Published in Nature on February 17, 2000
Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet (2001) 22.07
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97
Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA (2006) 4.34
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 3.99
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72
Forward and reverse genetics through derivation of haploid mouse embryonic stem cells. Cell Stem Cell (2011) 2.69
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet (2002) 2.29
Direct determination of molecular haplotypes by chromosome microdissection. Nat Methods (2010) 2.21
Haploinsufficiency of Flap endonuclease (Fen1) leads to rapid tumor progression. Proc Natl Acad Sci U S A (2002) 2.17
HaploRec: efficient and accurate large-scale reconstruction of haplotypes. BMC Bioinformatics (2006) 2.08
Completely phased genome sequencing through chromosome sorting. Proc Natl Acad Sci U S A (2010) 1.96
STK11/LKB1 Peutz-Jeghers gene inactivation in intraductal papillary-mucinous neoplasms of the pancreas. Am J Pathol (2001) 1.89
Understanding the accuracy of statistical haplotype inference with sequence data of known phase. Genet Epidemiol (2007) 1.87
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet (2003) 1.80
Direct molecular haplotyping of long-range genomic DNA with M1-PCR. Proc Natl Acad Sci U S A (2003) 1.74
Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies. Genome Res (2004) 1.74
Incorporating genotyping uncertainty in haplotype inference for single-nucleotide polymorphisms. Am J Hum Genet (2004) 1.66
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59
Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Am J Med Genet A (2009) 1.57
Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet (2000) 1.49
Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer (2005) 1.47
Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer (2005) 1.40
Haplotype-specific effects on endothelial NO synthase promoter efficiency: modifiable by cigarette smoking. Arterioscler Thromb Vasc Biol (2002) 1.40
Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet (2000) 1.34
Random Effects Models in a Meta-Analysis of the Accuracy of Two Diagnostic Tests Without a Gold Standard. J Am Stat Assoc (2009) 1.25
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA (2005) 1.24
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Am J Hum Genet (2007) 1.13
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. J Med Genet (2008) 1.11
The utility of immunohistochemical detection of DNA mismatch repair gene proteins. Virchows Arch (2004) 1.09
An efficient method for multi-locus molecular haplotyping. Nucleic Acids Res (2006) 1.06
Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard. Biostatistics (2005) 1.05
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00
Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans. J Med Genet (2004) 0.98
Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example. Nucleic Acids Res (2005) 0.97
Confirmation of linkage to and localization of familial colon cancer risk haplotype on chromosome 9q22. Cancer Res (2010) 0.96
The history of Lynch syndrome. Fam Cancer (2013) 0.94
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. Proc Natl Acad Sci U S A (2008) 0.94
SNP-specific extraction of haplotype-resolved targeted genomic regions. Nucleic Acids Res (2008) 0.92
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. J Med Genet (2005) 0.92
Evaluation of two methods for computational HLA haplotypes inference using a real dataset. BMC Bioinformatics (2008) 0.92
The evolution of colorectal cancer genetics-Part 1: from discovery to practice. J Gastrointest Oncol (2014) 0.88
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet (2004) 0.87
Fine mapping of the Schnyder's crystalline corneal dystrophy locus. Hum Genet (2004) 0.86
Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure. J Clin Endocrinol Metab (2008) 0.85
Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene. J Mol Diagn (2004) 0.84
Clinical characterization and genetic mapping of North Carolina macular dystrophy. Vision Res (2007) 0.84
2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments. Am J Hum Genet (2003) 0.83
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. Sci Rep (2013) 0.82
DNA mismatch repair and Lynch syndrome. J Mol Histol (2006) 0.81
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. Eur J Hum Genet (2009) 0.81
Sequence and expression analysis of gaps in human chromosome 20. Nucleic Acids Res (2012) 0.79
Mismatch repair protein expression in colorectal cancer. J Gastrointest Oncol (2013) 0.79
An American founder mutation in MLH1. Int J Cancer (2011) 0.79
Genetic testing for colon cancer: joint statement of the American College of Medical Genetics and American Society of Human Genetics. Joint Test and Technology Transfer Committee Working Group. Genet Med (2001) 0.78
Shotgun haplotyping: a novel method for surveying allelic sequence variation. Nucleic Acids Res (2005) 0.78
A hidden Markov model for haplotype inference for present-absent data of clustered genes using identified haplotypes and haplotype patterns. Front Genet (2014) 0.78
Complementarity of Binding Motifs is a General Property of HLA-A and HLA-B Molecules and Does Not Seem to Effect HLA Haplotype Composition. Front Immunol (2013) 0.78
