Stephen N. Thibodeau

Stephen N. Thibodeau's AcademicInfluence.com Rankings

Philosophy

#4563

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#7128

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#1981

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#2868

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philosophy Degrees

Stephen N. Thibodeau

Biology

#5987

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#8599

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Molecular Biology

#591

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#605

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Genetics

#556

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#633

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biology Degrees

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Philosophy
Biology

Stephen N. Thibodeau's Degrees

Doctorate Medicine Johns Hopkins University

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Stephen N. Thibodeau's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. (1998) (4146)
Microsatellite instability in cancer of the proximal colon. (1993) (3190)
APC mutations occur early during colorectal tumorigenesis (1992) (2025)
Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. (2003) (2023)
CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer (2006) (1849)
Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. (2010) (1318)
Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. (1996) (1255)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. (2016) (1110)
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. (1998) (878)
Characterization of human plasma-derived exosomal RNAs by deep sequencing (2013) (853)
Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. (1995) (806)
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. (2002) (805)
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC (1994) (632)
Evidence for a prostate cancer susceptibility locus on the X chromosome. (1998) (620)
CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer (2013) (574)
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. (2005) (571)
Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. (1998) (569)
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array (2012) (550)
Colorectal cancer screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. (2000) (550)
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. (1998) (542)
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. (2008) (516)
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (2018) (509)
Exosomal miR-1290 and miR-375 as prognostic markers in castration-resistant prostate cancer. (2015) (507)
Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. (1996) (499)
Length of uninterrupted CGG repeats determines instability in the FMR1 gene (1994) (478)
Effect of oxaliplatin, fluorouracil, and leucovorin with or without cetuximab on survival among patients with resected stage III colon cancer: a randomized trial. (2012) (457)
Identification of Lynch syndrome among patients with colorectal cancer. (2012) (456)
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome (2009) (442)
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study (2009) (428)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database (2013) (419)
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer (2014) (416)
DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy. (2011) (399)
Clinical features of 5,628 primary lung cancer patients: experience at Mayo Clinic from 1997 to 2003. (2005) (392)
Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. (1999) (382)
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling (2000) (375)
Colon Cancer Family Registry: An International Resource for Studies of the Genetic Epidemiology of Colon Cancer (2007) (373)
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. (2001) (357)
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing (2004) (349)
Risks of Lynch syndrome cancers for MSH6 mutation carriers. (2010) (346)
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer (2008) (337)
A Transposon-Based Genetic Screen in Mice Identifies Genes Altered in Colorectal Cancer (2009) (337)
Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. (2007) (321)
Human colon cancer profiles show differential microRNA expression depending on mismatch repair status and are characteristic of undifferentiated proliferative states (2009) (315)
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. (2013) (300)
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. (2012) (300)
Mutations in CHEK2 associated with prostate cancer risk. (2003) (299)
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study (2011) (295)
BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. (2003) (295)
Molecular markers identify subtypes of stage III colon cancer associated with patient outcomes. (2015) (285)
Apolipoprotein E: risk factor for Alzheimer disease. (1994) (283)
Next-generation stool DNA test accurately detects colorectal cancer and large adenomas. (2012) (283)
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2019) (280)
Discovery of common and rare genetic risk variants for colorectal cancer (2018) (279)
Cigarette smoking and colorectal cancer risk by molecularly defined subtypes. (2010) (276)
Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease (1998) (273)
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling (vol 26, pg 146, 2000) (2000) (269)
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. (1998) (262)
Genotype‐phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium (1995) (259)
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer (2016) (253)
Evidence for a prostate cancer-susceptibility locus on chromosome 20. (2000) (249)
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. (2004) (245)
Development of a Fluorescent Multiplex Assay for Detection of MSI-High Tumors (2004) (243)
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. (1996) (242)
Evidence for autosomal dominant inheritance of prostate cancer. (1998) (233)
Prognostic impact of deficient DNA mismatch repair in patients with stage III colon cancer from a randomized trial of FOLFOX-based adjuvant chemotherapy. (2013) (232)
Prognostic Significance of Defective Mismatch Repair and BRAF V600E in Patients with Colon Cancer (2008) (231)
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. (1993) (228)
A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. (2005) (220)
Risk SNP-Mediated Promoter-Enhancer Switching Drives Prostate Cancer through lncRNA PCAT19 (2018) (219)
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk (2014) (218)
Pharmacogenetic predictors of adverse events and response to chemotherapy in metastatic colorectal cancer: results from North American Gastrointestinal Intergroup Trial N9741. (2010) (216)
Prognostic impact of microsatellite instability and DNA ploidy in human colon carcinoma patients. (2006) (215)
Substantial unexplained variation in cancer risks for MLH1 and MSH2 mutation carriers (2012) (210)
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. (1994) (210)
Molecular Characterization of MSI-H Colorectal Cancer by MLHI Promoter Methylation, Immunohistochemistry, and Mismatch Repair Germline Mutation Screening (2008) (201)
Microsatellite instability in Muir-Torre syndrome. (1994) (191)
Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease (1998) (187)
HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG) (2012) (186)
Allelic imbalance and microsatellite instability in prostatic adenocarcinoma. (1996) (186)
The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. (2011) (185)
Case-control study of overweight, obesity, and colorectal cancer risk, overall and by tumor microsatellite instability status. (2010) (183)
The histone H3.3K36M mutation reprograms the epigenome of chondroblastomas (2016) (182)
The Mayo Clinic Biobank: a building block for individualized medicine. (2013) (175)
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS (2016) (174)
Multiple Novel Prostate Cancer Predisposition Loci Confirmed by an International Study: The PRACTICAL Consortium (2008) (169)
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (2021) (163)
A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. (2005) (161)
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. (1994) (158)
miRNA Expression in Colon Polyps Provides Evidence for a Multihit Model of Colon Cancer (2011) (150)
Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility Loci. (2004) (149)
Origin of microsatellite instability in gastric cancer. (1999) (149)
BRAF V600E disrupts AZD6244-induced abrogation of negative feedback pathways between extracellular signal-regulated kinase and Raf proteins. (2008) (149)
Gene networks and microRNAs implicated in aggressive prostate cancer. (2009) (148)
Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. (1991) (147)
The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia. (2012) (146)
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. (2016) (146)
Patient and tumor characteristics and BRAF and KRAS mutations in colon cancer, NCCTG/Alliance N0147. (2014) (142)
Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk. (2008) (140)
Estrogen plus progestin use, microsatellite instability, and the risk of colorectal cancer in women. (2007) (140)
