Published in Genomics on December 01, 1987
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet (1994) 1.56
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet (1989) 1.54
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet (1992) 1.03
A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. Am J Hum Genet (1989) 0.95
Genetic analysis of eight loci tightly linked to neurofibromatosis 1. Am J Hum Genet (1989) 0.91
The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am J Hum Genet (1991) 0.86
Translationally controlled tumor protein is a novel biological target for neurofibromatosis type 1-associated tumors. J Biol Chem (2014) 0.84
Integrated proteomics identified novel activation of dynein IC2-GR-COX-1 signaling in neurofibromatosis type I (NF1) disease model cells. Mol Cell Proteomics (2013) 0.83
Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res (1998) 106.16
Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res (1998) 96.63
Consed: a graphical tool for sequence finishing. Genome Res (1998) 59.36
MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics (1987) 54.39
Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A (1987) 35.83
Mapping adenines, guanines, and pyrimidines in RNA. Nucleic Acids Res (1977) 26.63
Global water resources: vulnerability from climate change and population growth. Science (2000) 16.61
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science (1995) 15.20
A genetic linkage map of the human genome. Cell (1987) 13.37
Comparative analyses of multi-species sequences from targeted genomic regions. Nature (2003) 13.31
Global threats to human water security and river biodiversity. Nature (2010) 11.84
Comparative genomics of the lactic acid bacteria. Proc Natl Acad Sci U S A (2006) 10.24
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res (1991) 9.56
Phy M: an RNase activity specific for U and A residues useful in RNA sequence analysis. Nucleic Acids Res (1980) 8.18
Automated finishing with autofinish. Genome Res (2001) 7.97
Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (1997) 7.95
Radioimmunoassay for the measurement of adenosine 3',5'-cyclic phosphate. Proc Natl Acad Sci U S A (1969) 7.81
Imaging beta-amyloid burden in aging and dementia. Neurology (2007) 7.70
Von Recklinghausen neurofibromatosis. N Engl J Med (1981) 7.69
Diversity in the practice of district ethics committees. BMJ (1989) 7.54
Genes galore: a summary of methods for accessing results from large-scale partial sequencing of anonymous Arabidopsis cDNA clones. Plant Physiol (1994) 7.42
Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method. Proc Natl Acad Sci U S A (1984) 7.38
The mammalian gene collection. Science (1999) 7.19
End labeling of enzymatically decapped mRNA. Nucleic Acids Res (1977) 6.58
Analysis of expressed sequence tags indicates 35,000 human genes. Nat Genet (2000) 6.11
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet (1997) 5.58
The molecular genetics of human hemoglobin. Prog Nucleic Acid Res Mol Biol (1984) 5.50
The C. elegans genome sequencing project: a beginning. Nature (1992) 5.36
Site specific enzymatic cleavage of RNA. Nucleic Acids Res (1979) 5.15
Circadian variation in the frequency of onset of acute myocardial infarction. N Engl J Med (1985) 5.09
Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science (1996) 5.06
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A (1990) 4.74
OSP: a computer program for choosing PCR and DNA sequencing primers. PCR Methods Appl (1991) 4.72
A survey of expressed genes in Caenorhabditis elegans. Nat Genet (1992) 4.63
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
Vero cell toxins in Escherichia coli and related bacteria: transfer by phage and conjugation and toxic action in laboratory animals, chickens and pigs. J Gen Microbiol (1983) 4.52
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature (1992) 4.42
Direct sequencing of enzymatically amplified human genomic DNA. Proc Natl Acad Sci U S A (1988) 4.41
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell (1995) 4.34
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet (1996) 4.19
Peptoids: a modular approach to drug discovery. Proc Natl Acad Sci U S A (1992) 4.08
Genetic discrimination and health insurance: an urgent need for reform. Science (1995) 4.08
Communication of results of necropsies in north east Thames region. BMJ (1991) 4.00
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science (1993) 3.88
Construction of a general human chromosome jumping library, with application to cystic fibrosis. Science (1987) 3.87
