• 46098 Citations
  • 100 Scopus h-Index
1978 …2021
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Research Output 1978 2019

  • 46098 Citations
  • 100 Scopus h-Index
  • 491 Article
  • 4 Chapter
  • 4 Comment/debate
  • 1 Review article
2007
99 Citations (Scopus)

Estrogen plus progestin use, microsatellite instability, and the risk of colorectal cancer in women

Newcomb, P. A., Zheng, Y., Chia, V. M., Morimoto, L. M., Doria-Rose, V. P., Templeton, A., Thibodeau, S. N. & Potter, J. D., Aug 1 2007, In : Cancer Research. 67, 15, p. 7534-7539 6 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Progestins
Colorectal Neoplasms
Estrogens
Hormones
91 Citations (Scopus)

Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer

Cunningham, J. M., Hebbring, S. J., McDonnell, S. K., Cicek, M., Christensen, G. B., Wang, L., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., May 2007, In : Cancer Epidemiology Biomarkers and Prevention. 16, 5, p. 969-978 10 p.

Research output: Contribution to journalArticle

Metabolic Networks and Pathways
Androgens
Prostatic Neoplasms
Estrogens
Cytochrome P-450 CYP1A1
8 Citations (Scopus)

Frequency of defective DNA mismatch repair in colorectal cancer among the Alaska Native people

Boardman, L. A., Lanier, A. P., French, A. J., Schowalter, K. V., Burgart, L. J., Koller, K. R., McDonnell, S. K., Schaid, D. J. & Thibodeau, S. N., Nov 1 2007, In : Cancer Epidemiology Biomarkers and Prevention. 16, 11, p. 2344-2350 7 p.

Research output: Contribution to journalArticle

Inuits
DNA Mismatch Repair
Colorectal Neoplasms
Neoplasms
Microsatellite Instability
2 Citations (Scopus)

Hereditary nonpolyposis colorectal cancer

Thorland, E. C. & Thibodeau, S. N., 2007, Molecular Pathology in Clinical Practice. Springer New York, p. 223-232 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hereditary Nonpolyposis Colorectal Neoplasms
Colonic Neoplasms
Neoplasms
23 Citations (Scopus)

Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer

Boardman, L. A., Johnson, R. A., Petersen, G. M., Oberg, A. L., Kabat, B. F., Slusser, J. P., Wang, L., Morlan, B. W., French, A. J., Smyrk, T. C., Lindor, N. M. & Thibodeau, S. N., Apr 15 2007, In : Clinical Cancer Research. 13, 8, p. 2323-2328 6 p.

Research output: Contribution to journalArticle

Diploidy
Microsatellite Repeats
Colorectal Neoplasms
Chromosomal Instability
Allelic Imbalance
91 Citations (Scopus)

Human SULT1A1 gene: Copy number differences and functional implications

Hebbring, S. J., Adjei, A. A., Baer, J. L., Jenkins, G. D., Zhang, J., Cunningham, J. M., Schaid, D. J., Weinshilboum, R. M. & Thibodeau, S. N., Mar 1 2007, In : Human Molecular Genetics. 16, 5, p. 463-470 8 p.

Research output: Contribution to journalArticle

Gene Dosage
5' Flanking Region
Enzymes
African Americans
Single Nucleotide Polymorphism
64 Citations (Scopus)

Mitochondrial genetic polymorphisms and pancreatic cancer risk

Wang, L., Bamlet, W. R., De Andrade, M., Boardman, L. A., Cunningham, J. M., Thibodeau, S. N. & Petersen, G. M., Jul 1 2007, In : Cancer Epidemiology Biomarkers and Prevention. 16, 7, p. 1455-1459 5 p.

Research output: Contribution to journalArticle

Genetic Polymorphisms
Pancreatic Neoplasms
Single Nucleotide Polymorphism
Mitochondrial DNA
Nucleic Acid Regulatory Sequences
21 Citations (Scopus)

Mutations in the ataxia telangiectasia and rad3-related-checkpoint kinase I DNA damage response axis in colon cancers

Lewis, K. A., Bakkum-Gamez, J. N., Loewen, R., French, A. J., Thibodeau, S. N. & Cliby, W. A., Dec 2007, In : Genes Chromosomes and Cancer. 46, 12, p. 1061-1068 8 p.