Reduced COX-2 protein in colorectal cancer with defective mismatch repair. (1998) (138)
Expression of p53 and 17p allelic loss in colorectal carcinoma. (1992) (137)
Nonparametric tests of association of multiple genes with human disease. (2005) (135)
Genetic heterogeneity in Peutz‐Jeghers syndrome (2000) (134)
Synthesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease. (1992) (133)
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. (2013) (131)
Frequent loss of heterozygosity at 7q31.1 in primary prostate cancer is associated with tumor aggressiveness and progression. (1995) (130)
Clonal studies in the myelodysplastic syndrome using X-linked restriction fragment length polymorphisms. (1990) (130)
The application of fluorescent in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL. (1993) (130)
KRAS Codon 12 and 13 Mutations in Relation to Disease-Free Survival in BRAF–Wild-Type Stage III Colon Cancers from an Adjuvant Chemotherapy Trial (N0147 Alliance) (2014) (129)
Mismatch Repair Gene PMS2 (2004) (129)
Cancer Risks for PMS2-Associated Lynch Syndrome. (2018) (128)
Associations between Smoking, Alcohol Consumption, and Colorectal Cancer, Overall and by Tumor Microsatellite Instability Status (2009) (125)
Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry. (2011) (121)
Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping. (2006) (121)
Evaluation of Genetic Variations in the Androgen and Estrogen Metabolic Pathways as Risk Factors for Sporadic and Familial Prostate Cancer (2007) (120)
MGMT Immunohistochemical Expression and Promoter Methylation in Human Glioblastoma (2007) (118)
Analysis of the RNASEL gene in familial and sporadic prostate cancer. (2002) (117)
Use of Microsatellite Instability and Immunohistochemistry Testing for the Identification of Individuals at Risk for Lynch Syndrome (2004) (116)
Two common chromosome 8q24 variants are associated with increased risk for prostate cancer. (2007) (115)
A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. (2015) (113)
Telomere Length Varies By DNA Extraction Method: Implications for Epidemiologic Research (2013) (111)
Confirmation of deficient mismatch repair (dMMR) as a predictive marker for lack of benefit from 5-FU based chemotherapy in stage II and III colon cancer (CC): A pooled molecular reanalysis of randomized chemotherapy trials (2008) (109)
Preclinical memory decline in cognitively normal apolipoprotein E–ε4 homozygotes (1999) (108)
Human SULT1A1 gene: copy number differences and functional implications. (2007) (107)
Adjuvant mFOLFOX6 with or without cetuxiumab (Cmab) in KRAS wild-type (WT) patients (pts) with resected stage III colon cancer (CC): Results from NCCTG Intergroup Phase III Trial N0147. (2010) (105)
The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – Results of an international collaborative study (2001) (105)
T-cell receptor gene rearrangement analysis: cutaneous T cell lymphoma, peripheral T cell lymphoma, and premalignant and benign cutaneous lymphoproliferative disorders. (1991) (104)
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. (1995) (103)
Novel Common Genetic Susceptibility Loci for Colorectal Cancer (2018) (102)
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type (2003) (102)
Caution on pedigree haplotype inference with software that assumes linkage equilibrium. (2002) (102)
The premortem recognition of systemic senile amyloidosis with cardiac involvement. (1996) (100)
Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression (2013) (100)
Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age (2003) (100)
Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry. (2007) (100)
Representative cDNA libraries and their utility in gene expression profiling. (1999) (99)
Identical precursors for serum transferrin and egg white conalbumin. (1978) (98)
Role of HPC2/ELAC2 in hereditary prostate cancer. (2001) (97)
Chromosomal Instability in Microsatellite-Unstable and Stable Colon Cancer (2006) (97)
Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. (2011) (95)
Frequent truncating mutation of TFAM induces mitochondrial DNA depletion and apoptotic resistance in microsatellite-unstable colorectal cancer. (2011) (94)
Tumor Budding in Colorectal Carcinoma: Confirmation of Prognostic Significance and Histologic Cutoff in a Population-based Cohort (2015) (94)
HMSH6 alterations in patients with microsatellite instability-low colorectal cancer. (2000) (93)
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH (2016) (92)
HEF1, a novel target of Wnt signaling, promotes colonic cell migration and cancer progression (2011) (92)
Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry (2010) (92)
Mycosis fungoides in children and adolescents. (1990) (92)
Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer. (2000) (92)
Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants. (2015) (91)
Efficient recovery of proteins from multiple source samples after trizol® or trizol®LS RNA extraction and long-term storage (2013) (91)
Racial Differences in BRAF/KRAS Mutation Rates and Survival in Stage III Colon Cancer Patients. (2015) (89)
Genome-Wide Diet-Gene Interaction Analyses for Risk of Colorectal Cancer (2014) (89)
Microsatellite instability and hMLH1/hMSH2 expression in young endometrial carcinoma patients: Associations with family history and histopathology (2000) (88)
Evidence for a Prostate Cancer Susceptibility Locus on the X Chromosome (1999) (88)
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. (2016) (87)
Alpha1-antitrypsin deficiency allele carriers among lung cancer patients. (1999) (86)
Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. (1992) (85)
A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry (2013) (85)
Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome. (2015) (85)
Mitochondrial Genetic Polymorphisms and Pancreatic Cancer Risk (2007) (83)
The gene for HMSN2C maps to 12q23-24 (2003) (83)
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants (2018) (83)
Third-party-mediated graft rejection and graft-versus-host disease after T-cell-depleted bone marrow transplantation, as demonstrated by hypervariable DNA probes and HLA-DR polymorphism. (1989) (82)
Leukocyte DNA Methylation Signature Differentiates Pancreatic Cancer Patients from Healthy Controls (2011) (82)
Multiple Genetic Variant Association Testing by Collapsing and Kernel Methods With Pedigree or Population Structured Data (2013) (81)
Genome-Wide Transcriptional Profiling Reveals MicroRNA-Correlated Genes and Biological Processes in Human Lymphoblastoid Cell Lines (2009) (79)
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay (2000) (79)
Genomic instability in neoplasia. (1995) (79)
Rothmund‐Thomson syndrome in siblings: evidence for acquired in vivo mosaicism (1996) (78)
The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium (2015) (78)
Distinct microbes, metabolites, and ecologies define the microbiome in deficient and proficient mismatch repair colorectal cancers (2018) (78)
Iron overload in cirrhosis—HFE genotypes and outcome after liver transplantation (2000) (78)
Confirmation of linkage of prostate cancer aggressiveness with chromosome 19q. (2003) (78)
Cumulative Burden of Colorectal Cancer-Associated Genetic Variants is More Strongly Associated With Early-onset vs Late-onset Cancer. (2019) (78)
Association of DNA Mismatch Repair and Mutations in BRAF and KRAS With Survival After Recurrence in Stage III Colon Cancers: A Secondary Analysis of 2 Randomized Clinical Trials (2017) (77)
Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis (2020) (76)
Microsatellite Instability Accounts for Tumor Site-Related Differences in Clinicopathologic Variables and Prognosis in Human Colon Cancers (2006) (75)
Salivary gland-type lung carcinomas: an EGFR immunohistochemical, molecular genetic, and mutational analysis study (2008) (75)
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. (2020) (74)
Prognostic impact of deficient mismatch repair (dMMR) in 7,803 stage II/III colon cancer (CC) patients (pts): A pooled individual pt data analysis of 17 adjuvant trials in the ACCENT database. (2014) (73)
BRCA1 and BRCA2 have a limited role in familial prostate cancer. (2000) (71)
Risk of microsatellite-unstable colorectal cancer is associated jointly with smoking and nonsteroidal anti-inflammatory drug use. (2006) (71)
Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome. (2015) (71)
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans (2015) (71)
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry (2012) (70)
No association of germline alteration of MSR1 with prostate cancer risk (2003) (70)
Mutation‐specific antibody detects mutant BRAFV600E protein expression in human colon carcinomas (2013) (69)
Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. (1998) (68)
The Role of Defective Mismatch Repair in Small Bowel Adenocarcinoma in Celiac Disease (2004) (67)
Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer. (1997) (67)
The fragile X premutation in carriers and its effect on mutation size in offspring. (1995) (67)
Shared heritability and functional enrichment across six solid cancers (2018) (67)
Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers. (2000) (66)
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. (2011) (65)
Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci (2015) (65)
Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk (2015) (65)
