DNA variation and the future of human genetics

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

1980 • 8,270 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

1989 • 7,327 citations

Viable offspring derived from fetal and adult mammalian cells

1997 • 4,774 citations

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

1993 • 4,145 citations

Hypervariable ‘minisatellite’ regions in human DNA

1985 • 3,789 citations

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

1989 • 3,707 citations

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

1993 • 3,693 citations

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

1993 • 3,693 citations

Genetic Dissection of Complex Traits

1994 • 3,497 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

1993 • 3,080 citations

ANKYLOSING SPONDYLITIS AND HL-A 27

1973 • 1,801 citations

Variable Number of Tandem Repeat (VNTR) Markers for Human Gene Mapping

1987 • 1,683 citations

The Bloom's syndrome gene product is homologous to RecQ helicases

1995 • 1,371 citations

High Association of an HL-A Antigen, W27, with Ankylosing Spondylitis

1973 • 1,365 citations

Light-generated oligonucleotide arrays for rapid DNA sequence analysis.

1994 • 1,353 citations

A genome-wide search for human type 1 diabetes susceptibility genes

1994 • 1,294 citations

Molecular genetic basis of the histo-blood group ABO system

1990 • 1,142 citations

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.

1983 • 895 citations

Linkage strategies for genetically complex traits. II. The power of affected relative pairs.

1990 • 886 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

Analysis of Human Genetic Linkage

1999 • 755 citations

Analysis of Human Genetic Linkage.

1987 • 709 citations

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex

1996 • 650 citations

A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22

1996 • 638 citations

Positional cloning moves from perditional to traditional

1995 • 603 citations

Gene targeting: a practical approach.

1993 • 585 citations

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

1985 • 538 citations

Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse.

1979 • 526 citations

The use of a genetic map of biallelic markers in linkage studies

1997 • 499 citations

How sensitive is PCR-SSCP?

1993 • 468 citations

DNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of man

1979 • 464 citations

Zur Kenntnis der antifermentativen, lytischen und agglutinierenden Wirkungen des Blutserums und der Lymphe

1900 • 389 citations

A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history.

1996 • 373 citations

Detecting single base substitutions as heteroduplex polymorphisms

1992 • 365 citations

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

1997 • 348 citations

The rapid detection of unknown mutations in nucleic acids

1993 • 320 citations

An estimate of unique DNA sequence heterozygosity in the human genome

1985 • 297 citations

THE DETECTION OF AUTOSOMAL LINKAGE IN DATA WHICH CONSIST OF PAIRS OF BROTHERS AND SISTERS OF UNSPECIFIED PARENTAGE

1935 • 271 citations

The generalized sib pair IBD distribution: its use in the detection of linkage

1978 • 244 citations

Polygenic disease: methods for mapping complex disease traits

1995 • 239 citations

Temperature‐Gradient gel electrophoresis of nucleic acids: Analysis of conformational transitions, sequence variations, and protein‐nucleic acid interactions

1989 • 219 citations

Comparison of statistics for candidate-gene association studies using cases and parents.

1994 • 203 citations

Variations in Human Serum β-Globulins

1957 • 195 citations

Use of siblings as controls in case‐control association studies

1997 • 192 citations

Point mutations in the dystrophin gene.

1992 • 189 citations

Mutation detection by solid phase primer extension

1996 • 171 citations

Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13

1996 • 152 citations

The power of identity-by-state methods for linkage analysis.

1990 • 146 citations

DNA sequencing by delayed extraction-matrix-assisted laser desorption/ionization time of flight mass spectrometry.

1996 • 128 citations

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1993 • 123 citations

Use of siblings as controls in case-control association studies

1997 • 102 citations

Multifactorial inheritance in type 1 diabetes

1995 • 95 citations

Ultrarapid Mutation Detection by Multiplex, Solid-Phase Chemical Cleavage

1995 • 93 citations

The maddening hunt for madness genes

1997 • 80 citations

Oligomer-chip technology

1997 • 70 citations

Mutation detection with MutH, MutL, and MutS mismatch repair proteins.

1996 • 59 citations

Detection of 81 of 81 Known Mouse β-Globin Promoter Mutations with T4 Endonuclease VII—The EMC Method

1996 • 53 citations

A study of linkage in man

1954 • 50 citations

Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch

1997 • 48 citations

Practical methods of mutation detection

1996 • 34 citations

Error Analysis in Manual and Automated DNA Sequencing

1993 • 16 citations

Positional cloning reaches maturity

1995 • 15 citations