Characterization of the CHD family of proteins. Proc Natl Acad Sci U S A (1997) 3.76
Soluble epoxide hydrolase regulates hydrolysis of vasoactive epoxyeicosatrienoic acids. Circ Res (2000) 3.70
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell (1990) 3.70
Identification of p53 gene mutations in bladder cancers and urine samples. Science (1991) 3.68
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet (1998) 3.65
Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes. Mol Cell Biol (1992) 3.57
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet (1996) 3.50
Caesarean section: a treatment for mental disorder? Tameside & Glossop Acute Services Unit v CH (a patient) [1996] 1 FLR 762. BMJ (1997) 3.48
Circulating tumour cell (CTC) counts as intermediate end points in castration-resistant prostate cancer (CRPC): a single-centre experience. Ann Oncol (2008) 3.44
Intestinal fluid accumulation induced by oral challenge with Vibrio cholerae or cholera toxin in infant mice. Infect Immun (1977) 3.35
A de novo Alu insertion results in neurofibromatosis type 1. Nature (1991) 3.29
ASHG activities relative to education: Human genetics as a component of medical school curricula: A report to the American society of human genetics. Am J Hum Genet (1988) 3.24
Asia Pacific consensus recommendations for colorectal cancer screening. Gut (2008) 3.19
Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell (1999) 3.16
Nucleotide sequence of the gene encoding the RNA subunit (M1 RNA) of ribonuclease P from Escherichia coli. Cell (1982) 3.12
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. Science (1991) 3.12
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet (1995) 3.05
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N Engl J Med (1989) 3.03
Genetic linkage map of human chromosome 7 with 63 DNA markers. Proc Natl Acad Sci U S A (1987) 2.91
Comparison of fluticasone propionate with beclomethasone dipropionate in moderate to severe asthma treated for one year. International Study Group. Thorax (1993) 2.81
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. JAMA (1997) 2.73
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 2.70
Positional cloning: let's not call it reverse anymore. Nat Genet (1992) 2.69
Strategies for mapping and cloning macroregions of mammalian genomes. Methods Enzymol (1987) 2.68
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62
Abeta deposits in older non-demented individuals with cognitive decline are indicative of preclinical Alzheimer's disease. Neuropsychologia (2008) 2.58
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A (2001) 2.57
Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci U S A (1990) 2.52
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA (1993) 2.51
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am J Hum Genet (1982) 2.44
Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer (1982) 2.43
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet (1995) 2.42
Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci U S A (1998) 2.39
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med (1995) 2.39
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature (1985) 2.33
Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene (1997) 2.32
Community outbreak of psittacosis in a rural Australian town. Lancet (1998) 2.30
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci U S A (1994) 2.25
Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood (1995) 2.23
Electrocardiographic and clinical criteria for recognition of acute myocardial infarction based on analysis of 3,697 patients. Am J Cardiol (1983) 2.18
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res (1998) 2.17
Detecting patterns in protein sequences. J Mol Biol (1994) 2.16
Amyloid load in Parkinson's disease dementia and Lewy body dementia measured with [11C]PIB positron emission tomography. J Neurol Neurosurg Psychiatry (2008) 2.12
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet (1993) 2.10
World Association for the Advancement of Veterinary Parasitology (W.A.A.V.P.) guidelines for evaluating the efficacy of parasiticides for the treatment, prevention and control of flea and tick infestation on dogs and cats. Vet Parasitol (2006) 2.09
Mutational analysis using oligonucleotide microarrays. J Med Genet (1999) 2.05
Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Genet (1989) 2.04
cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics (1991) 2.03
Substrate nucleotide-determined non-templated addition of adenine by Taq DNA polymerase: implications for PCR-based genotyping and cloning. Biotechniques (1996) 2.02