Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.

1980 • 8,711 citations

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1987 • 5,745 citations

A general method ofin vitropreparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

1988 • 2,410 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1986 • 1,863 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1989 • 286 citations

Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase

1984 • 279 citations

The Molecular Basis of the Sparse Fur Mouse Mutation

1987 • 253 citations

Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage

1987 • 149 citations

Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.

1981 • 135 citations

Structure of the Human Ornithine Transcarbamylase Gene1

1988 • 121 citations

Kinetics and specificity of T₄ polynucleotide kinase

1975 • 79 citations

Recent Advances in the Development of Methods for Detecting Single-base Substitutions Associated with Human Genetic Diseases

1986 • 62 citations

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

1988 • 56 citations

Structure of the rat ornithine carbamoyltransferase gene, a large, X chromosome-linked gene with an atypical promoter.

1987 • 45 citations

The ornithine transcarbamylase leader peptide directs mitochondrial import through both its midportion structure and net positive charge.

1987 • 44 citations

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

1986 • 38 citations

Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency

1984 • 35 citations

The genetic structure of mouse ornithine transcarbamylase

1988 • 30 citations

Toward a molecular understanding of ornithine transcarbamylase deficiency.

1988 • 9 citations