Detection of specific DNA sequences by fluorescence amplification: a color complementation assay.

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1987 • 5,745 citations

A polymorphic DNA marker genetically linked to Huntington's disease

1983 • 2,329 citations

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1986 • 1,863 citations

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1988 • 1,260 citations

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

1989 • 1,025 citations

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

1982 • 937 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

1978 • 804 citations

DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA.

1988 • 775 citations

Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction.

1988 • 748 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

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

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

1985 • 538 citations

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

1983 • 536 citations

Detection of Minimal Residual Cells Carrying the t(14;18) by DNA Sequence Amplification

1987 • 426 citations

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

1985 • 380 citations

Allelic sequence variation of the HLA-DQ loci: relationship to serology and to insulin-dependent diabetes susceptibility.

1988 • 378 citations

Detection of single base substitutions in total genomic DNA

1985 • 375 citations

Thermostable DNA polymerase chain amplification of t(14;18) chromosome breakpoints and detection of minimal residual disease.

1988 • 341 citations

[49] DNA analysis in the diagnosis of hemoglobin disorders

1981 • 338 citations

Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

1988 • 297 citations

The ligation amplification reaction (LAR)—Amplification of specific DNA sequences using sequential rounds of template-dependent ligation

1989 • 258 citations

Molecular basis and prenatal diagnosis of beta-thalassemia

1988 • 248 citations

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.

1981 • 236 citations

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

1985 • 231 citations

Prenatal Diagnosis of β-Thalassemia

1983 • 193 citations

Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional.

1980 • 124 citations

Electron transfer in a genetically modified bacterial reaction center containing a heterodimer.

1988 • 106 citations

Molecular basis of ? thalassemia in South China

1988 • 76 citations

DETECTION OF B-CELL LYMPHOMA IN PERIPHERAL BLOOD BY DNA HYBRIDISATION

1985 • 61 citations

PRENATAL DIAGNOSIS OF CLASSIC PHENYLKETONURIA BY DNA ANALYSIS

1985 • 60 citations

Detection of cytomegalovirus infection in paraffin-embedded tissue specimens with the polymerase chain reaction.

1989 • 44 citations