 1.09
Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs. Nucleic Acids Res (2004) 1.08
Electrostatic readout of DNA microarrays with charged microspheres. Nat Biotechnol (2008) 1.07
Using a microfluidic device for 1 microl DNA microarray hybridization in 500 s. Nucleic Acids Res (2005) 1.01
Expression microarray reproducibility is improved by optimising purification steps in RNA amplification and labelling. BMC Genomics (2004) 1.01
Triple-target microarray experiments: a novel experimental strategy. BMC Genomics (2004) 0.97
Microarray segmentation methods significantly influence data precision. Nucleic Acids Res (2004) 0.95
Gene expression variation between mouse inbred strains. BMC Genomics (2004) 0.91
Overview of electrochemical DNA biosensors: new approaches to detect the expression of life. Sensors (Basel) (2009) 0.86
Multiplexed method to calibrate and quantitate fluorescence signal for allergen-specific IgE. Anal Chem (2011) 0.85
Optimization of oligonucleotide microarray fabricated by spotting 65-mer. Anal Biochem (2007) 0.84
Chronic activation of the epithelial immune system of the fruit fly's salivary glands has a negative effect on organismal growth and induces a peculiar set of target genes. BMC Genomics (2010) 0.83
Expression of podocalyxin separates the hematopoietic and vascular potentials of mouse embryonic stem cell-derived mesoderm. Stem Cells (2014) 0.83
Reduced stability and intracellular transport of dsRNA contribute to poor RNAi response in lepidopteran insects. RNA Biol (2016) 0.82
A transposon site hybridization screen identifies galU and wecBC as important for survival of Yersinia pestis in murine macrophages. J Bacteriol (2011) 0.82
Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiation. PLoS One (2010) 0.82
Exploiting the full power of temporal gene expression profiling through a new statistical test: application to the analysis of muscular dystrophy data. BMC Bioinformatics (2006) 0.80
Detection of NASBA amplified bacterial tmRNA molecules on SLICSel designed microarray probes. BMC Biotechnol (2011) 0.78
Fluorescent labeling of NASBA amplified tmRNA molecules for microarray applications. BMC Biotechnol (2009) 0.77
Use of cDNA tiling arrays for identifying protein interactions selected by in vitro display technologies. PLoS One (2008) 0.75
Influence of RNA labeling on expression profiling of microRNAs. J Mol Diagn (2011) 0.75
Efficient enzymatic synthesis and dual-colour fluorescent labelling of DNA probes using long chain azido-dUTP and BCN dyes. Nucleic Acids Res (2016) 0.75
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Expression profiling using microarrays fabricated by an ink-jet oligonucleotide synthesizer. Nat Biotechnol (2001) 14.57
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Gene expression during the life cycle of Drosophila melanogaster. Science (2002) 11.36
Amplified RNA synthesized from limited quantities of heterogeneous cDNA. Proc Natl Acad Sci U S A (1990) 11.10
Experimental annotation of the human genome using microarray technology. Nature (2001) 10.39
Quantitative analysis of mRNA amplification by in vitro transcription. Nucleic Acids Res (2001) 9.62
High-fidelity mRNA amplification for gene profiling. Nat Biotechnol (2000) 6.97
Assessment of the sensitivity and specificity of oligonucleotide (50mer) microarrays. Nucleic Acids Res (2000) 6.20
Microarray fabrication with covalent attachment of DNA using bubble jet technology. Nat Biotechnol (2000) 3.38
Optimization of oligonucleotide-based DNA microarrays. Nucleic Acids Res (2002) 3.36
Representation is faithfully preserved in global cDNA amplified exponentially from sub-picogram quantities of mRNA. Nat Biotechnol (2002) 3.26
Anomalous fluorescence enhancement of Cy3 and cy3.5 versus anomalous fluorescence loss of Cy5 and Cy7 upon covalent linking to IgG and noncovalent binding to avidin. Bioconjug Chem (2000) 1.56
Amine-modified random primers to label probes for DNA microarrays. Nat Biotechnol (2002) 1.54
A common reference for cDNA microarray hybridizations. Nucleic Acids Res (2002) 1.35
Comparison of fluorescent tag DNA labeling methods used for expression analysis by DNA microarrays. Biotechniques (2002) 1.30
Gene expression microarrays and the integration of biological knowledge. Trends Biotechnol (2001) 1.16
Evaluation and optimization of procedures for target labeling and hybridization of cDNA microarrays. Mol Vis (2002) 1.15
A global test for groups of genes: testing association with a clinical outcome. Bioinformatics (2004) 10.82
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res (2008) 10.10
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat (2009) 2.59
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord (2011) 2.47
The value of data. Nat Genet (2011) 2.40
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension (2006) 2.39
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
FcgammaRI (CD64) contributes substantially to severity of arthritis, hypersensitivity responses, and protection from bacterial infection. Immunity (2002) 2.31
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet (2003) 2.17
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology (2009) 2.04
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Standardizing mutation nomenclature: why bother? Hum Mutat (2003) 1.80
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord (2002) 1.72