Research output: Contribution to journalArticle

Ataxia Telangiectasia
Colonic Neoplasms
DNA Damage
Phosphotransferases
Mutation
224 Citations (Scopus)

Pathology Features in Bethesda Guidelines Predict Colorectal Cancer Microsatellite Instability: A Population-Based Study

Jenkins, M. A., Hayashi, S., O'Shea, A. M., Burgart, L. J., Smyrk, T. C., Shimizu, D., Waring, P. M., Ruszkiewicz, A. R., Pollett, A. F., Redston, M., Barker, M. A., Baron, J. A., Casey, G. R., Dowty, J. G., Giles, G. G., Limburg, P. J., Newcomb, P., Young, J. P., Walsh, M. D., Thibodeau, S. N. & 7 others, Lindor, N. M., LeMarchand, L., Gallinger, S., Haile, R. W., Potter, J. D., Hopper, J. L. & Jass, J. R., Jun 2007, In : Gastroenterology. 133, 1, p. 48-56 9 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Colorectal Neoplasms
Guidelines
Pathology
Odds Ratio
4 Citations (Scopus)

Stability of BAT26 in Lynch syndrome colorectal tumours [1]

Jaskowski, L., Young, J., Jackson, L., Arnold, S., Barker, M. A., Walsh, M. D., Buchanan, D. D., Holman, S., Mensink, K. A., Jenkins, M. A., Hopper, J. L., Thibodeau, S. N., Jass, J. R. & Spurdle, A. B., Feb 2007, In : European Journal of Human Genetics. 15, 2, p. 139-141 3 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Chromosomal Instability
Tumor Biomarkers
Microsatellite Repeats
Colorectal Neoplasms
4 Citations (Scopus)

Testing genetic linkage with relative pairs and covariates by quasi-likelihood score statistics

Schaid, D. J., Sinnwell, J. P. & Thibodeau, S. N., Jul 2007, In : Human Heredity. 64, 4, p. 220-233 14 p.

Research output: Contribution to journalArticle

Genetic Linkage
Pedigree
Genetic Heterogeneity
Logistic Models
Least-Squares Analysis
22 Citations (Scopus)

The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing

Riegert-Johnson, D. L., Johnson, R. A., Rabe, K. G., Wang, L., Thomas, B., Baudhuin, L. M., Thibodeau, S. N. & Boardman, L. A., Dec 1 2007, In : Genetic Testing. 11, 4, p. 361-365 5 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Microsatellite Repeats
Colorectal Neoplasms
Mutation
Adenomatous Polyposis Coli
89 Citations (Scopus)

Two common chromosome 8q24 variants are associated with increased risk for prostate cancer

Wang, L., McDonnell, S. K., Slusser, J. P., Hebbring, S. J., Cunningham, J. M., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Apr 1 2007, In : Cancer Research. 67, 7, p. 2944-2950 7 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Chromosomes
Odds Ratio
Haplotypes
Confidence Intervals
79 Citations (Scopus)

Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: Results from the colon cancer family registry

Poynter, J. N., Figueiredo, J. C., Conti, D. V., Kennedy, K., Gallinger, S., Siegmund, K. D., Casey, G., Thibodeau, S. N., Jenkins, M. A., Hopper, J. L., Byrnes, G. B., Baron, J. A., Goode, E. L., Tiirikainen, M., Lindor, N. M., Grove, J., Newcomb, P., Jass, J., Young, J., Potter, J. D. & 3 others, Haile, R. W., Duggan, D. J. & Le Marchand, L., Dec 1 2007, In : Cancer Research. 67, 23, p. 11128-11132 5 p.