Analysis of Molecular Markers by Anatomic Tumor Site in Stage III Colon Carcinomas from Adjuvant Chemotherapy Trial NCCTG N0147 (Alliance) (2015) (63)
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. (2013) (63)
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. (1993) (63)
Isolated Loss of PMS2 Expression in Colorectal Cancers: Frequency, Patient Age, and Familial Aggregation (2005) (62)
Lynch Syndrome-Associated Extracolonic Tumors Are Rare in Two Extended Families With the Same EPCAM Deletion (2011) (62)
Methylation Markers for Small Cell Lung Cancer in Peripheral Blood Leukocyte DNA (2010) (62)
cis-Expression QTL Analysis of Established Colorectal Cancer Risk Variants in Colon Tumors and Adjacent Normal Tissue (2012) (62)
Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set (2015) (61)
Tumor eosinophil infiltration and improved survival of colorectal cancer patients: Iowa Women’s Health Study (2016) (61)
pharmacogenetic analysis of systemic toxicity and response after 5-fluorouracil (5fu)/cpt-11, 5fu/oxaliplatin (oxal), or Cpt-11/oxal therapy for advanced colorectal cancer (crc): Results from an intergroup trial : 1013 (2003) (60)
Identification of transthyretin variants by sequential proteomic and genomic analysis. (2004) (59)
Polymorphisms in Mitochondrial Genes and Prostate Cancer Risk (2008) (59)
Mutations in the RET protooncogene in sporadic pheochromocytomas. (1995) (59)
Current status of adjuvant chemotherapy for colorectal cancer: Can molecular markers play a role in predicting prognosis? (1992) (58)
PMS2 monoallelic mutation carriers: the known unknown (2015) (58)
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome. (2015) (57)
Adjuvant mFOLFOX6 plus or minus cetuximab (Cmab) in patients (pts) with KRAS mutant (m) resected stage III colon cancer (CC): NCCTG Intergroup Phase III Trial N0147 (2010) (56)
Genome linkage screen for prostate cancer susceptibility loci: Results from the Mayo Clinic familial prostate cancer study (2003) (56)
Prediction of individual genetic risk to prostate cancer using a polygenic score (2015) (56)
Heterogenous MSH6 Loss Is a Result of Microsatellite Instability Within MSH6 and Occurs in Sporadic and Hereditary Colorectal and Endometrial Carcinomas (2015) (56)
Sequential expression of miR‐182 and miR‐503 cooperatively targets FBXW7, contributing to the malignant transformation of colon adenoma to adenocarcinoma (2014) (56)
Predictive Value of APOE Genotyping in Incipient Alzheimer's Diseases a (1996) (55)
Blood lipids and prostate cancer: a Mendelian randomization analysis (2016) (55)
Integrated analysis of genome‐wide copy number alterations and gene expression in microsatellite stable, CpG island methylator phenotype‐negative colon cancer (2013) (55)
Current status of adjuvant chemotherapy for colorectal cancer. Can molecular markers play a role in predicting prognosis? (1992) (54)
High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing (2018) (54)
Lymphocyte recruitment into the tumor site is altered in patients with MSI-H colon cancer (2009) (54)
Preclinical memory decline in cognitively normal apolipoprotein E-epsilon4 homozygotes. (1999) (54)
A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer. (2015) (54)
Associations between colorectal cancer molecular markers and pathways with clinicopathologic features in older women. (2013) (53)
Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. (2005) (53)
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts (1999) (53)
Comparison of the clinical prediction model PREMM1,2,6 and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer (2012) (52)
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. (2005) (52)
Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation (2016) (52)
Microsatellite instability in hereditary and sporadic breast cancers (2003) (51)
Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability. (1996) (51)
Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene. (1994) (50)
Mendelian randomization study of height and risk of colorectal cancer. (2015) (50)
Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes (2011) (49)
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry (2014) (49)
Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers. (2008) (49)
Mutations in the Human naked cuticle Homolog NKD1 Found in Colorectal Cancer Alter Wnt/Dvl/β-Catenin Signaling (2009) (49)
Cytotoxic T Cells and Granzyme B Associated with Improved Colorectal Cancer Survival in a Prospective Cohort of Older Women (2016) (49)
The JNK inhibitor SP600129 enhances apoptosis of HCC cells induced by the tumor suppressor WWOX. (2008) (48)
Role of the Nijmegen Breakage Syndrome 1 Gene in Familial and Sporadic Prostate Cancer (2006) (48)
Thymidylate Synthase Expression in Colon Carcinomas with Microsatellite Instability (2006) (47)
Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. (1987) (47)
The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies (2015) (47)
Molecular remission occurring after donor leukocyte infusions for the treatment of relapsed chronic myelogenous leukemia after allogeneic bone marrow transplantation. (1992) (47)
A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. (1992) (47)
Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases (2015) (46)
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. (1991) (46)
Tumor necrosis factor-α allelic frequency and chromosome 6 allelic imbalance in patients with colorectal cancer (1996) (46)
Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer. (2001) (45)
Association between Body Mass Index and Mortality for Colorectal Cancer Survivors: Overall and by Tumor Molecular Phenotype (2015) (45)
Mapping Complex Traits in a Diversity Outbred F1 Mouse Population Identifies Germline Modifiers of Metastasis in Human Prostate Cancer. (2017) (44)
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts (2017) (44)
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience (2018) (43)
Characterisation of Familial Colorectal Cancer Type X, Lynch syndrome, and non-familial colorectal cancer (2014) (43)
Postmenopausal hormone therapy and colorectal cancer risk by molecularly defined subtypes among older women (2011) (43)
Functional and Clinical Significance of Variants Localized to 8q24 in Colon Cancer (2009) (42)
Genotype prediction in the fragile X syndrome. (1991) (42)
Determining the frequency of de novo germline mutations in DNA mismatch repair genes (2011) (42)
Identification of Novel Variants in Colorectal Cancer Families by High-Throughput Exome Sequencing (2013) (42)
Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. (2016) (41)
Defective DNA Mismatch Repair in Long-Term (≥3 Years) Survivors with Pancreatic Cancer (2005) (41)
Comparison of FOLFIRI with or without cetuximab in patients with resected stage III colon cancer; NCCTG (Alliance) intergroup trial N0147. (2014) (41)
Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives (2014) (41)
H63D is an haemochromatosis associated allele (1998) (40)
Proapoptotic Bad and Bid Protein Expression Predict Survival in Stages II and III Colon Cancers (2008) (40)
Associations Between Intake of Folate and Related Micronutrients with Molecularly Defined Colorectal Cancer Risks in the Iowa Women's Health Study (2012) (40)
hMLH1 and hMSH2 expression in human hepatocellular carcinoma. (2001) (40)
Association of Peutz‐Jeghers‐like Mucocutaneous Pigmentation with Breast and Gynecologic Carcinomas in Women (2000) (40)
Cigarette Smoking and Colorectal Cancer Risk by KRAS Mutation Status Among Older Women (2012) (40)
Specific Variants in the MLH1 Gene Region May Drive DNA Methylation, Loss of Protein Expression, and MSI-H Colorectal Cancer (2010) (40)
A Novel Mutation in KVLQT1 Is the Molecular Basis of Inherited Long QT Syndrome in a Near-Drowning Patient's Family (1998) (40)
Incorporating Functional Annotations for Fine-Mapping Causal Variants in a Bayesian Framework Using Summary Statistics (2016) (40)
Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. (1997) (39)
Origins and prevalence of the American Founder Mutation of MSH2. (2007) (39)
Fine-Mapping the HOXB Region Detects Common Variants Tagging a Rare Coding Allele: Evidence for Synthetic Association in Prostate Cancer (2014) (38)
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival (2020) (38)
Whole‐Genome Sequencing in Healthy People (2017) (38)
Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics. (2007) (37)
Androgen receptor gene polymorphisms and increased risk of urologic measures of benign prostatic hyperplasia. (2004) (37)
Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. (1989) (37)
Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2018) (37)
Chromatin interactions and candidate genes at ten prostate cancer risk loci (2016) (36)
Mutations in the ataxia telangiectasia and rad3‐related–checkpoint kinase 1 DNA damage response axis in colon cancers (2007) (36)
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort (2016) (36)
Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort (2016) (36)
Higher Frequency of Diploidy in Young-Onset Microsatellite-Stable Colorectal Cancer (2007) (36)
Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers (2016) (35)
Apolipoprotein E allele in Chamorros with amyotrophic lateral sclerosis/parkinsonism-dementia complex (1994) (35)
Polygenic hazard score is associated with prostate cancer in multi-ethnic populations (2019) (35)
