A microarray configuration to quantify expression levels and relative abundance of splice variants

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

The Sequence of the Human Genome

2001 • 13,500 citations

Finishing the euchromatic sequence of the human genome

2004 • 4,741 citations

Listening to silence and understanding nonsense: exonic mutations that affect splicing

2002 • 2,143 citations

Human Gene Mutation Database (HGMD^®): 2003 update

2003 • 1,737 citations

Genome-Wide Survey of Human Alternative Pre-mRNA Splicing with Exon Junction Microarrays

2003 • 1,406 citations

A genomic view of alternative splicing

2002 • 1,307 citations

Pre-mRNA splicing and human disease

2003 • 1,242 citations

Predictive Identification of Exonic Splicing Enhancers in Human Genes

2002 • 1,035 citations

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

2002 • 955 citations

Large-Scale Transcriptional Activity in Chromosomes 21 and 22

2002 • 839 citations

Using the transcriptome to annotate the genome

2002 • 637 citations

Novel RNAs Identified From an In-Depth Analysis of the Transcriptome of Human Chromosomes 21 and 22

2004 • 529 citations

Alternative splicing in disease and therapy

2004 • 521 citations

Experimental annotation of the human genome using microarray technology

2001 • 446 citations

Genomewide Analysis of mRNA Processing in Yeast Using Splicing-Specific Microarrays

2002 • 406 citations

Opposite effects of the p52shc/p46shc and p66shc splicing isoforms on the EGF receptor-MAP kinase-fos signalling pathway

1997 • 390 citations

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

2003 • 380 citations

Correction of disease-associated exon skipping by synthetic exon-specific activators

2003 • 296 citations

The transcriptional activity of human Chromosome 22

2003 • 293 citations

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

2003 • 292 citations

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulatesSMN2gene expression in patient fibroblasts

2003 • 265 citations

Finding signals that regulate alternative splicing in the post-genomic era.

2002 • 214 citations

Profiling alternative splicing on fiber-optic arrays

2002 • 211 citations

ASD: the Alternative Splicing Database

2003 • 207 citations

Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule‐binding repeat domains as demonstrated by new specific monoclonal antibodies

2003 • 204 citations

Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-Δ11b

1997 • 195 citations

Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome

2002 • 194 citations

Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity

2004 • 188 citations

Quantification of splice variants using real-time PCR

2001 • 136 citations

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity

2002 • 132 citations

Determinants of 4-Repeat Tau Expression

2000 • 129 citations

Predicting Splice Variant from DNA Chip Expression Data

2001 • 121 citations

Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors

2004 • 120 citations

Correction of Alternative Splicing of Tau in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17

2001 • 116 citations

Gene structure-based splice variant deconvolution using a microarry platform

2003 • 102 citations

Long‐lasting acetylcholinesterase splice variations in anticholinesterase‐treated Alzheimer's disease patients

2004 • 93 citations

Optimization of oligonucleotide arrays and RNA amplification protocols for analysis of transcript structure and alternative splicing

2003 • 85 citations

EASED: Extended Alternatively Spliced EST Database

2003 • 64 citations

PALS db: Putative Alternative Splicing database

2002 • 62 citations

Alterations in human tau transcripts correlate with those of neurofilament in sporadic tauopathies

2004 • 40 citations

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives

2002 • 27 citations

Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay

2003 • 22 citations

Quantitative real time polymerase chain reaction for measurement of human interleukin-5 receptor alpha spliced isoforms mRNA.

2003 • 19 citations

Alternate splice-site utilization in the gene for the catalytic subunit of the DNA-activated protein kinase, DNA-PKcs

1996 • 17 citations

Identification of cis-Elements Regulating Exon 15 Splicing of the Amyloid Precursor Protein Pre-mRNA

2000 • 10 citations

Specificity of Alternative Splice Form Detection Using RT-PCR with a Primer Spanning the Exon Junction

2003 • 9 citations

Quantification of human Aiolos splice variants by real-time PCR

2002 • 9 citations

Deleted Work

1955 • 0 citations