Research output: Contribution to journalArticle

Colonic Neoplasms
Registries
Colorectal Neoplasms
Single Nucleotide Polymorphism
Microsatellite Instability
2006
15 Citations (Scopus)

Ascending the learning curve-MSI testing experience of a six-laboratory consortium

Lindor, N. M., Smalley, R., Barker, M., Bigler, J., Krumroy, L. M., Lum-Jones, A., Plummer, S. J., Selander, T., Thomas, S., Youash, M., Seminara, D., Casey, G., Bapat, B. & Thibodeau, S. N., 2006, In : Cancer Biomarkers. 2, 1-2, p. 5-9 5 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Learning Curve
Colorectal Neoplasms
Quality Control
Microsatellite Repeats
63 Citations (Scopus)

Chromosomal instability in microsatellite-unstable and stable colon cancer

Trautmann, K., Terdiman, J. P., French, A. J., Roydasgupta, R., Sein, N., Kakar, S., Fridlyand, J., Snijders, A. M., Albertson, D. G., Thibodeau, S. N. & Waldman, F. M., Nov 1 2006, In : Clinical Cancer Research. 12, 21, p. 6379-6385 7 p.

Research output: Contribution to journalArticle

Chromosomal Instability
Microsatellite Instability
Microsatellite Repeats
Colonic Neoplasms
Neoplasms
1300 Citations (Scopus)

CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer

Weisenberger, D. J., Siegmund, K. D., Campan, M., Young, J., Long, T. I., Faasse, M. A., Kang, G. H., Widschwendter, M., Weener, D., Buchanan, D., Koh, H., Simms, L., Barker, M., Leggett, B., Levine, J., Kim, M., French, A. J., Thibodeau, S. N., Jass, J., Haile, R. & 1 others, Laird, P. W., Jul 2006, In : Nature Genetics. 38, 7, p. 787-793 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
CpG Islands
Colorectal Neoplasms
Methylation
Phenotype
74 Citations (Scopus)

Diagnosis of α-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping

Snyder, M. R., Katzmann, J. A., Butz, M. L., Yang, P., Dawson, D. B., Halling, K. C., Highsmith, W. E. J. & Thibodeau, S. N., Dec 2006, In : Clinical Chemistry. 52, 12, p. 2236-2242 7 p.

Research output: Contribution to journalArticle

Genotype
Assays
Reflex
Alleles
Phenotype
18 Citations (Scopus)

Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men

Mullan, R. J., Bergstralh, E. J., Farmer, S. A., Jacobson, D. J., Hebbring, S. J., Cunningham, J. M., Thibodeau, S. N., Lieber, M. M., Jacobsen, S. J. & Roberts, R. O., Feb 2006, In : Urology. 67, 2, p. 300-305 6 p.

Research output: Contribution to journalArticle

Calcitriol Receptors
Prostatic Hyperplasia
Intercellular Signaling Peptides and Proteins
Confidence Intervals
Cytokines
49 Citations (Scopus)

Microsatellite instability accounts for tumor site-related differences in clinicopathologic variables and prognosis in human colon cancers

Sinicrope, F. A., Rego, R. L., Foster, N., Sargent, D. J., Windschitl, H. E., Burgart, L. J., Witzig, T. E. & Thibodeau, S. N., Dec 2006, In : American Journal of Gastroenterology. 101, 12, p. 2818-2825 8 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Colonic Neoplasms
Neoplasms
Diploidy
DNA Mismatch Repair
17 Citations (Scopus)

MLH3 mutation in endometrial cancer

Taylor, N. P., Powell, M. A., Gibb, R. K., Rader, J. S., Huettner, P. C., Thibodeau, S. N., Mutch, D. G. & Goodfellow, P. J., Aug 1 2006, In : Cancer Research. 66, 15, p. 7502-7508 7 p.

Research output: Contribution to journalArticle

Endometrial Neoplasms
Mutation
Carcinogenesis
Neoplasms
Loss of Heterozygosity
31 Citations (Scopus)

Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia

Roberts, R. O., Bergstralh, E. J., Farmer, S. A., Jacobson, D. J., Hebbring, S. J., Cunningham, J. M., Thibodeau, S. N., Lieber, M. M. & Jacobsen, S. J., Mar 1 2006, In : Prostate. 66, 4, p. 392-404 13 p.

