PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Accessing Genetic Information with High-Density DNA Arrays

1996 • 1,511 citations

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

1989 • 1,295 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

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

1985 • 538 citations

Mitochondrial DNA sequence variation in human evolution and disease.

1994 • 526 citations

Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two–colour fluorescence analysis

1996 • 526 citations

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

1995 • 421 citations

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

1996 • 398 citations

Validation of mitochondrial DNA sequencing for forensic casework analysis

1995 • 351 citations

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening

1995 • 329 citations

The rapid detection of unknown mutations in nucleic acids

1993 • 320 citations

Human gene mutation

1993 • 316 citations

An estimate of unique DNA sequence heterozygosity in the human genome

1985 • 297 citations

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

1989 • 286 citations

Fluorescence energy transfer dye-labeled primers for DNA sequencing and analysis.

1995 • 247 citations

Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.

1995 • 192 citations

Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products

1994 • 167 citations

Electrophoretically Uniform Fluorescent Dyes for Automated DNA Sequencing

1996 • 157 citations

Increasing the Information Content of STS-Based Genome Maps: Identifying Polymorphisms in Mapped STSs

1996 • 133 citations

High-resolution HLA-DPB typing based upon computerized analysis of data obtained by fluorescent sequencing of the amplified polymorphic exon 2

1993 • 94 citations

Single-well genotyping of diallelic sequence variations by a two-color ELISA-based oligonucleotide ligation assay

1996 • 94 citations

HLA class II “typing”: Direct sequencing of DRB, DQB, and DQA genes

1992 • 87 citations

AmpliTaq ^® DNA Polymerase, FS Dye-Terminator Sequencing: Analysis of Peak Height Patterns

1996 • 84 citations

Applications of heteroduplex analysis for mutation detection in disease genes

1995 • 53 citations

HLA sequence polymorphism and the origin of humans.

1996 • 51 citations

Identification of clusters of biallelic polymorphic sequence-tagged sites (pSTSs) that generate highly informative and automatable markers for genetic linkage mapping

1992 • 51 citations

Sequence-based analysis of the human p53 gene based on microdissection of tumor biopsy samples.

1994 • 44 citations

Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads.

1993 • 29 citations

Orphan Peak Analysis: A Novel Method for Detection of Point Mutations Using an Automated Fluorescence DNA Sequencer

1993 • 23 citations

Efficient, automatic detection of heterozygous bases during large-scale DNA sequence screening.

1995 • 17 citations

Identifylng DNA polymorphisms in humanTCRA/D variable genes by direct sequencing of PCR products

1996 • 13 citations