Published in Nucleic Acids Res on October 11, 1992
The rates and patterns of deletions in the human factor IX gene. Am J Hum Genet (1994) 0.96
A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res (1984) 181.98
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry (1985) 11.80
Transcription by RNA polymerase III. Annu Rev Biochem (1988) 6.70
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
The "megaprimer" method of site-directed mutagenesis. Biotechniques (1990) 11.92
Genomic amplification with transcript sequencing. Science (1988) 7.52
Shedding light on PCR contamination. Nature (1990) 6.49
Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet (1993) 6.02
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science (1989) 4.48
Comparison of statistics for candidate-gene association studies using cases and parents. Am J Hum Genet (1994) 3.86
Formamide can dramatically improve the specificity of PCR. Nucleic Acids Res (1990) 3.38
Mutations and prognosis in primary myelofibrosis. Leukemia (2013) 3.13
Superkiller mutations in Saccharomyces cerevisiae suppress exclusion of M2 double-stranded RNA by L-A-HN and confer cold sensitivity in the presence of M and L-A-HN. Mol Cell Biol (1984) 2.88
The generation of radiolabeled DNA and RNA probes with polymerase chain reaction. Anal Biochem (1989) 2.83
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry (2005) 2.78
Yeast KRE genes provide evidence for a pathway of cell wall beta-glucan assembly. J Cell Biol (1990) 2.74
Genetic aberrations and survival in plasma cell leukemia. Leukemia (2008) 2.69
General method for amplifying regions of very high G+C content. Nucleic Acids Res (1993) 2.68
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
FIP1L1-PDGFRA in eosinophilic disorders: prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature. Leuk Res (2006) 2.41
Genotypic detection of Mycobacterium tuberculosis rifampin resistance: comparison of single-strand conformation polymorphism and dideoxy fingerprinting. J Clin Microbiol (1995) 2.26
Parameters affecting the yield of DNA from human blood. Anal Biochem (1987) 2.20
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics (1998) 2.19
Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res (1992) 2.19
The molecular epidemiology of p53 gene mutations in human breast cancer. Trends Genet (1997) 2.14
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology (2001) 2.13
Yeast L dsRNA consists of at least three distinct RNAs; evidence that the non-Mendelian genes [HOK], [NEX] and [EXL] are on one of these dsRNAs. Cell (1982) 2.12
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia (2013) 2.11
Specific amplification with PCR of a refractory segment of genomic DNA. Nucleic Acids Res (1988) 2.00
The yeast KRE5 gene encodes a probable endoplasmic reticulum protein required for (1----6)-beta-D-glucan synthesis and normal cell growth. Mol Cell Biol (1990) 1.96
Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene. Am J Med Genet (1993) 1.95
Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility. Genomics (1992) 1.95
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
RNA amplification with transcript sequencing (RAWTS). Nucleic Acids Res (1988) 1.77
Direct sequencing from touch preparations of human carcinomas: analysis of p53 mutations in breast carcinomas. J Natl Cancer Inst (1991) 1.77
Characterization of polymerase chain reaction amplification of specific alleles. Anal Biochem (1990) 1.70
Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes. Leukemia (2013) 1.69
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet (1993) 1.66
Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res (1997) 1.60
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Co-curing of plasmids affecting killer double-stranded RNAs of Saccharomyces cerevisiae: [HOK], [NEX], and the abundance of L are related and further evidence that M1 requires L. J Bacteriol (1982) 1.59
Impact of primary molecular cytogenetic abnormalities and risk of progression in smoldering multiple myeloma. Leukemia (2013) 1.54
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Res (1998) 1.54
SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients. Leukemia (2011) 1.48
SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML. Leukemia (2013) 1.48
Mutation detection by highly sensitive methods indicates that p53 gene mutations in breast cancer can have important prognostic value. Proc Natl Acad Sci U S A (1996) 1.45
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
PCR amplification of specific alleles: rapid detection of known mutations and polymorphisms. Mutat Res (1993) 1.44
Dideoxy fingerprinting (ddE): a rapid and efficient screen for the presence of mutations. Genomics (1992) 1.43
