Published in Genomics on November 01, 1991
Incidence and origin of "null" alleles in the (AC)n microsatellite markers. Am J Hum Genet (1993) 3.18
Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19. Am J Hum Genet (1993) 1.57
The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci U S A (1992) 1.42
Expression of mitogen-activated protein kinase phosphatase-1 in the early phases of human epithelial carcinogenesis. Am J Pathol (1996) 1.37
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet (1996) 1.20
An evaluation of evolutionary constraints on microsatellite loci using null alleles. Genetics (1996) 1.16
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet (1993) 1.14
A strategy for constructing high-resolution genetic maps of the human genome: a genetic map of chromosome 17p, ordered with meiotic breakpoint-mapping panels. Am J Hum Genet (1995) 1.01
Perils of gene mapping with microsatellite markers. Am J Hum Genet (1992) 0.99
Confirmation of chromosome 9p linkage in familial melanoma. Am J Hum Genet (1993) 0.97
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. Am J Hum Genet (1999) 0.96
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. Am J Hum Genet (1996) 0.95
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am J Hum Genet (1992) 0.93
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet (1995) 0.92
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet (1994) 0.89
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). Am J Hum Genet (1995) 0.84
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet (1994) 0.80
Exclusion of familial dysautonomia from more than 60% of the genome. J Med Genet (1993) 0.79
Two statistical tests for meiotic breakpoint analysis. Am J Hum Genet (1995) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet (1989) 62.23
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature (2001) 42.18
Complementary DNA sequencing: expressed sequence tags and human genome project. Science (1991) 19.42
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
Highly pathogenic H5N1 influenza virus infection in migratory birds. Science (2005) 9.64
Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics (1990) 9.41
High throughput fingerprint analysis of large-insert clones. Genome Res (1997) 6.91
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell (1994) 5.96
Dinucleotide repeat polymorphism at the D10S89 locus. Nucleic Acids Res (1990) 5.21
Gene expression profiles of laser-captured adjacent neuronal subtypes. Nat Med (1999) 5.12
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet (1999) 5.09
The ubiquitin pathway in Parkinson's disease. Nature (1998) 4.48
Stable binding of Drosophila heat shock factor to head-to-head and tail-to-tail repeats of a conserved 5 bp recognition unit. Cell (1989) 4.11
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet (2000) 3.87
Three functional classes of transcriptional activation domain. Mol Cell Biol (1996) 3.62
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics (1993) 3.25
HIV-1 tat transcriptional activity is regulated by acetylation. EMBO J (1999) 3.10
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
Molecular biology of malaria parasites. Exp Parasitol (1988) 2.87
Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83
Multifaceted activities of the HIV-1 transactivator of transcription, Tat. J Biol Chem (1999) 2.81
Identification of 28 DNA fragments that detect RFLPs in 13 distinct physical regions of the short arm of chromosome 5. Nucleic Acids Res (1987) 2.72
The syntenic relationship of the zebrafish and human genomes. Genome Res (2000) 2.68
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62
Molecular approach to analyzing the human 5p deletion syndrome, cri du chat. Somat Cell Mol Genet (1985) 2.56
Comprehensive DNA methylation profiling in a human cancer genome identifies novel epigenetic targets. Carcinogenesis (2006) 2.45
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet (1993) 2.35
Radiation hybrid mapping of the zebrafish genome. Proc Natl Acad Sci U S A (1999) 2.27
Activation of integrated provirus requires histone acetyltransferase. p300 and P/CAF are coactivators for HIV-1 Tat. J Biol Chem (1998) 2.26
Functional RT and IN incorporated into HIV-1 particles independently of the Gag/Pol precursor protein. EMBO J (1997) 2.23
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet (1995) 2.17
Human immunodeficiency virus type 1 integrase protein promotes reverse transcription through specific interactions with the nucleoprotein reverse transcription complex. J Virol (1999) 2.16
Direct interaction between the transcriptional activation domain of human p53 and the TATA box-binding protein. J Biol Chem (1993) 2.15
Histone tails modulate nucleosome mobility and regulate ATP-dependent nucleosome sliding by NURF. Proc Natl Acad Sci U S A (2001) 2.13
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry (1998) 2.12
Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. Am J Hum Genet (1988) 2.11
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet (1989) 2.05
Human chromosome 12 is required for elevated HIV-1 expression in human-hamster hybrid cells. Science (1989) 2.03