Correlations between phenotype and microsatellite instability in HNPCC: implications for genetic testing. Fam Cancer (2004) 0.78
Cancer in Jews: introduction and overview. Fam Cancer (2004) 0.77
SNP haplotype mapping in a small ALS family. PLoS One (2009) 0.77
A simple method for gene phasing using mate pair sequencing. BMC Med Genet (2014) 0.75
A Simple PCR-RFLP Method for Genetic Phase Determination in Compound Heterozygotes. Front Genet (2012) 0.75
Clement Richard Boland, Jr., MD: a conversation with the editor. Interview by William Clifford Roberts. Proc (Bayl Univ Med Cent) (2004) 0.75
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Hum Mol Genet (2014) 0.75
Total parenteral nutrition leads to alteration of hepatocyte cell cycle gene expression and proliferation in the mouse. Dig Dis Sci (2007) 0.75
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem (1983) 206.01
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem (1984) 66.58
Serial analysis of gene expression. Science (1995) 60.15
A genetic model for colorectal tumorigenesis. Cell (1990) 44.37
WAF1, a potential mediator of p53 tumor suppression. Cell (1993) 38.72
Surfing the p53 network. Nature (2000) 35.36
p53 mutations in human cancers. Science (1991) 31.96
Preparative and analytical purification of DNA from agarose. Proc Natl Acad Sci U S A (1979) 27.20
Involvement of chemokine receptors in breast cancer metastasis. Nature (2001) 26.07
Lessons from hereditary colorectal cancer. Cell (1996) 25.73
Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science (1997) 24.61
A simplified system for generating recombinant adenoviruses. Proc Natl Acad Sci U S A (1998) 24.58
Identification of c-MYC as a target of the APC pathway. Science (1998) 24.25
Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma. Science (1997) 22.80
Genetic instabilities in human cancers. Nature (1998) 22.76
A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell (1992) 19.87
Requirement for p53 and p21 to sustain G2 arrest after DNA damage. Science (1998) 17.91
Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature (1992) 17.40
Participation of p53 protein in the cellular response to DNA damage. Cancer Res (1991) 16.00
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis. Science (1997) 15.48
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science (1995) 13.15
Definition of a consensus binding site for p53. Nat Genet (1992) 12.76
Genetic instability in colorectal cancers. Nature (1997) 12.51
Allergic Rhinitis and its Impact on Asthma (ARIA) 2008 update (in collaboration with the World Health Organization, GA(2)LEN and AllerGen). Allergy (2008) 12.35
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53
Identification of FAP locus genes from chromosome 5q21. Science (1991) 11.41
A model for p53-induced apoptosis. Nature (1997) 11.38
Characterization of the yeast transcriptome. Cell (1997) 11.33
Mutations of mitotic checkpoint genes in human cancers. Nature (1998) 11.20
Suppression of human colorectal carcinoma cell growth by wild-type p53. Science (1990) 11.18
Genes expressed in human tumor endothelium. Science (2000) 10.75
Digital PCR. Proc Natl Acad Sci U S A (1999) 10.54
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science (1992) 10.12
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell (1993) 9.93
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum (1991) 9.82
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A (1998) 9.66
Gene expression profiles in normal and cancer cells. Science (1997) 9.65
APC mutations occur early during colorectal tumorigenesis. Nature (1992) 9.50
Re-examination and further development of a precise and rapid dye method for measuring cell growth/cell kill. J Immunol Methods (1989) 9.42
Hypomethylation distinguishes genes of some human cancers from their normal counterparts. Nature (1983) 9.28
Prevalence of ras gene mutations in human colorectal cancers. Nature (1987) 9.23
A public database for gene expression in human cancers. Cancer Res (1999) 8.81
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
Identification of a chromosome 18q gene that is altered in colorectal cancers. Science (1990) 8.32
PUMA induces the rapid apoptosis of colorectal cancer cells. Mol Cell (2001) 7.95
Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53. Nature (1993) 7.90
p53 function and dysfunction. Cell (1992) 7.73
14-3-3 sigma is a p53-regulated inhibitor of G2/M progression. Mol Cell (1997) 7.20
Association of the APC tumor suppressor protein with catenins. Science (1993) 7.17
Increased expression of the epidermal growth factor receptor gene in malignant gliomas is invariably associated with gene amplification. Proc Natl Acad Sci U S A (1987) 7.12
Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med (1996) 7.09
Oncogenic forms of p53 inhibit p53-regulated gene expression. Science (1992) 6.73
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
p21 is necessary for the p53-mediated G1 arrest in human cancer cells. Cancer Res (1995) 6.66
The molecular basis of Turcot's syndrome. N Engl J Med (1995) 6.65
Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61
Familial breast-ovarian cancer locus on chromosome 17q12-q23. Lancet (1991) 6.61