Molecular Biology of Squamous Cell Carcinoma of the Anus: A Comparison of HIV-Positive and HIV-Negative Patients (2004) (34)
Allelic Imbalance and Microsatellite Instability in Resected Duke's D Colorectal Cancer (1997) (34)
Microsatellite Instability in Keratoacanthoma (1995) (34)
Circulating heart autoantibodies in familial as compared with nonfamilial idiopathic dilated cardiomyopathy. (1994) (34)
Correlation of Chromosomal Instability, Telomere Length and Telomere Maintenance in Microsatellite Stable Rectal Cancer: A Molecular Subclass of Rectal Cancer (2013) (34)
The bcr Gene in Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (1989) (33)
MLH3 mutation in endometrial cancer. (2006) (33)
Comprehensively evaluating cis-regulatory variation in the human prostate transcriptome by using gene-level allele-specific expression. (2015) (33)
Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia (2006) (33)
Simultaneous measurement of estrogen and progesterone receptors in tumor cytosols with use of 125I-labeled estradiol and of 3H-R5020. (1981) (33)
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21 (2016) (32)
The APC E1317Q variant in adenomatous polyps and colorectal cancers. (2003) (31)
Potential impact of family history–based screening guidelines on the detection of early‐onset colorectal cancer (2020) (31)
Confirmation of lymphomatous pulmonary involvement by immunophenotypic and gene rearrangement analysis of bronchoalveolar lavage fluid. (1990) (31)
Transthyretin Ser 6 gene frequency in individuals without amyloidosis (1995) (31)
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes (2017) (31)
SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies (2005) (31)
Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC). (2018) (30)
Establishment of the Cancer Prevention Study II Nutrition Cohort Colorectal Tissue Repository (2014) (30)
The Association of Telomere Length with Colorectal Cancer Differs by the Age of Cancer Onset (2014) (30)
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results (2018) (30)
Alterations in cell proliferation and apoptosis in colon cancers with microsatellite instability (2007) (30)
Genome-Wide Association Study of Prostate Cancer–Specific Survival (2015) (30)
Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16 (1993) (30)
The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. (2007) (30)
Deficiencies in Chfr and Mlh1 synergistically enhance tumor susceptibility in mice. (2009) (29)
Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors. (2016) (29)
Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods. (2005) (28)
Regression models for linkage heterogeneity applied to familial prostate cancer. (2001) (28)
Polyunsaturated fatty acids and prostate cancer risk: a Mendelian randomisation analysis from the PRACTICAL consortium (2016) (28)
Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer. (2015) (28)
Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22 (2012) (28)
The genomic organization of human dystrobrevin (1997) (27)
Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease (2014) (27)
Postmenopausal Hormone Therapy and Colorectal Cancer Risk in Relation to Somatic KRAS Mutation Status among Older Women (2012) (27)
The Association of Tumor Microsatellite Instability Phenotype with Family History of Colorectal Cancer (2009) (27)
Molecular-clinical correlations in children and adults with fragile X syndrome. (1993) (26)
Demonstration of clonality, by X-linked DNA analysis, in chronic natural killer cell lymphocytosis and successful therapy with oral cyclophosphamide. (1992) (26)
Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses (2020) (26)
Evaluation of a new high-dimensional miRNA profiling platform (2009) (26)
The location of the Philadelphia chromosomal breakpoint site and prognosis in chronic granulocytic leukemia. (1990) (26)
Genome‐wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for prostate cancer Genetics using novel sumLINK and sumLOD analyses (2010) (26)
A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data (2019) (26)
Assessing the role of insulin‐like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels (2016) (26)
An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk (2020) (25)
Mutations of SMAD4 account for both LAPS and Myhre syndromes (2012) (25)
Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer. (2020) (25)
Precursor of egg white ovomucoid. Amino acid sequence of an NH2-terminal extension. (1978) (25)
Update on hereditary hemochromatosis and the HFE gene. (1999) (25)
Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study (2016) (25)
Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer (2016) (24)
Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism. (1987) (24)
DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome (2018) (24)
High throughput detection of microsatellite instability by denaturing high‐performance liquid chromatography (2003) (24)
Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome. (2016) (24)
Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer (2017) (24)
Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG) (2012) (23)
FIRE: functional inference of genetic variants that regulate gene expression (2017) (23)
Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis. (1997) (23)
Gluthatione-S-transferase P1 polymorphism I105V in familial and sporadic prostate cancer. (2004) (22)
Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry. (2010) (22)
Characteristics and utilisation of the Mayo Clinic Biobank, a clinic-based prospective collection in the USA: cohort profile (2019) (22)
Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men. (2006) (21)
An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767). (1989) (21)
Genetic architectures of proximal and distal colorectal cancer are partly distinct (2020) (21)
Candidate‐gene association studies with pedigree data: Controlling for environmental covariates (2003) (21)
Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus. (2010) (21)
Model‐based prediction of defective DNA mismatch repair using clinicopathological variables in sporadic colon cancer patients (2010) (21)
Alpha 1-Antitrypsin Deficiency Carriers , Tobacco Smoke , Chronic Obstructive Pulmonary Disease , and Lung Cancer Risk (2008) (21)
Body Mass Index in Early Adulthood and Endometrial Cancer Risk for Mismatch Repair Gene Mutation Carriers (2011) (21)
Prevalence and clinical significance of HFE gene mutations in patients with iron overload. (2000) (20)
Luteinizing hormone β polymorphism and risk of familial and sporadic prostate cancer (2003) (20)
eRNA: a graphic user interface-based tool optimized for large data analysis from high-throughput RNA sequencing (2014) (20)
Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. (1997) (20)
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome (2009) (20)
Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. (2004) (20)
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study (2021) (19)
Ascending the learning curve--MSI testing experience of a six-laboratory consortium. (2006) (19)
Marrow hypoplasia associated with a monoclonal CD8 large granular lymphocyte proliferation: reversal with cyclophosphamide and prednisone. (1989) (19)
CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk (2016) (19)
Origin of adenocarcinoma in a transplanted liver determined by microsatellite analysis. (2002) (19)
A study of aqueous humor formation in patients with cystic fibrosis. (1992) (19)
Germline PKHD1 mutations are protective against colorectal cancer (2011) (19)
Developing a Process for Returning Medically Actionable Genomic Variants to Latino Patients in a Federally Qualified Health Center (2018) (19)
Altered DNA mismatch repair expression in synchronous and metachronous colorectal cancers. (2008) (18)
Mendelian Randomization of Circulating Polyunsaturated Fatty Acids and Colorectal Cancer Risk (2020) (18)
Mutational landscape of candidate genes in familial prostate cancer (2014) (18)
Polymorphisms in the 5α reductase type 2 gene and urologic measures of BPH (2005) (18)
Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan (2020) (18)
Alcohol Intake and Colorectal Cancer Risk by Molecularly Defined Subtypes in a Prospective Study of Older Women (2011) (18)
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (2020) (18)
An American founder mutation in MLH1 (2012) (18)
Frequency of Defective DNA Mismatch Repair in Colorectal Cancer among the Alaska Native People (2007) (17)
The Sangre Por Salud Biobank: Facilitating Genetic Research in an Underrepresented Latino Community (2016) (17)
Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations (2018) (17)
Differential expression and allelotyping of the p73 gene in neuroblastoma. (2000) (17)
Investigating the possible causal role of coffee consumption with prostate cancer risk and progression using Mendelian randomization analysis (2016) (17)
A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair (2001) (17)
De novo 16p deletion: ATR-16 syndrome. (1997) (17)
Robust multipoint identical-by-descent mapping for affected relative pairs. (2005) (17)
Intake of Dietary Fruit, Vegetables, and Fiber and Risk of Colorectal Cancer According to Molecular Subtypes: A Pooled Analysis of 9 Studies (2020) (16)
Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study (2018) (16)
