Are splicing mutations the most frequent cause of hereditary disease?

The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003

2003 • 3,670 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

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 citations

Pre-mRNA splicing and human disease

2003 • 1,242 citations

Online Mendelian Inheritance In Man (OMIM)

2000 • 1,115 citations

Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios

2003 • 677 citations

Genomic variants in exons and introns: identifying the splicing spoilers

2004 • 578 citations

A quantitative analysis of intron effects on mammalian gene expression

2003 • 408 citations

Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

1999 • 313 citations

Genome-wide identification of genes likely to be involved in human genetic disease

2004 • 260 citations

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

2003 • 174 citations

Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cells

2003 • 156 citations

Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9

2003 • 140 citations

Why are human G-protein-coupled receptors predominantly intronless?

1999 • 134 citations

Molecular basis of inherited diseases: a structural perspective

2003 • 104 citations

Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome

1999 • 42 citations