Published in Nucleic Acids Res on April 25, 1988
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The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res (2004) 54.37
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Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Genetic alterations during colorectal-tumor development. N Engl J Med (1988) 26.82
Variable number of tandem repeat (VNTR) markers for human gene mapping. Science (1987) 25.71
Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics (1990) 13.23
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet (1997) 10.93
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Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science (1991) 9.89
Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol (1986) 8.95
Incidence of and risk factors for atrial fibrillation in older adults. Circulation (1997) 8.18
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell (1984) 8.14
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell (1990) 8.10
A closely linked genetic marker for cystic fibrosis. Nature (1985) 7.85
Resolution of linkage for irregular phenotype systems. Hum Hered (1981) 6.99
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Construction of linkage maps with DNA markers for human chromosomes. Nature (1985) 6.38
Molecular basis of human hypertension: role of angiotensinogen. Cell (1992) 6.07
A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature (2000) 6.01
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science (1997) 6.00
When is cancer pain mild, moderate or severe? Grading pain severity by its interference with function. Pain (1995) 5.97
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science (2000) 5.85
A unified model for complex segregation analysis. Am J Hum Genet (1983) 5.67
p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. Cell (2000) 5.64
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Complex segregation analysis with pointers. Hum Hered (1981) 5.59
Allelotype of colorectal carcinomas. Science (1989) 5.54
The action of tetrodotoxin on electrogenic components of squid giant axons. J Gen Physiol (1965) 5.42
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature (1996) 5.32
AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. Nat Genet (2000) 5.26
The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell (1990) 5.24
Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science (1993) 5.22
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet (1992) 5.14
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet (1993) 5.09
Complete genome structure of the nitrogen-fixing symbiotic bacterium Mesorhizobium loti. DNA Res (2000) 4.94
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89
Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A (1997) 4.89
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell (1990) 4.84
Identification of a conserved region required for hormone dependent transcriptional activation by steroid hormone receptors. EMBO J (1992) 4.69
Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science (1993) 4.63
Rapid colorectal adenoma formation initiated by conditional targeting of the Apc gene. Science (1997) 4.62
The gene for familial polyposis coli maps to the long arm of chromosome 5. Science (1987) 4.48
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet (2000) 4.48
Associations between cigarette smoking, lifestyle factors, and microsatellite instability in colon tumors. J Natl Cancer Inst (2000) 4.39
Transient regulation of protein synthesis in Escherichia coli upon shift-up of growth temperature. J Bacteriol (1978) 4.38
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Linkage mapping from pair-wise recombination data. Heredity (Edinb) (1977) 4.32
Complete genomic sequence of the filamentous nitrogen-fixing cyanobacterium Anabaena sp. strain PCC 7120. DNA Res (2001) 4.27
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet (1998) 4.25
A primary genetic map of markers of human chromosome 10. Genomics (1988) 4.23
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res (1992) 4.21
Complete genome sequence of the alkaliphilic bacterium Bacillus halodurans and genomic sequence comparison with Bacillus subtilis. Nucleic Acids Res (2000) 4.11
Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet (1996) 4.09
Identification and characterization of the potential promoter regions of 1031 kinds of human genes. Genome Res (2001) 4.03
A primary genetic map of chromosome 13q. Am J Hum Genet (1986) 4.01
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature (1988) 3.96
The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med (1992) 3.92
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature (1998) 3.86
Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet (1984) 3.86
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet (1986) 3.83
Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping. Am J Hum Genet (1983) 3.82
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet (1988) 3.58
A genome-wide search for quantitative trait loci underlying asthma. Nature (1996) 3.58
The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell (1990) 3.56
A mapped set of DNA markers for human chromosome 17. Genomics (1988) 3.55