Comparative analysis of colonic gene expression of three experimental colitis models mimicking inflammatory bowel disease. Inflamm Bowel Dis (2007) 1.70
Glutathione peroxidase 2 and aquaporin 8 as new markers for colonic inflammation in experimental colitis and inflammatory bowel diseases: an important role for H2O2? Eur J Gastroenterol Hepatol (2008) 1.63
Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat (2011) 1.62
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell (2010) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem (2012) 1.52
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet (2003) 1.52
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther (2004) 1.46
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Gene expression profiling of paraffin-embedded primary melanoma using the DASL assay identifies increased osteopontin expression as predictive of reduced relapse-free survival. Clin Cancer Res (2009) 1.40
New methods for next generation sequencing based microRNA expression profiling. BMC Genomics (2010) 1.38
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther (2006) 1.38
Phage display screening without repetitious selection rounds. Anal Biochem (2011) 1.36
Can subtle changes in gene expression be consistently detected with different microarray platforms? BMC Genomics (2008) 1.36
A common reference for cDNA microarray hybridizations. Nucleic Acids Res (2002) 1.35
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Bone morphogenetic protein 4 expressed in esophagitis induces a columnar phenotype in esophageal squamous cells. Gastroenterology (2007) 1.34
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes. BMC Bioinformatics (2008) 1.31
Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J (2005) 1.31
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey. BMC Genomics (2009) 1.31
Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet (2005) 1.30
Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat (2011) 1.30
Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome. BMC Genomics (2009) 1.29
Leiden Open Variation Database of the MUTYH gene. Hum Mutat (2010) 1.28
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
Genome-wide assessment of differential roles for p300 and CBP in transcription regulation. Nucleic Acids Res (2010) 1.25
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet (2011) 1.24
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation. Nucleic Acids Res (2012) 1.23
Relative power and sample size analysis on gene expression profiling data. BMC Genomics (2009) 1.21
Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization. Transfusion (2005) 1.18
Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA. BMC Genomics (2012) 1.18
The effects of low levels of dystrophin on mouse muscle function and pathology. PLoS One (2012) 1.16
Guidelines for establishing locus specific databases. Hum Mutat (2011) 1.16
Novel protein-protein interactions inferred from literature context. PLoS One (2009) 1.13
Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies. Nucleic Acids Res (2010) 1.13
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (2008) 1.12
Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods Cell Biol (2004) 1.12
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency. PLoS Genet (2013) 1.10
Patterns of expression of DNA repair genes and relapse from melanoma. Clin Cancer Res (2010) 1.09
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat (2011) 1.08
Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A (2007) 1.08
Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation. Biochim Biophys Acta (2006) 1.08
Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs. Nucleic Acids Res (2004) 1.08
Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One (2011) 1.08
Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem (2007) 1.07
GENETICS. The Human Variome Project. Science (2008) 1.07
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet (2010) 1.04
A study of the SORL1 gene in Alzheimer's disease and cognitive function. J Alzheimers Dis (2009) 1.02
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest (2010) 1.01
Expression profiling in stably regenerating skeletal muscle of dystrophin-deficient mdx mice. Neuromuscul Disord (2002) 1.01
Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy. Proteomics (2008) 1.00
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Hum Mutat (2012) 0.99
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat (2010) 0.99
Large-scale gene expression analysis of human skeletal myoblast differentiation. Neuromuscul Disord (2004) 0.98
Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing. Anal Bioanal Chem (2014) 0.97
Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing. Mol Ecol Resour (2014) 0.97
Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet (2002) 0.97
Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data. Nucleic Acids Res (2008) 0.96
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat (2011) 0.96
Literature-aided interpretation of gene expression data with the weighted global test. Brief Bioinform (2010) 0.96
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol (2007) 0.95
Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease. BMC Mol Biol (2008) 0.95
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet (2015) 0.94
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. BMC Bioinformatics (2011) 0.94
Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs. Gene Expr Patterns (2004) 0.93