Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Identification of a Chromosome 18q Gene that Is Altered in Colorectal Cancers

1990 • 1,747 citations

DNA typing from single hairs

1988 • 809 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands

1988 • 563 citations

Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains

1985 • 453 citations

Cloning of decay-accelerating factor suggests novel use of splicing to generate two proteins

1987 • 359 citations

Automated DNA sequencing of the human HPRT locus

1990 • 357 citations

Recombination at the human α-globin gene cluster: Sequence features and topological constraints

1987 • 345 citations

A minimal intron length but no specific internal sequence is required for splicing the large rabbit β-globin intron

1984 • 328 citations

The organization of 3' splice-site sequences in mammalian introns.

1989 • 310 citations

Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns

1989 • 267 citations

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

1990 • 254 citations

Signals for the selection of a splice site in pre-mRNA

1987 • 247 citations

The distribution of interspersed repetitive DNA sequences in the human genome

1989 • 192 citations

Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution.

1986 • 183 citations

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

1984 • 172 citations

Sequence conservation in Alu evolution

1989 • 172 citations

A human rel proto-oncogene cDNA containing an Alu fragment as a potential coding exon.

1989 • 171 citations

A sex chromosome rearrangement in a human XX male caused by Alu—Alu recombination

1987 • 154 citations

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

1977 • 148 citations

Renaturation rate studies of a single family of interspersed repeated sequences in human deoxyribonucleic acid

1981 • 109 citations

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

1988 • 101 citations

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

1988 • 96 citations

Structure of the gene for human complement protein decay accelerating factor.

1990 • 93 citations

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

1988 • 86 citations

Distribution and consenus of branch point signals in eukaryotic genes: a computerized statistical analysis

1990 • 81 citations

Isolation and sequence analysis of a cDNA clone encoding the fifth complement component.

1985 • 66 citations

Reversibility of IVS 2 missplicing in a mutant human beta-globin gene.

1985 • 35 citations