Single pass sequencing and physical and genetic mapping of human brain cDNAs. Nat Genet (1992) 2.01
Genetic demonstration of mitotic recombination in cultured Chinese hamster cell hybrids. Cell (1984) 1.97
Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5. Mol Cell Biol (1982) 1.97
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology (1996) 1.87
Expression and chromosomal localization of a lymphocyte K+ channel gene. Proc Natl Acad Sci U S A (1990) 1.85
Linkage of the leuS, emtB, and chr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human--Chinese hamster hybrids. Somatic Cell Genet (1982) 1.82
Targeting foreign proteins to human immunodeficiency virus particles via fusion with Vpr and Vpx. J Virol (1995) 1.77
The Ras GTPase-activating-protein-related human protein IQGAP2 harbors a potential actin binding domain and interacts with calmodulin and Rho family GTPases. Mol Cell Biol (1996) 1.77
Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res (1998) 1.73
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67
Transverse-momentum and pseudorapidity distributions of charged hadrons in pp collisions at square root of s = 7 TeV. Phys Rev Lett (2010) 1.67
Characterization of the spoT gene of Escherichia coli. J Biol Chem (1989) 1.67
Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res (2001) 1.65
Inhibition of complement factor C5 protects against anti-myeloperoxidase antibody-mediated glomerulonephritis in mice. Kidney Int (2007) 1.64
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res (1994) 1.63
Cloning and analysis of cDNA encoding a major airway glycoprotein, human tracheobronchial mucin (MUC5). J Biol Chem (1994) 1.62
A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene. Am J Hum Genet (1986) 1.61
Deletion mapping of human chromosome 5 using chromosome-specific DNA probes. Am J Hum Genet (1985) 1.60
A simple sequence repeat polymorphism at the human growth hormone locus. Nucleic Acids Res (1991) 1.60
Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet (1986) 1.59
Genetic counterselective procedure to isolate interspecific cell hybrids containing single human chromosomes: construction of cell hybrids and recombinant DNA libraries specific for human chromosomes 3 and 4. Somat Cell Mol Genet (1986) 1.59
A physical map of the human Y chromosome. Nature (2001) 1.58
Study of the mass and spin-parity of the Higgs boson candidate via its decays to Z boson pairs. Phys Rev Lett (2013) 1.56
Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. J Clin Invest (1998) 1.55
SPK1 is an essential S-phase-specific gene of Saccharomyces cerevisiae that encodes a nuclear serine/threonine/tyrosine kinase. Mol Cell Biol (1993) 1.54
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology (1993) 1.53
Interleukin-6 prevents dexamethasone-induced myeloma cell death. Blood (1994) 1.52
Fine structure analyses of the Drosophila and Saccharomyces heat shock factor--heat shock element interactions. Nucleic Acids Res (1994) 1.47
The human CAS (cellular apoptosis susceptibility) gene mapping on chromosome 20q13 is amplified in BT474 breast cancer cells and part of aberrant chromosomes in breast and colon cancer cell lines. Genome Res (1996) 1.46
Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res (1991) 1.46
A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet (1991) 1.46
Systematic review and meta-analysis of ustekinumab for moderate to severe psoriasis. Clin Exp Dermatol (2014) 1.45
Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease. J Neurol Neurosurg Psychiatry (2001) 1.43
Development of a novel trans-lentiviral vector that affords predictable safety. Mol Ther (2000) 1.42
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet (1994) 1.41
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet (1992) 1.41
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am J Hum Genet (1988) 1.39
Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res (1991) 1.38
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet (1999) 1.35
A fine structure physical map of the short arm of chromosome 5. Am J Hum Genet (1986) 1.35
Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study. Mol Psychiatry (2008) 1.35
Serine phosphorylation, chromosomal localization, and transforming growth factor-beta signal transduction by human bsp-1. J Biol Chem (1996) 1.34
Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am J Hum Genet (1989) 1.34
Olfactory neuroblastoma is not related to the Ewing family of tumors: absence of EWS/FLI1 gene fusion and MIC2 expression. Am J Surg Pathol (1998) 1.34
Expression of syndecan regulates human myeloma plasma cell adhesion to type I collagen. Blood (1993) 1.34
MethylScreen: DNA methylation density monitoring using quantitative PCR. Biotechniques (2007) 1.33
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet (1994) 1.33
Effect of isoleucine, valine, or leucine starvation on the potential for formation of the branched-chain amino acid biosynthetic enzymes. J Bacteriol (1973) 1.33
Dinucleotide repeat polymorphism at the D12S43 locus. Nucleic Acids Res (1990) 1.33
Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci U S A (1993) 1.33
Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci. Nucleic Acids Res (1990) 1.32