Published in Nature on December 23, 1987
Isolation and direct complete nucleotide determination of entire genes. Characterization of a gene coding for 16S ribosomal RNA. Nucleic Acids Res (1989) 19.85
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A (1988) 18.72
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res (1989) 15.35
DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA. Proc Natl Acad Sci U S A (1988) 14.20
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res (1989) 9.04
Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells. Nucleic Acids Res (1988) 8.33
Fidelity of DNA polymerases in DNA amplification. Proc Natl Acad Sci U S A (1989) 5.56
Direct sequencing of enzymatically amplified human genomic DNA. Proc Natl Acad Sci U S A (1988) 4.41
A simple high-resolution procedure to study DNA methylation and in vivo DNA-protein interactions on a single-copy gene level in higher eukaryotes. Proc Natl Acad Sci U S A (1989) 3.97
Use of polymerase chain reaction for detection of Chlamydia trachomatis. J Clin Microbiol (1990) 3.83
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A (1990) 3.72
Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res (1988) 3.00
Novel use of polymerase chain reaction to amplify cellular DNA adjacent to an integrated provirus. J Virol (1989) 2.92
Determination of the rate of base-pair substitution and insertion mutations in retrovirus replication. J Virol (1988) 2.88
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet (1989) 2.68
Nucleic acid amplification in vitro: detection of sequences with low copy numbers and application to diagnosis of human immunodeficiency virus type 1 infection. Clin Microbiol Rev (1989) 2.43
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Hum Genet (1989) 2.42
Coupled amplification and sequencing of genomic DNA. Proc Natl Acad Sci U S A (1991) 2.33
Amplification and sequence analysis of DNA flanking integrated proviruses by a simple two-step polymerase chain reaction method. J Virol (1993) 2.22
Detection of leptospires in urine by polymerase chain reaction. J Clin Microbiol (1989) 1.98
A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proc Natl Acad Sci U S A (1990) 1.90
Enzymatic amplification of human cytomegalovirus sequences by polymerase chain reaction. J Clin Microbiol (1989) 1.81
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am J Hum Genet (1990) 1.78
Amplification of bacterial genomic DNA by the polymerase chain reaction and direct sequencing after asymmetric amplification: application to the study of periplasmic permeases. J Bacteriol (1989) 1.77
Detection, semiquantitation, and genetic variation in hepatitis C virus sequences amplified from the plasma of blood donors with elevated alanine aminotransferase. J Clin Invest (1990) 1.70
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest (1992) 1.68
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet (1989) 1.64
Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction. J Clin Invest (1988) 1.63
Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci U S A (1992) 1.61
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest (1990) 1.52
Functional characterization of core promoter elements: the downstream core element is recognized by TAF1. Mol Cell Biol (2005) 1.46
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. Am J Hum Genet (1990) 1.43
Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. Am J Hum Genet (1991) 1.31
An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. Proc Natl Acad Sci U S A (1989) 1.29
Novel method for monitoring genetically engineered microorganisms in the environment. Appl Environ Microbiol (1989) 1.20
Direct genomic fluorescent on-line sequencing and analysis using in vitro amplification of DNA. Nucleic Acids Res (1989) 1.17
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest (1990) 1.17
Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events. Am J Hum Genet (1994) 1.16
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci U S A (1991) 1.15
Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet (1990) 1.13
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. Proc Natl Acad Sci U S A (1991) 1.11
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1991) 1.08
Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest (1989) 1.08
The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med (2013) 1.08
Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. Proc Natl Acad Sci U S A (1988) 1.08
A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism. EMBO J (1988) 1.06
Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). Proc Natl Acad Sci U S A (1989) 1.05
Detection of single base changes in nucleic acids. Biochem J (1989) 1.05
A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation. J Mol Diagn (2011) 1.04
Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1990) 1.04
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. Am J Hum Genet (1990) 1.04
Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site. Proc Natl Acad Sci U S A (1990) 1.02
A directly repeated sequence in the beta-globin promoter regulates transcription in murine erythroleukemia cells. Mol Cell Biol (1990) 1.01
Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet (1992) 1.01
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet (1990) 1.00
Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity. Proc Natl Acad Sci U S A (1990) 0.99
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. Am J Hum Genet (1991) 0.98
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet (1988) 0.97
A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency. J Clin Invest (1989) 0.96
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene. Am J Hum Genet (1988) 0.95
Distinct modes of gene regulation by a cell-specific transcriptional activator. Proc Natl Acad Sci U S A (2009) 0.94
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. Am J Hum Genet (1992) 0.94
Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency. J Clin Invest (1988) 0.93
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. Proc Natl Acad Sci U S A (1992) 0.92
Detection of plasmid DNA from all Chlamydia trachomatis serovars with a two-step polymerase chain reaction. Appl Environ Microbiol (1990) 0.92
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet (1994) 0.91
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. Am J Hum Genet (1996) 0.91
Molecular genetics of human androgen insensitivity. Eur J Pediatr (1993) 0.90
Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit. Proc Natl Acad Sci U S A (1989) 0.90
Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. J Mol Diagn (2009) 0.89
The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. Am J Hum Genet (1991) 0.86
The polymerase chain reaction. J Clin Pathol (1989) 0.85
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. Am J Hum Genet (1991) 0.85
TBP binding and the rate of transcription initiation from the human beta-globin gene. Nucleic Acids Res (1995) 0.83
A single amino acid substitution in the human histocompatibility leukocyte antigen DR3 beta chain selectively alters antigen presentation. J Exp Med (1988) 0.83
Hemophilia A due to mutations that create new N-glycosylation sites. Proc Natl Acad Sci U S A (1992) 0.83
Direct sequencing of double-stranded DNA PCR products via removing the complementary strand with single-stranded DNA of an M13 clone. Nucleic Acids Res (1990) 0.82
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. J Med Genet (1996) 0.81
Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg. Am J Hum Genet (1990) 0.80
Characterization of single base substitutions in edited apolipoprotein B transcripts. Nucleic Acids Res (1989) 0.75
Systematic comparison of two whole-genome amplification methods for targeted next-generation sequencing using frozen and FFPE normal and cancer tissues. Sci Rep (2017) 0.75
Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device. PLoS One (2017) 0.75
Allan Award Lecture: on jumping fields and "jumping genes". Am J Hum Genet (2009) 0.75
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. J Inherit Metab Dis (2001) 0.75
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science (1988) 220.77
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science (1985) 95.08
A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions. Nucleic Acids Res (1988) 26.70
Direct cloning and sequence analysis of enzymatically amplified genomic sequences. Science (1986) 19.54
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A (1988) 18.72
Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature (1986) 17.77
Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature (1988) 10.84
Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res (1987) 10.38
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47
DNA typing from single hairs. Nature (1988) 9.32
Phenotypic expression in E. coli of a DNA sequence coding for mouse dihydrofolate reductase. Nature (1978) 8.76
High frequency retrotransposition in cultured mammalian cells. Cell (1996) 8.60
Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell (1996) 8.21
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci U S A (1989) 7.79
Biology of mammalian L1 retrotransposons. Annu Rev Genet (2001) 6.52
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A (1983) 6.50
Many human L1 elements are capable of retrotransposition. Nat Genet (1997) 6.27
Reverse transcriptase encoded by a human transposable element. Science (1991) 5.86
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A (1982) 5.85
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet (1984) 5.74
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
Human L1 retrotransposition: cis preference versus trans complementation. Mol Cell Biol (2001) 5.23
Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1985) 5.01
Exon shuffling by L1 retrotransposition. Science (1999) 4.99
Isolation, characterization, and expression in Escherichia coli of the DNA polymerase gene from Thermus aquaticus. J Biol Chem (1989) 4.96
High-level expression, purification, and enzymatic characterization of full-length Thermus aquaticus DNA polymerase and a truncated form deficient in 5' to 3' exonuclease activity. PCR Methods Appl (1993) 4.83
Allelic sequence variation of the HLA-DQ loci: relationship to serology and to insulin-dependent diabetes susceptibility. Proc Natl Acad Sci U S A (1988) 4.19
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12
Analysis of DNA extracted from formalin-fixed, paraffin-embedded tissues by enzymatic amplification and hybridization with sequence-specific oligonucleotides. Biochem Biophys Res Commun (1987) 4.05
Isolation of an active human transposable element. Science (1991) 3.99
The polymerase chain reaction. Trends Genet (1989) 3.95
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet (1995) 3.74
Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease. JAMA (1989) 3.65
Nomenclature for the major histocompatibility complexes of different species: a proposal. Immunogenetics (1990) 3.53
Western Blot analysis of the antigens of Toxoplasma gondii recognized by human IgM and IgG antibodies. J Immunol (1983) 3.53
Lack of association between early exposure to cow's milk protein and beta-cell autoimmunity. Diabetes Autoimmunity Study in the Young (DAISY) JAMA (1996) 3.52
Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A (1989) 3.50
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. N Engl J Med (1987) 3.44
Ancient DNA and the polymerase chain reaction. The emerging field of molecular archaeology. J Biol Chem (1989) 3.44
T-DNA from Agrobacterium Ti plasmid is in the nuclear DNA fraction of crown gall tumor cells. Proc Natl Acad Sci U S A (1980) 3.32
A sensitive radioimmunoassay for detecting products translated from cloned DNA fragments. Cell (1978) 3.30
Limited heterogeneity of rearranged T-cell receptor V alpha transcripts in brains of multiple sclerosis patients. Nature (1990) 3.30
Newborn screening for HLA markers associated with IDDM: diabetes autoimmunity study in the young (DAISY). Diabetologia (1996) 3.23
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The role of HLA class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet (1996) 2.90
Determination of L1 retrotransposition kinetics in cultured cells. Nucleic Acids Res (2000) 2.84
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Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
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A novel active L1 retrotransposon subfamily in the mouse. Genome Res (2001) 2.21
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Selection for T-cell receptor V beta-D beta-J beta gene rearrangements with specificity for a myelin basic protein peptide in brain lesions of multiple sclerosis. Nature (1993) 2.01
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Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature (1982) 1.98
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Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis. J Clin Invest (1983) 1.95
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet (1988) 1.93
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