Double-stranded DNA segments can efficiently prime the amplification of human genomic DNA. Nucleic Acids Res (1992) 1.37
Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic study of 277 patients. Leukemia (2011) 1.35
Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA. Biotechniques (1995) 1.34
WHO-defined 'myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations. Leukemia (2010) 1.34
Factor IX inhibitors and anaphylaxis in hemophilia B. J Pediatr Hematol Oncol (1997) 1.34
Frequency of recent retrotransposition events in the human factor IX gene. Hum Mutat (2001) 1.33
A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. Br J Haematol (1990) 1.29
The factor IX gene as a model for analysis of human germline mutations: an update. Hum Mol Genet (1996) 1.29
Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. Leukemia (2007) 1.27
Recurrent IDH mutations in high-risk myelodysplastic syndrome or acute myeloid leukemia with isolated del(5q). Leukemia (2010) 1.26
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet (1994) 1.19
High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet (2009) 1.19
Removal of DNA contamination in polymerase chain reaction reagents by ultraviolet irradiation. Methods Enzymol (1993) 1.16
Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP. PCR Methods Appl (1994) 1.14
A yeast antiviral protein, SKI8, shares a repeated amino acid sequence pattern with beta-subunits of G proteins and several other proteins. Yeast (1993) 1.14
p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers. Oncogene (1995) 1.13
Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species. Genomics (1990) 1.13
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood (1998) 1.12
Evidence that proximal multiple mutations in Big Blue transgenic mice are dependent events. Mutat Res (2000) 1.11
Parameters affecting susceptibility of PCR contamination to UV inactivation. Biotechniques (1991) 1.10
Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification. Biotechniques (2000) 1.09
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. Hum Mutat (1996) 1.08
Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk. Haemophilia (1999) 1.08
NIRCA: a rapid robust method for screening for unknown point mutations. Biotechniques (1996) 1.07
p53 gene mutations in breast cancers in midwestern US women: null as well as missense-type mutations are associated with poor prognosis. Oncogene (1994) 1.07
The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet (1994) 1.07
Lenalidomide therapy in del(5)(q31)-associated myelofibrosis: cytogenetic and JAK2V617F molecular remissions. Leukemia (2007) 1.06
Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. Hum Genet (1990) 1.06
Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques (1999) 1.05
Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations. Hum Mutat (1999) 1.04
Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: analysis of age, tissue, and sequence specificity. Environ Mol Mutagen (2001) 1.04
Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny. Nucleic Acids Res (1991) 1.02
"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am J Hum Genet (1993) 1.01
The size distributions of proteins, mRNA, and nuclear RNA. J Mol Evol (1980) 1.00
Gene disruption indicates that the only essential function of the SKI8 chromosomal gene is to protect Saccharomyces cerevisiae from viral cytopathology. Virology (1987) 1.00
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet (1990) 1.00
Polymerase chain reaction amplification of specific alleles: a general method of detection of mutations, polymorphisms, and haplotypes. Methods Enzymol (1993) 0.99
pK-matched running buffers for gel electrophoresis. Anal Biochem (1999) 0.98
Direct carrier testing in 14 families with haemophilia B. Lancet (1989) 0.98
p53 wild-type and p53 nullizygous Big Blue transgenic mice have similar frequencies and patterns of observed mutation in liver, spleen and brain. Oncogene (1995) 0.98
Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene. Biotechniques (1998) 0.96
The rates and patterns of deletions in the human factor IX gene. Am J Hum Genet (1994) 0.96
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements. Am J Hum Genet (1991) 0.96
IDH mutations and trisomy 8 in myelodysplastic syndromes and acute myeloid leukemia. Leukemia (2010) 0.96
Risk factors for inhibitor formation in haemophilia: a prevalent case-control study. Haemophilia (2009) 0.96
Novel pattern of P53 mutation in breast cancers from Austrian women. J Clin Invest (1995) 0.95
Haplotyping by double PCR amplification of specific alleles. Biotechniques (1991) 0.95