High Throughput Parallel Analysis of Hundreds of Patient Samples for More Than 100 Mutations in Multiple Disease Genes

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

A genetic model for colorectal tumorigenesis

1990 • 11,800 citations

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

1994 • 5,994 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Identification of the breast cancer susceptibility gene BRCA2

1995 • 3,581 citations

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1989 • 2,480 citations

Light-generated oligonucleotide arrays for rapid DNA sequence analysis.

1994 • 1,353 citations

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes.

1989 • 1,025 citations

A Ligase-Mediated Gene Detection Technique

1988 • 834 citations

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

1985 • 818 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

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1991 • 550 citations

Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA Duplexes

1985 • 538 citations

Direct fluorescence analysis of genetic polymorphisms by hybridization with oligonucleotide arrays on glass supports

1994 • 493 citations

The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA

1981 • 473 citations

The human glucocerebrosidase gene and pseudogene: Structure and evolution

1989 • 421 citations

Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: Evaluation using experimental models

1992 • 381 citations

Detection of single base substitutions in total genomic DNA

1985 • 375 citations

Sequencing of megabase plus DNA by hybridization: Theory of the method

1989 • 352 citations

A novel method for nucleic acid sequence determination

1988 • 316 citations

Current methods of mutation detection

1993 • 263 citations

An oligonucleotide hybridization approach to DNA sequencing

1989 • 232 citations

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

1988 • 226 citations

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

1993 • 216 citations

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels☆

1991 • 213 citations

Transactions Of the Association of American Physicians

2009 • 187 citations

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

1993 • 171 citations

A point mutation in the last intron responsible for increased expression and transforming activity of the c-Ha-ras oncogene

1988 • 140 citations

A simplified procedure for developing multiplex PCRs.

1995 • 117 citations

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

1993 • 113 citations

Primer extension technique for the detection of single nucleotide in genomic DNA

1990 • 97 citations

Analyses of cytogenetic damage in rodents following exposure to simulated groundwater contaminated with pesticides and a fertilizer

1993 • 64 citations

Solid-phase methods for sequencing of nucleic acids I. Simultaneous sequencing of different oligodeoxyribonucleotides using a new, mechanically stable anion-exchange paper

1985 • 46 citations

How to find all those mutations

1995 • 38 citations

"Code of practice and guidance on human genetic testing services supplied direct to the public". Advisory Committee on Genetic Testing.

1998 • 16 citations

Structure of human hemoglobin messenger RNA and its relation to hemoglobinopathies.

1977 • 3 citations