Research output: Contribution to journalArticle

Prostatic Hyperplasia
Gonadal Steroid Hormones
Prostate
Confidence Intervals
Aromatase
172 Citations (Scopus)

Prognostic Impact of Microsatellite Instability and DNA Ploidy in Human Colon Carcinoma Patients

Sinicrope, F. A., Rego, R. L., Halling, K. C., Foster, N., Sargent, D. J., La Plant, B., French, A. J., Laurie, J. A., Goldberg, R. M., Thibodeau, S. N. & Witzig, T. E., Sep 2006, In : Gastroenterology. 131, 3, p. 729-737 9 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Ploidies
Colon
Carcinoma
DNA
57 Citations (Scopus)

Risk of microsatellite-unstable colorectal cancer is associated jointly with smoking and nonsteroidal anti-inflammatory drug use

Chia, V. M., Newcomb, P. A., Bigler, J., Morimoto, L. M., Thibodeau, S. N. & Potter, J. D., Jul 1 2006, In : Cancer Research. 66, 13, p. 6877-6883 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Microsatellite Repeats
Colorectal Neoplasms
Anti-Inflammatory Agents
Smoking
40 Citations (Scopus)

Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer

Hebbring, S. J., Fredriksson, H., White, K. A., Maier, C., Ewing, C., McDonnell, S. K., Jacobsen, S. J., Cerhan, J. R., Schaid, D. J., Ikonen, T., Autio, V., Tammela, T. L. J., Herkommer, K., Paiss, T., Vogel, W., Gielzak, M., Sauvageot, J., Schleutker, J., Cooney, K. A., Isaacs, W. & 1 others, Thibodeau, S. N., May 2006, In : Cancer Epidemiology Biomarkers and Prevention. 15, 5, p. 935-938 4 p.

Research output: Contribution to journalArticle

Nijmegen Breakage Syndrome
Prostatic Neoplasms
Mutation
Genes
Familial Prostate cancer
38 Citations (Scopus)

Thymidylate synthase expression in colon carcinomas with microsatellite instability

Sinicrope, F. A., Rego, R. L., Halling, K. C., Foster, N. R., Sargent, D. J., La Plant, B., French, A. J., Allegra, C. J., Laurie, J. A., Goldberg, R. M., Witzig, T. E. & Thibodeau, S. N., May 1 2006, In : Clinical Cancer Research. 12, 9, p. 2738-2744 7 p.

Research output: Contribution to journalArticle

Thymidylate Synthase
Microsatellite Instability
Colon
Carcinoma
DNA Mismatch Repair
9 Citations (Scopus)

Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk

Wang, X., Wang, F., Taniguchi, K., Seelan, R. S., Wang, L., Zarfas, K. E., McDonnell, S. K., Qian, C., Pan, K., Lu, Y., Shridhar, V., Couch, F. J., Tindall, D. J., Beebe-Dimmer, J. L., Cooney, K. A., Isaacs, W. B., Jacobsen, S. J., Schaid, D. J., Thibodeau, S. N. & Liu, W., Nov 1 2006, In : Cancer Research. 66, 21, p. 10302-10307 6 p.

Research output: Contribution to journalArticle

Apoptosis Regulatory Proteins
p53 Genes
DNA Damage
Prostatic Neoplasms
Apoptosis
2005
110 Citations (Scopus)

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the International Consortium for Prostate Cancer Genetics