Antibodies to SARS-CoV-2 in All of Us Research Program Participants, January 2-March 18, 2020. (2021) (16)
Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics. (1994) (16)
Premutations in the FMR1 Gene Are Uncommon in Men Undergoing Genetic Testing for Spinocerebellar Ataxia (2008) (16)
COTRANSLATIONAL SEQUESTRATION OF EGG WHITE PROTEINS AND PLACENTAL LACTOGEN INSIDE MEMBRANE VESICLES * (1980) (16)
Altered Expression of hMSH 2 and hMLH 1 in Tumors with Microsatellite Instability and Genetic Alterations in Mismatch Repair Genes 1 (2006) (15)
DNA mismatch repair genes hMLH1, hMSH2, and hMSH6 are not inactivated in bronchioloalveolar carcinomas of the lung (2001) (15)
Colorectal cancer and self-reported tooth agenesis (2014) (15)
Detecting genomic clustering of risk variants from sequence data: cases versus controls (2013) (15)
Returning Genomic Results in a Federally Qualified Health Center: The intersection of precision medicine and social determinants of health. (2020) (15)
Associations between Cigarette Smoking, Hormone Therapy, and Folate Intake with Incident Colorectal Cancer by TP53 Protein Expression Level in a Population-Based Cohort of Older Women (2013) (15)
Familial medullary thyroid cancer and prominent corneal nerves: clinical and genetic analysis. (1995) (15)
Hb Tak confirmed by DNA analysis: not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote. (1998) (15)
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2019) (15)
Human SULT 1 A 1 gene : copy number differences and functional implications (2007) (14)
Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? (2013) (14)
Estimation of genotype relative risks from pedigree data by retrospective likelihoods (2010) (14)
Linkage of nonspecific X-linked mental retardation to Xq21.31. (1992) (14)
Uniparental disomy in congenital disorders: a prospective study. (1995) (14)
Tumor necrosis factor-alpha allelic frequency and chromosome 6 allelic imbalance in patients with colorectal cancer. (1996) (14)
Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG (2012) (14)
SNP interaction pattern identifier (SIPI): an intensive search for SNP‐SNP interaction patterns (2016) (14)
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array (2016) (14)
Pediatric duodenal cancer and biallelic mismatch repair gene mutations (2009) (14)
Hb seal rock [(α2)142 term→Glow, Codon 142 TAA→GAA]: An extended α chain variant associated with Anemia, Microcytosis, and α-Thalassemia-2 (- 3.7 Kb)a (1997) (13)
Overall survival result and outcomes by KRAS, BRAF, and DNA mismatch repair in relation to primary tumor site in colon cancers from a randomized trial of adjuvant chemotherapy: NCCTG (Alliance) N0147. (2014) (13)
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. (1994) (13)
Mutations in the RET proto-oncogene in sporadic pheochromocytomas (1994) (13)
Adjuvant FOLFIRI with or without cetuximab in patients with resected stage III colon cancer: NCCTG Intergroup phase III trial N0147. (2011) (13)
Fragile X syndrome: skin elastin abnormalities. (1987) (13)
Aberrantly Methylated Gene Marker Levels in Stool: Effects of Demographic, Exposure, Body Mass, and Other Patient Characteristics (2012) (12)
No fumarate hydratase (FH) mutations in hereditary prostate cancer (2003) (12)
Polymorphisms in the 5alpha reductase type 2 gene and urologic measures of BPH. (2005) (12)
The effect of sample size on polygenic hazard models for prostate cancer (2019) (12)
Linkage homogeneity near the fragile X locus in normal and fragile X families. (1991) (12)
Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q. (1994) (12)
Associations between Environmental Exposures and Incident Colorectal Cancer by ESR2 Protein Expression Level in a Population-Based Cohort of Older Women (2015) (11)
Pancreatic Cancer and a Novel MSH2 Germline Alteration (2011) (11)
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study (2021) (11)
Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (2019) (11)
National Cancer Institute Prostate Cancer Genetics Workshop. (2011) (11)
Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes (2016) (11)
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene (2015) (11)
The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium (2015) (11)
HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG) (2012) (11)
Erratum: DNA Mismatch Repair Status and Colon Cancer Recurrence and Survival in Clinical Trials of 5-Fluorouracil-Based Adjuvant Therapy (Journal of the National Cancer Institute (2011) 103:11 (863-875)) (2011) (10)
Fine mapping of familial prostate cancer families narrows the interval for a susceptibility locus on chromosome 22q12.3 to 1.36 Mb (2008) (10)
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes. (2015) (10)
PROCESSING OF PRECURSOR PROTEINS BY PREPARATIONS OF OVIDUCT MICROSOMES * (1980) (10)
Hb Silver Springs [beta 131(H9)Gln-->His], a new hemoglobin variant found in six African-Americans. (1998) (10)
Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk. (2006) (10)
Genetically characterized positive control cell lines derived from residual clinical blood samples. (2005) (10)
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study. (2021) (10)
Prognostic value of BRAF V600E and KRAS exon 2 mutations in microsatellite stable (MSS), stage III colon cancers (CC) from patients (pts) treated with adjuvant FOLFOX+/- cetuximab: A pooled analysis of 3934 pts from the PETACC8 and N0147 trials. (2015) (10)
Experimental Designs for Array Comparative Genomic Hybridization Technology (2013) (9)
Prevalence and clinical significance of HFE gene mutations in patients with iron overload (2000) (9)
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (2021) (9)
Erratum: MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps (Gastroenterology (2004) 127 (9-16) PII: S0016-5085(04)00580-3 and DOI: 10.1053/j.gastro.2004.03.070) (2004) (9)
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples (2015) (9)
gsSKAT: Rapid gene set analysis and multiple testing correction for rare‐variant association studies using weighted linear kernels (2017) (9)
Stability of BAT26 in Lynch syndrome colorectal tumours (2007) (9)
Primary splenic lymphocyte-depletion Hodgkin's disease. (1990) (9)
Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis (2021) (9)
CpG Island Methylator Phenotype in Human Colorectal Cancer Is Tightly Associated with BRAF Mutation and Underlies Sporadic Mismatch Repair Deficiency. (2006) (9)
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array (2016) (9)
Family history of colorectal cancer and its impact on survival in patients with resected stage III colon cancer: results from NCCTG Trial N0147 (Alliance). (2017) (9)
Association of mitochondrial DNA copy number with self-rated health status (2018) (9)
Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations (2012) (9)
Parent of origin effects on age at colorectal cancer diagnosis (2010) (9)
Cholecystectomy and the risk of colorectal cancer by tumor mismatch repair deficiency status (2016) (8)
Tumor budding in colorectal carcinoma (2015) (8)
Role of HPC 2 / ELAC 2 in Hereditary Prostate Cancer 1 (2001) (8)
Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus. (1996) (8)
Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy. (1995) (8)
Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn (1996) (8)
Search for chromosome instability in lymphocytes with germ-line mutations in DNA mismatch repair genes. (1998) (7)
Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome (2019) (7)
Hypermethylation of the hMLHl Promoter in Colon Cancer with Microsatellite Instability 1 (2006) (7)
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families (2012) (7)
Antibodies to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in All of Us Research Program Participants, 2 January to 18 March 2020 (2021) (7)
Colorectal Tumour Microsatellite Instability Test Results: Perspectives from Patients (2004) (7)
A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation. (1990) (7)
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium (2022) (7)
DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita. (1998) (7)
Germline miRNA DNA variants and the risk of colorectal cancer by subtype (2016) (6)
Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case‐Control Sequencing Studies (2016) (6)
Testing Genetic Linkage with Relative Pairs and Covariates by Quasi-Likelihood Score Statistics (2007) (6)
Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium (2017) (6)
Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus. (1991) (6)
The APC E 1317 Q Variant in Adenomatous Polyps and Colorectal Cancers 1 (2003) (6)
Childhood cancers in families with and without Lynch syndrome (2015) (6)
An expanded variant list and assembly annotation identifies multiple novel coding and noncoding genes for prostate cancer risk using a normal prostate tissue eQTL data set (2019) (6)
Discovery of common and rare genetic risk variants for colorectal cancer (2018) (6)
The bcr gene in Philadelphia chromosome positive acute lymphoblastic leukemia. (1989) (6)
Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb). (1997) (6)
Will molecular genetic markers help predict the clinical behavior of colorectal neoplasia? (1992) (6)
Association Between Smoking and Molecular Subtypes of Colorectal Cancer (2021) (6)
Postmenopausal Hormone Therapy and Colorectal Cancer Risk by Molecularly Defined Subtypes and Tumor Location (2020) (6)
