High-Throughput Methods for Detection of Genetic Variation

AFLP: a new technique for DNA fingerprinting

1995 • 12,637 citations

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

1998 • 2,163 citations

Accessing Genetic Information with High-Density DNA Arrays

1996 • 1,511 citations

Rapid nanopore discrimination between single polynucleotide molecules

2000 • 901 citations

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

1996 • 526 citations

Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes

1999 • 485 citations

Microarray fabrication with covalent attachment of DNA using Bubble Jet technology

2000 • 439 citations

Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays

1997 • 348 citations

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

2000 • 346 citations

From gels to chips: ?Minisequencing? primer extension for analysis of point mutations and single nucleotide polymorphisms

1999 • 335 citations

Genome-wide mapping with biallelic markers in Arabidopsis thaliana

1999 • 286 citations

Multiplex detection of single-nucleotide variations using molecular beacons

1999 • 274 citations

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

1998 • 266 citations

Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection

1999 • 242 citations

Universal DNA array detection of small insertions and deletions in BRCA1 and BRCA2

2000 • 209 citations

Genetic Bit Analysis: a solid phase method for typing single nucleotide polymorphisms

1994 • 206 citations

Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry

1997 • 180 citations

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

1991 • 174 citations

Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry

1999 • 142 citations

Sequencing exons 5 to 8 of the p53 gene by MALDI-TOF mass spectrometry

1998 • 135 citations

Fluorescence energy transfer detection as a homogeneous DNA diagnostic method

1997 • 135 citations

Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation

1996 • 122 citations

Mutation detection and typing of polymorphic loci through double-strand conformation analysis

1998 • 111 citations

Genetic testing: The problems and the promise

1997 • 103 citations

High-throughput polymorphism screening and genotyping with high-density oligonucleotide arrays

1999 • 99 citations

High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles

1993 • 94 citations

Mass spectrometry from miniaturized arrays for full comparative DNA analysis

1997 • 93 citations

Coupled amplification and sequencing of genomic DNA.

1991 • 92 citations

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

1999 • 87 citations

Detection of RET proto-oncogene codon 634 mutations using mass spectrometry

1997 • 70 citations

Automated fluorescent analysis procedure for enzymatic mutation detection

1998 • 63 citations

Identification of more than 500 RFLPs by screening random genomic clones.

1988 • 63 citations

Towards automatic detection of point mutations: use of scintillating microplates in solid-phase minisequencing.

1994 • 43 citations

Dilemmas and progress in mutation detection

1993 • 42 citations

Simultaneous genetic typing from multiple short tandem repeat loci using a 96-capillary array electrophoresis system

1999 • 35 citations

Mass spectrometry for genotyping: an emerging tool for molecular medicine

2000 • 32 citations

High performance DNA sequencing, and the detection of mutations and polymorphisms, on the Clipper sequencer

1999 • 32 citations

Differential sequencing with mass spectrometry

1999 • 21 citations

Detection of mutation(s) or polymorphic loci in the genome of experimental animal and human cancer tissues by RAPD/AP-PCR depend on DNA polymerase.

1999 • 18 citations

Single-nucleotide Polymorphism Analysis by MALDI-TOF Mass Spectrometry

2001 • 17 citations

Directed termination PCR: A one-step approach to mutation detection

1998 • 13 citations

Direct DNA sequence determination from total genomic DNA

1997 • 12 citations

Doublex Sequencing in Molecular Diagnosis of Hereditary Diseases

1998 • 10 citations

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers

1999 • 9 citations

Slowly but surely towards better scanning for mutations

1997 • 7 citations

Comparison of detection platforms and post-polymerase chain reaction DNA purification methods for use in conjunction with Cleavase fragment length polymorphism analysis

1999 • 7 citations

Isolation and analysis of amplified cDNA fragments during detection of unknown polymorphisms with temperature modulated heteroduplex chromatography

1999 • 6 citations

Snipping "SNPs": A New Tool for Mining Gene Variations

1999 • 5 citations

Fiberoptic DNA sensor array capable of detecting point mutations

1998 • 3 citations

Mutation analysis using oligonucleotide microarrays

2003 • 2 citations

Detection of P53 Gene Mutations in its Full Translational Sequence by Cleavase Fragment Length Polymorphism Analysis

1999 • 2 citations

Simultaneous genetic typing from multiple short tandem repeat loci using a 96-capillary array electrophoresis system

1999 • 2 citations

Measurement of polymorphic trinucleotide repeats in the androgen receptor gene by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

1999 • 2 citations