Xu, J., Dimitrov, L., Chang, B. L., Adams, T. S., Turner, A. R., Meyers, D. A., Eeles, R. A., Easton, D. F., Foulkes, W. D., Simard, J., Giles, G. G., Hopper, J. L., Mahle, L., Moller, P., Bishop, T., Evans, C., Edwards, S., Meitz, J., Bullock, S., Hope, Q. & 51 others, Hsieh, C. I., Halpern, J., Balise, R. N., Oakley-Girvan, I., Whittemore, A. S., Ewing, C. M., Gielzak, M., Isaacs, S. D., Walsh, P. C., Wiley, K. E., Isaacs, W. B., Thibodeau, S. N., McDonnell, S. K., Cunningham, J. M., Zarfas, K. E., Hebbring, S., Schaid, D. J., Friedrichsen, D. M., Deutsch, K., Kolb, S., Badzioch, M., Jarvik, G. P., Janer, M., Hood, L., Ostrander, E. A., Stanford, J. L., Lange, E. M., Beebe-Dimmer, J. L., Mohai, C. E., Cooney, K. A., Ikonen, T., Baffoe-Bonnie, A., Fredriksson, H., Matikainen, M. P., Tammela, T. L. J., Bailey-Wilson, J., Schleutker, J., Maier, C., Herkommer, K., Hoegel, J. J., Vogel, W., Paiss, T., Wiklund, F., Emanuelsson, M., Stenman, E., Jonsson, B. A., Grönberg, H., Camp, N. J., Farnham, J., Cannon-Albright, L. A. & Seminara, D., Aug 2005, In : American Journal of Human Genetics. 77, 2, p. 219-229 11 p.

Research output: Contribution to journalArticle

Neoplasm Genes
Prostatic Neoplasms
Genetic Heterogeneity
Information Storage and Retrieval
Mutation
173 Citations (Scopus)

A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk

Narla, G., DiFeo, A., Reeves, H. L., Schaid, D. J., Hirshfeld, J., Hod, E., Katz, A., Isaacs, W. B., Hebbring, S., Komiya, A., McDonnell, S. K., Wiley, K. E., Jacobsen, S. J., Isaacs, S. D., Walsh, P. C., Zheng, S. L., Chang, B. L., Friedrichsen, D. M., Stanford, J. L., Ostrander, E. A. & 6 others, Chinnaiyan, A. M., Rubin, M. A., Xu, J., Thibodeau, S. N., Friedman, S. L. & Martignetti, J. A., Feb 15 2005, In : Cancer Research. 65, 4, p. 1213-1222 10 p.

Research output: Contribution to journalArticle

Alternative Splicing
Tumor Suppressor Genes
Prostatic Neoplasms
DNA
Neoplasms
23 Citations (Scopus)

Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods

Baudhuin, L. M., Mai, M., French, A. J., Kruckeberg, K. E., Swanson, R. L., Winters, J. L., Courteau, L. K. & Thibodeau, S. N., May 2005, In : Journal of Molecular Diagnostics. 7, 2, p. 226-235 10 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Gene Dosage
Multiplex Polymerase Chain Reaction
Southern Blotting
DNA Mismatch Repair
34 Citations (Scopus)

Characterization of hMLH1 and hMSH2 gene dosage alterations in lynch syndrome patients

Baudhuin, L. M., Ferber, M. J., Winters, J. L., Steenblock, K. J., Swanson, R. L., French, A. J., Butz, M. L. & Thibodeau, S. N., Sep 2005, In : Gastroenterology. 129, 3, p. 846-854 9 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Gene Dosage
Mutation
Exons
DNA Mismatch Repair
316 Citations (Scopus)

Clinical features of 5,628 primary lung cancer patients: Experience at Mayo Clinic from 1997 to 2003

Yang, P., Allen, M. S., Aubry, M. C., Wampfler, J. A., Marks, R. S., Edell, E., Thibodeau, S. N., Adjei, A., Jett, J. & Deschamps, C., Jul 2005, In : Chest. 128, 1, p. 452-462 11 p.

Research output: Contribution to journalArticle

Lung Neoplasms
Survival Rate
Non-Small Cell Lung Carcinoma
Smoking
Translational Medical Research
1 Citation (Scopus)
Microsatellite Instability
Colorectal Neoplasms
Immunohistochemistry
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms
76 Citations (Scopus)

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

Casey, G., Lindor, N. M., Papadopoulos, N., Thibodeau, S. N., Moskow, J., Steelman, S., Buzin, C. H., Sommer, S. S., Collins, C. E., Butz, M., Aronson, M., Gallinger, S., Barker, M. A., Young, J. P., Jass, J. R., Hopper, J. L., Diep, A., Bapat, B., Salem, M., Seminara, D. & 1 others, Haile, R., Feb 16 2005, In : Journal of the American Medical Association. 293, 7, p. 799-809 11 p.