1054 Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH (2015) (6)
Distinct microbes, metabolites, and ecologies define the microbiome in deficient and proficient mismatch repair colorectal cancers (2018) (6)
DNA Sequence Analysis Proves HB M-Milwaukee-2 is DUE to β-Globin Gene Codon 92 (CAC→TAC), The Presumed Mutation of HB M-Hyde Park HB M-Akita (1998) (6)
Association of tumor infiltrating lymphocytes (TILs) with molecular subtype and prognosis in stage III colon cancers (CC) from a FOLFOX-based adjuvant chemotherapy trial. (2016) (5)
Fragile X syndrome: linkage analysis in black and white populations. (1988) (5)
Analysis of the estrogen receptor from human uterus and breast tumor tissue by isoelectric focusing. (1983) (5)
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2020) (5)
Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci (2019) (5)
Influence of KRAS and BRAF mutational status and rash on disease-free survival (DFS) in patients with resected stage III colon cancer receiving cetuximab (Cmab): Results from NCCTG N0147. (2011) (5)
Identification of the molecular genetic defect of patients with methemoglobin M Kankakee (M-Iwate), α87 (F8) His → Tyr: Evidence for an electrostatic model of αM hemoglobin assembly (1999) (5)
Alpha 1-Antitrypsin Deficiency Allele Carriers among Lung Cancer Patients 1 (1999) (5)
Prognostic impact of BRAF and KRAS mutations and their relationship to DNA mismatch repair (MMR) status in 2,686 stage III colon cancer patients (pts) treated in a phase III study of adjuvant FOLFOX with or without cetuximab: NCCTG N0147. (2012) (5)
Minimum qualifications for directors: DNA-based genetic-testing laboratories [10] (1992) (5)
Carrier identification of cystic fibrosis by recombinant DNA techniques. (1989) (4)
Prevalence of HFE gene mutation in normal blood donors and in patients with iron overload (1998) (4)
Publisher Correction: Shared heritability and functional enrichment across six solid cancers (2019) (4)
Loss of expression of zymogen granule protein 16 in colorectal cancer (2005) (4)
ROLE OF PROTEASES IN THE SECRETION OF LYSOZYME, OVOMUCOID, CONALBUMIN AND OVALBUMIN FROM THE CHICK OVIDUCT (1978) (4)
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma (2019) (4)
Identification of the molecular genetic defect of patients with methemoglobin M-Kankakee (M-Iwate), alpha87 (F8) His --> Tyr: evidence for an electrostatic model of alphaM hemoglobin assembly. (1999) (4)
Mutation detection in colorectal cancers : direct sequencing of DNA mismatch repair genes. (2001) (4)
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures (2022) (4)
KLK3 SNP–SNP interactions for prediction of prostate cancer aggressiveness (2021) (4)
Signal-Regulated Kinase and Raf Proteins Negative Feedback Pathways between Extracellular BRAF V 600 E Disrupts AZD 6244-Induced Abrogation of Updated (2008) (4)
Characteristics Associated With Recruitment and Re-contact in Mayo Clinic Biobank (2020) (4)
Clustering of Lynch syndrome malignancies with no evidence for a role of DNA mismatch repair. (2008) (4)
Beyond GWAS of Colorectal Cancer: Evidence of Interaction with Alcohol Consumption and Putative Causal Variant for the 10q24.2 Region. (2022) (3)
A polymerase chain reaction-based test for spinal and bulbar muscular atrophy. (1996) (3)
Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome (1988) (3)
Affected relative pairs and simultaneous search for two‐locus linkage in the presence of epistasis (2007) (3)
Recent applications of PCR in clinical laboratory medicine. (1994) (3)
Abstracts (2011) (3)
High-Throughput Processing to Preserve Viable Cells: A Precision Medicine Initiative Cohort Program Workshop. (2017) (3)
Erratum: Diagnosis of α-1-antitrypsin deficiency: An algorithm of genotyping, phenotyping, and quantitation (Clinical Chemistry (2006) 52, (2236-2242) DOI: 10.1373/clinchem.2006.072991) (2007) (3)
AA9int: SNP interaction pattern search using non‐hierarchical additive model set (2018) (3)
Use of restriction fragment length polymorphism analysis for detecting carriers of "fragile X" syndrome. (1987) (3)
Characterization of human plasma-derived exosomal RNAs by deep sequencing (2013) (3)
Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (2021) (3)
1028 Comparison of the Clinical Prediction Model Premm1,2,6 With Colorectal Cancer Molecular Tumor Testing for Lynch Syndrome in the Colon Cancer Family Registry (2010) (3)
Refined gene localization for MRX7. (1999) (3)
Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2019) (3)
Eight novel polymorphisms in the dystrophin gene of african‐americans: The rate of polymorphism is high (1993) (3)
Body mass index and molecular subtypes of colorectal cancer (2022) (3)
HB Cook [β132(H10)Lys → Thr]: A New Hemoglobin Vart in A Southeast Asian Family (1996) (3)
Familial risk of colon cancer is high in younger patients with intraductal papillary mucinous tumor of the pancreas (IPMT): Evaluation of a possible molecular mechanism (2001) (2)
Mutator gene effect in colorectal cancer (1994) (2)
Racial differences in KRAS/BRAF mutation rates and survival in colon cancer (NCCTG N0147 [Alliance]). (2014) (2)
Hereditary Nonpolyposis Colorectal Cancer (2007) (2)
Colorectal cancer cases with de novo germ-line mutations in MLH1, MSH2, and MSH6 from the Colon Cancer Family Registry. (2011) (2)
146 Diabetes Mellitus (DM) and Colorectal Cancer (CRC) Risk by Molecularly-Defined Subtypes in a Prospective Study of Older Women (2010) (2)
Lynch syndrome TACSTD1 family with predominant colorectal cancer. (2010) (2)
Molecular Characteristics of Early-Onset Colorectal Cancer According to Detailed Anatomical Locations: Comparison With Later-Onset Cases (2022) (2)
Analysis of time-dependent patterns of treatment effect and failure to explain the predictive role of deficient mismatch repair (dMMR) in stage II and III colon cancer (CC). (2010) (2)
Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L 3 region on chromosome 22 q 12 as a risk locus (2010) (2)
Abstract 574: Exosomal miR-1290 and miR-375 as prognostic markers in metastatic castrate resistant prostate cancer (2014) (2)
Physical activity and risks of breast and colorectal cancer: A Mendelian randomization analysis (2019) (2)
Genetic testing for Prader-Willi and Angelman syndromes. (1995) (2)
A modified method for quantifying urinary vanillylmandelic acid. (1987) (2)
Minimum qualifications for directors: DNA-based genetic-testing laboratories. DNA Testing Subcommittee, Quality Assurance Committee, Council of Regional Networks for Genetic Services. (1992) (2)
Correction: Colorectal Cancer Linkage on Chromosomes 4q21, 8q13, 12q24, and 15q22 (2012) (2)
Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci (2017) (2)
Author Correction: Large-scale transcriptome-wide association study identifies new prostate cancer risk regions (2019) (2)
Clinical significance of tumor microsatellite instability and immunohistochemistry for mismatch repair deficiency in colorectal cancers (2005) (2)
Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? (2013) (2)
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (2021) (2)
Molecular abnormalities in colorectal cancer: Microsatellite instability pathway (1998) (2)
Response to Li and Hopper. (2021) (2)
Molecular subtyping of colon cancers and distinct prognostic groups [NCCTG N0147 (Alliance)]. (2014) (2)
Tea and Chocolate Consumption and Colorectal Cancer Risk by Molecularly Defined Subtypes in a Prospective Cohort Study of Older Women: Presidential Poster: 2094 (2013) (2)
A microRNA Transcriptome-wide Association Study of Prostate Cancer Risk (2022) (2)
Prolactinoma as the first manifestation of Gardner's syndrome (2008) (2)
Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG) (2011) (1)
Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer (2017) (1)
Colorectal Cancer Linkage on Chromosomes 4 q 21 , 8 q 13 , 12 q 24 , and 15 q 22 (2012) (1)
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma (2018) (1)
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants (2018) (1)
Sequence analysis of the fragile X trinucleotide repeat: Correlations with stability and haplotype and implications for the origin of fragile X alleles (1994) (1)
Prognostic role of detailed colorectal location and tumor molecular features: analyses of 13,101 colorectal cancer patients including 2994 early-onset cases (2023) (1)
Colorectal cancer and self-reported tooth agenesis (2014) (1)
Stool bat-26 testing as adjunct to screening sigmoidoscopy: A feasibility analysis (2001) (1)
A novel, noninvasive, mRNA gene expression colon cancer screening methodology. (2010) (1)
eRNA: a graphic user interface-based tool optimized for large data analysis from high-throughput RNA sequencing (2014) (1)
Diabetes mellitus in relation to colorectal tumor molecular subtypes: A pooled analysis of more than 9000 cases (2022) (1)
Novel methods to enhance single strand conformation polymorphism (SSCP) senstivity and efficiency: Application to mutation detection in cystic fibrosis (CF) (1994) (1)
Myriad Genetic Laboratories (2004) (1)
Exploratory Genome-Wide Interaction Analysis of Nonsteroidal Anti-inflammatory Drugs and Predicted Gene Expression on Colorectal Cancer Risk (2020) (1)
Alterations in Patients with Microsatellite Instability-Low Colorectal Cancer 1 (2000) (1)
Dystrophin analysis inidiopathic dilated cardiomyopathy (1993) (1)
