High-Throughput MALDI-TOF Discovery of Genomic Sequence Polymorphisms

The Future of Genetic Studies of Complex Human Diseases

1996 • 5,355 citations

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

1989 • 3,707 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

The New Genomics: Global Views of Biology

1996 • 1,174 citations

Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21

2001 • 1,168 citations

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

1997 • 946 citations

An SNP map of the human genome generated by reduced representation shotgun sequencing

2000 • 734 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

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

1996 • 526 citations

Resequencing and mutational analysis using oligonucleotide microarrays

1999 • 517 citations

High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

2001 • 465 citations

The use of single-nucleotide polymorphism maps in pharmacogenomics

2000 • 436 citations

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1998 • 341 citations

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

1989 • 286 citations

A mutant T7 RNA polymerase as a DNA polymerase.

1995 • 282 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

Association testing by DNA pooling: An effective initial screen

2002 • 155 citations

An SNP map of human chromosome 22

2000 • 155 citations

Mapping posttranscriptional modifications in 5S ribosomal RNA by MALDI mass spectrometry

2000 • 120 citations

High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools

2002 • 109 citations

High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

2001 • 94 citations

Mass spectrometry from miniaturized arrays for full comparative DNA analysis

1997 • 93 citations

RNase T1 mediated base-specific cleavage and MALDI-TOF MS for high-throughput comparative sequence analysis

2003 • 88 citations

A strategy for the rapid discovery of disease markers using the MassARRAY system.

2002 • 67 citations

RNaseCut: a MALDI mass spectrometry-based method for SNP discovery

2003 • 60 citations

Applications of heteroduplex analysis for mutation detection in disease genes

1995 • 53 citations

SNP and mutation discovery using base-specific cleavage and MALDI-TOF mass spectrometry

2003 • 48 citations

A Strategy for the Rapid Discovery of Disease Markers Using the MassARRAY^™ System

2002 • 42 citations

Mutation Detection Using Mass Spectrometric Separation of Tiny Oligonucleotide Fragments

2001 • 18 citations

Mutation Detection Using Mass Spectrometric Separation of Tiny Oligonucleotide Fragments

2002 • 15 citations

Methods of detection of single base substitutions in clinical genetic practice.

1990 • 8 citations