Alterations in cell proliferation and apoptosis in human colon cancers with microsatellite instability. (2006) (1)
Hb Cook [beta 132(H10)Lys-->Thr]: a new hemoglobin variant in a southeast Asian family. (1996) (1)
Tu1518 Smoking Adversely Affects Colon Cancer Survival and Relapse Rates (2013) (1)
Abstract 3572: Methylated gene marker levels in stool: effects of demographic, drug, and body mass and other patient characteristics (2012) (1)
Pubertal development and prostate cancer risk (2018) (1)
Adenocarcinoma involving colonic hyperplastic polyps is associated with loss of DNA repair enzyme MLH-1 (1998) (1)
Heritable epigenetic mutation of MLHI in a mother and daughter with Lynch syndrome (2010) (1)
Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis (2020) (1)
Model-based prediction of defective DNA mismatch repair using clinicopathological variables in stage II and III colon cancers. (2009) (1)
DNA ploidy is a stronger prognostic variable compared to microsatellite instability or 18q allelic loss in patients with stages II and III colon cancer (2005) (1)
Molecular markers and survival after recurrence in stage III colon cancers from NCCTG N0147 and NSABP C-08 adjuvant chemotherapy trials. (2016) (1)
Abstract 5221: Linking the molecular profile of colorectal tumors to germline genetic and environmental risk factors (2016) (1)
Lack of referral bias in genetic studies of prostate cancer. (2002) (1)
Abstract 4732: Cis-expression QTL analysis of established risk variants for colorectal cancer (2011) (1)
Familial recurrence risk with varying amount of family history (2019) (1)
Diagnosis of (cid:1) -1-Antitrypsin Deficiency: An Algorithm of Quantitation, Genotyping, and Phenotyping (2006) (1)
Abstract 1676: Associations between hormone therapy with incident colorectal cancer by p53 protein expression in a population-based cohort of older women (2012) (1)
Erratum: Frequent loss of heterozygosity at 7q31.1 is associated with tumor aggressiveness and progression (Cancer Research (September 15, 1995) 55 (4114-4119)) (1996) (1)
Short Report Investigating the possible causal role of coffee consumption with prostate cancer risk and progression using Mendelian randomization analysis (2019) (0)
contrast, approximately 15â€”20%of colorectal neoplasms arise through a distinct genetic pathway characterized by microsatellite Instability (MSI) associated with frequent loss of expression of one of the DNA mismatch (2006) (0)
Telomerase distinguishes renal cell carcinoma from renal oncocytoma (1997) (0)
Genome-Wide Interaction Analysis of Genetic Variants with Menopausal Hormone Therapy for Colorectal Cancer Risk. (2022) (0)
Blood lipids and prostate cancer: a Mendelian randomization analysis PRACTICAL consortium (2020) (0)
Functional haploinsufficiency of the elastin gene in patients with isolated supravalvular aortic stenosis (1999) (0)
T2049 Exogenous Estrogen Use and Colorectal Cancer Risk, Overall and By Mismatch Repair Protein Expression Status, Among Older Women (2008) (0)
Utilization of touch preparations and whole genome amplification for loss of heterozygosity analysis in prostate cancer (1994) (0)
Abstract 630: Smoking is associated with risks of molecular subtypes of colorectal cancer (2019) (0)
Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2018) (0)
Role of tumor molecular and pathology features to estimate colorectal cancer risk for first-degree relatives (2014) (0)
No association between androgen receptor gene polymorphisms and urologic measures of BPH in a community-based setting (2003) (0)
Association analyses identify 31 new risk loci for colorectal cancer susceptibility (2019) (0)
Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome (2019) (0)
Association between germline variants and somatic mutations in colorectal cancer (2022) (0)
Genetic linkage between fragile x syndrome and the gene for coagulation factor ix (1985) (0)
Abstract 5102: Telomeres and survival in stage III colon cancers: Findings from NCCTG N0147 (Alliance) study (2014) (0)
prevalent factor IX dimorphism Carrier testing in hemophilia B with an immunoassay that distinguishes a (2011) (0)
Karen Snow-Bailey, Ph.D., 1961–2006 (2007) (0)
DNA mismatch repair enzyme expression (hMLH1, hMSH2) in colorectal adenomas (2000) (0)
Cancer Risks for PMS2-Associated Lynch Syndrome (vol 29, pg 2961, 2018) (2019) (0)
Abstract 2636: Tumor-infiltrating cytotoxic T-cells are associated with improved survival of colorectal cancer patients (2016) (0)
Large-scale transcriptome-wide association study identifies new prostate cancer risk regions (2018) (0)
The utility of brief questionnaire in assessment of risk for hereditary colorectal cancer in a clinic setting (2001) (0)
Childhood cancers in families with and without Lynch syndrome (2015) (0)
Mendelian Randomization Causal Analysis Mendelian randomization study of height and risk of colorectal cancer (2015) (0)
The association of global gene expression in human colon tumors with germline variation at rs6983267 on 8q24 suggests that this SNP is an eQTL hotspot (2009) (0)
Subspecialty Clinics: Medical Genetics Carrier Identification of Cystic Fibrosis by Recombinant (1989) (0)
Author Correction: Large-scale transcriptome-wide association study identifies new prostate cancer risk regions (2019) (0)
Prognostic impact of KRAS and BRAFV600E mutations stratified by tumor site in resected stage III colon cancer patients treated with adjuvant mFOLFOX6 with or without cetuximab: NCCTG N0147 (Alliance). (2013) (0)
Microsatellite Instability Promoter in Colon Cancer with hMLH 1 Hypermethylation of the Updated (2006) (0)
cancer metastatic progression and chromosomal instability in colon , a novel noncoding RNA mapping to 8 q 24 , underlies CCAT 2 Material Supplemental (2013) (0)
Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2019) (0)
Compound heterozygosity for α thalassemia-2 and hemoglobin seal rock produces mild Hb H disease: The α-globin chain mutation in Hb seal rock is a TAA→GAA transversion in the termination codon of the 5′ α2-globin gene (1996) (0)
Abstract A82: Can telomere length be modified in healthy people? (2011) (0)
Efficient recovery of proteins from multiple source samples after trizol® or trizol®LS RNA extraction and long-term storage (2013) (0)
Abstract 3039: Evaluation of intra-tumoral pks+ E. coli, enterotoxigenic B. fragilis and Fusobacterium nucleatum, overall and in early onset disease, in colorectal cancer cases (2023) (0)
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database (2023) (0)
Searching for epistasis and linkage heterogeneity by correlations of pedigree‐specific linkage scores (2008) (0)
284 - Potential Impact of Family History Based Screening Guidelines on Early Cancer Detection Among Individuals at Risk for Young Onset Colorectal Cancer (2018) (0)
Activated EGFR as a prognostic marker in human colon cancer (2008) (0)
Epidermal growth factor receptor expression correlates with histologic grade but not microsatellite instability in primary colon carcinomas. (2006) (0)
Microsatellite instability but not thymidylate synthase is a prognostic variable in primary colon cancers from patients treated in 5-FU-based adjuvant studies. (2006) (0)
Use of eQTL Analysis for the Discovery of Target Genes Identified by GWAS (2014) (0)
Polymorphisms in genes involved in sex hormone metabolism and risk of benign prostatic hyperplasia (2005) (0)
Abstract 2930: Novel colorectal cancer loci in multiplex-proficient mismatch repair families (2012) (0)
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry (2014) (0)
AXIN2 Mutations in Sporadic Ampullary Carcinoma Correlate with Young Age Onset and Aggressive Phenotype (2010) (0)
S1931 Colon Cancers With Defective DNA Mismatch Repair Show Reduced Recurrence, Delayed Time-to-Recurrence and Fewer Distant Metastases (2010) (0)
1 Title : Post-hoc Analysis for Detecting Individual Rare Variant Risk Associations using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies Running Title : Bayesian Probit Rare Variant Analysis (2017) (0)
Abstract 5268: Interactions between genetic predictors of gene expression and dietary factors associated with risk of colorectal cancer (2018) (0)
News and comments (1993) (0)
Isolated supravalvular aortic stenosis is characterized by a spectrum of mutations within the elastin gene (1996) (0)
Abstract 2247: Associations between total T-lymphocytes and colorectal cancer survival in a prospective cohort study of older women (2017) (0)
Alcohol Intake and Colorectal Cancer Risk by KRAS Mutation Status Among Older Women (2011) (0)
S1950 Folate Intake and Colorectal Cancer Risks By CIMP and BRAF-Mutation Status Among Older Women (2009) (0)
Altered MLH1 and MSH2 expression in colorectal cancer is associated with proximal site but not risk of metachronicity: Results of a case-control study (1998) (0)
Contents Vol. 64, 2007 (2007) (0)
6009 Time-dependent patterns of treatment effect and failure as an explanation for the predictive role of deficient mismatch repair (dMMR) in stage II and III colon cancer (2009) (0)
Abstract LB-348: Integrated analysis of microRNA and mRNA expression in microsatellite-stable colon cancer using next-generation sequencing and cDNA microarrays (2011) (0)
Abstract 1286: Targeted deep sequencing of colorectal tumor tissues to study associations of tumor subtypes with germline genetic, lifestyle, and environmental risk factors (2017) (0)
Abstract 2548: Targeted sequencing to identify rare variants in colorectal cancer. (2013) (0)
Abstracts for the Tenth International Conference on Brain Tumour Research and Therapy (2005) (0)
Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study. (1), (2016) (0)
Diabetes Mellitus and Colorectal Cancer Risk by KRAS Mutation Status Among Older Women (2011) (0)
Abstract 2994: Constitutional telomere length correlates with colorectal cancer (CRC), but varies by age of cancer onset (2011) (0)
O-009Prognostic value of BRAFV600E and KRAS exon 2 mutations in microsatellite stable stage III colon cancers from patients treated with FOLFOX + /- cetuximab: A pooled analysis from PETACC8 and N0147 trials (2015) (0)
Abstract 4492: Colorectal cancer survival by molecular subtypes in a population-based cohort of older women (2012) (0)
Detecting genomic clustering of risk variants from sequence data: cases versus controls (2013) (0)
Pediatric colorectal carcinomas infrequently exhibit microsatellite instability or loss of expression of hMLH1 or hMSH2 (2001) (0)
Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations (2012) (0)
#607 Hemoglobin T-Cambodia: a new variant with 2 mutations (Hb E and Hb D-Punjab) confirmed by DNA sequencing (1996) (0)
TITLE: Mendelian randomization of circulating polyunsaturated fatty acids and colorectal cancer risk (2020) (0)
Su1847 Alcohol Consumption and Colorectal Adenoma Risk Among Older Women (2012) (0)
DNA mismatch repair enzyme (MLH1) status of aberrant crypt, foci and small polyps associated with MLH1-negative colon adenocarcinoma (1998) (0)
The effect of sample size on polygenic hazard models for prostate cancer (2020) (0)
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma (2019) (0)
104 Lack of referral bias in genetic studies of prostate cancer (2002) (0)
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (2018) (0)
Genome-Wide LinkageAnalysis of 1 , 233 Prostate Cancer Pedigrees Fromthe International Consortium for ProstateCancerGeneticsUsingNovel sumLINKandsumLODAnalyses (2010) (0)
Abstract 4831: Additive and multiplicative gene-environment interactions for colorectal cancer risk. (2013) (0)
Predict Colorectal Cancer icrosatellite Instability : A Population-Based Study (2007) (0)
A Next Generation Stool DNA Test (NG-Sdna) for Colorectal Cancer Screening: Factors Affecting Neoplasm Detection (2011) (0)
471: Effect of a Family History of Prostate Cancer on Outcome After Radical Retropubic Prostatectomy (2004) (0)
as truly distinctive biological markers or clearly defined pathogenetic mechanisms for this pathway are identified. (2001) (0)
Risk of cancer in MSH6 mutation carriers: an international collaboration (2008) (0)
Abstract 1677: Associations between cigarette smoking with incident colorectal cancer by p53 protein expression in a population-based cohort of older women: (2012) (0)
hypervariable DNA probes and HLA-DR polymorphism T-cell-depleted bone marrow transplantation, as demonstrated by Third-party-mediated graft rejection and graft-versus-host disease after (2011) (0)
Abstract 1151:cMYCamplification in colon cancer: A novel association withBRAFV600E and proficient DNA mismatch repair: (2012) (0)
Abstract LB090: Associations of somatically mutated genes and pathways with colorectal cancer specific survival in 4,500 colorectal cancer patients (2021) (0)
Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease (2013) (0)
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene (2015) (0)
leukemia The bcr gene in Philadelphia chromosome positive acute lymphoblastic (2005) (0)
An interactive strategy for the accurate characterization of transthyretin variants using combined proteomic and genomic technologies (2004) (0)
A genetic hazard score to personalize prostate cancer screening, applied to population data (2019) (0)
Some germ-line mutations in mismatch repair genes in HNPCC patients may confer an increased risk for additional germline defects (2002) (0)
Mutations in the proapoptotic BAX gene are associated with defective DNA mismatch repair and altered tumor growth rates in human colon cancers (2007) (0)
Abstract 1536: Whole genome sequencing of high-grade treatment-naïve prostate tumors (2014) (0)
Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases (2015) (0)
Interactions between genetic predictors of gene expression and dietary factors associated with risk of colorectal cancer (2018) (0)
Shared heritability and functional enrichment across six solid cancers (2019) (0)
Abstract A115: Alcohol use and molecularly defined colorectal cancer risks in a prospective study of older women (2010) (0)
Abstract 2515: The Mayo Clinic Biobank - A growing resource for cancer related studies. (2013) (0)
Abstract 229: Genome-wide association study by colorectal carcinoma subtype (2018) (0)
Abstract 2145: Identification of genomic alterations and integrated gene expression profiles for MSS colon tumors (2010) (0)
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. (1992) (0)
Contents Vol. 139, 2013 (2013) (0)
SimultaneousMeasurementof Estrogenand ProgesteroneReceptorsin TumorCytosolswith Use of 1251-Labeled Estradioland of 3H-R5020 (2004) (0)
Abstract 3652: Hormone therapy and incident colorectal cancer risk by ER beta protein expression level in a population-based cohort of older women. (2013) (0)
Abstract 2965: Functionally informed genome-wide interaction analysis of nonsteroidal anti-inflammatory drugs on colorectal cancer risk (2018) (0)
A comprehensive analysis of clinical and tumor characteristics with BRAF and KRAS mutations status in adjuvant colon cancer trial N0147. (2012) (0)
Abstract A44: Coffee consumption and colorectal cancer risk by molecularly defined subtypes in a prospective cohort study of older women (2013) (0)
Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (2019) (0)
Genetic correlates of therapeutic toxicities of stage III colon carcinoma patients treated with adjuvant FOLFOX+/-cetuximab (NCCTG N0147, Alliance). (2017) (0)
Genetic Basis of Neurologic and Neuromuscular Diseases (2006) (0)
Abstract 1892: Folate intake and incident colorectal cancer by KRAS mutation status in a population-based cohort of older women (2011) (0)
Abstract 1891: Cigarette smoking and incident colorectal cancer by KRAS mutation status in a population-based cohort of older women (2011) (0)
S2036 Pro-Apoptotic Bad and Bid Protein Expression Predict Survival in Stage II and III Colon Cancer Patients (2008) (0)
Clinical HNPCC with no evidence for a role of DNA mismatch repair in cancer susceptibility (2007) (0)
Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (2021) (0)
Mendelian and Mitochondrial Inheritance, Gene Identification, and Clinical Testing (2005) (0)
Microsatellite Instabifity in Colorectal Cancer : Different Mutator Phenotypes and the Principal Involvement of hMLHJ 1 (2006) (0)
High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing (2018) (0)
Gene symbol: HFE Disease: Hereditary hemochromatosis (2001) (0)
Somatic PIK3CA mutations occur in later stage MSI(H) and MSS colorectal cancers (2006) (0)
Abstract B40: Rare variant discovery in known cancer genes from whole-exome sequencingof African American hereditary prostate cancer families (2016) (0)
Measurement of lactic and pyruvic acid on the cobas-bio centrifugal analyzer (1983) (0)
S1963 Colon Cancers with Defective DNA Mismatch Repair Show Delayed Time-to-Recurrence and Differences in Patterns of Metastatic Spread (2009) (0)
The usefulness of cytogenetic and DNA linkage analysis in counseling families with fragile X syndrome. (1990) (0)
Detection of the BRAFV600E protein in human colon carcinomas by a mutation-specific antibody. (2013) (0)
An Intronic RegionwithintheHuman FactorVilGene IsDuplicated within Xq28andIsHomologous tothe Polymorphic LocusDXSI15(767) (1989) (0)
Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan (2020) (0)
Abstract 4368: MicroRNAs miR-503 and -182 regulate FBXW7 contributing to the malignant transformation to colon adenocarcinoma (2014) (0)
169 Associations Between Cigarette Smoking and Incident Colorectal Cancer by ER Beta Protein Expression in a Population-Based Cohort of Older Women (2013) (0)
Synchronous colorectal carcinoma: Presence and concordance of DNA mismatch repair enzyme expression (2000) (0)
Reduced COX-2 protein expression in human colorectal cancer exhibiting defective mismatch repair (1998) (0)
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21 (2016) (0)
Abstract 5518: Clinicopathologic associations with colorectal cancer molecular pathways in a cohort study of older women: (2012) (0)
of sample on polygenic hazard models for prostate cancer. (2020) (0)
Abstract 54: An miRNA transcriptome-wide association study of prostate cancer risk (2020) (0)
Association of the HOXB13 G84E mutation with increased risk for prostate cancer and other malignancies. (2014) (0)
Abstract 2742: Assessment of next generation platforms and use of duplicate runs for whole exome sequencing (2011) (0)
Frequent Loss of Heterozygosity at 7q31.1 Is Associated with Tumor Aggressiveness and Progression (1996) (0)
Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn. (1996) (0)
College News: AMERICAN COLLEGE OF MEDICAL GENETICS (2000) (0)
PRACTICAL (2016). Blood lipids and prostate cancer: a Mendelian randomization analysis. (2016) (0)

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