Research output: Contribution to journalArticle

Colorectal Neoplasms
Mutation
DNA Sequence Analysis
DNA Mismatch Repair
Germ-Line Mutation
30 Citations (Scopus)

Defective DNA mismatch repair in long-term (≥ 3 years) survivors with pancreatic cancer

Maple, J. T., Smyrk, T. C., Boardman, L. A., Johnson, R. A., Thibodeau, S. N. & Chari, S. T., 2005, In : Pancreatology. 5, 2-3, p. 220-227 8 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Pancreatic Neoplasms
Survivors
Microsatellite Instability
Immunohistochemistry
45 Citations (Scopus)

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy

Biancalana, V., Toft, M., Le Ber, I., Tison, F., Scherrer, E., Thibodeau, S. N., Mandel, J. L., Brice, A., Farrer, M. J. & Dürr, A., Jun 2005, In : Archives of Neurology. 62, 6, p. 962-966 5 p.

Research output: Contribution to journalArticle

Multiple System Atrophy
Intellectual Disability
Cerebellar Ataxia
Genes
Olivopontocerebellar Atrophies
8 Citations (Scopus)

Genetically characterized positive control cell lines derived from residual clinical blood samples

Bernacki, S. H., Beck, J. C., Stankovic, A. K., Williams, L. O., Amos, J., Snow-Bailey, K., Farkas, D. H., Friez, M. J., Hantash, F. M., Matteson, K. J., Monaghan, K. G., Muralidharan, K., Pratt, V. M., Prior, T. W., Richie, K. L., Levin, B. C., Rohlfs, E. M., Schaefer, F. V., Shrimpton, A. E., Spector, E. B. & 6 others, Stolle, C. A., Strom, C. M., Thibodeau, S. N., Cole, E. C., Goodman, B. K. & Stenzel, T. T., Nov 2005, In : Clinical Chemistry. 51, 11, p. 2013-2024 12 p.

Research output: Contribution to journalArticle

Blood
Cells
Genetic Testing
Cell Line
Human Herpesvirus 4

Genetic basis of neurologic and neuromuscular diseases

Nagan, N., Klein, C. J., Dawson, D. B., Wick, M. J. & Thibodeau, S. N., 2005, Molecular Diagnostics: For the Clinical Laboratorian. Humana Press, p. 267-280 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Neuromuscular Diseases
Nervous System Diseases
Trinucleotide Repeat Expansion
Human Genome Project
Mutation
44 Citations (Scopus)

Isolated loss of PMS2 expression in colorectal cancers: Frequency, patient age, and familial aggregation

Gill, S., Lindor, N. M., Burgart, L. J., Smalley, R., Leontovich, O., French, A., Goldberg, R. M., Sargent, D. J., Jass, J. R., Hopper, J. L., Jenkins, M. A., Young, J., Barker, M. A., Walsh, M. D., Ruszkiewicz, A. R. & Thibodeau, S. N., Sep 15 2005, In : Clinical Cancer Research. 11, 18, p. 6466-6471 6 p.

Research output: Contribution to journalArticle

Colorectal Neoplasms
DNA Mismatch Repair
Neoplasms
Phenotype
Proteins
443 Citations (Scopus)

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X

Lindor, N. M., Rabe, K., Petersen, G. M., Haile, R., Casey, G., Baron, J., Gallinger, S., Bapat, B., Aronson, M., Hopper, J., Jass, J., LeMarchand, L., Grove, J., Potter, J., Newcomb, P., Terdiman, J. P., Conrad, P., Moslein, G., Goldberg, R., Ziogas, A. & 6 others, Anton-Culver, H., De Andrade, M., Siegmund, K., Thibodeau, S. N., Boardman, L. A. & Seminara, D., Apr 27 2005, In : Journal of the American Medical Association. 293, 16, p. 1979-1985 7 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Colorectal Neoplasms
DNA Mismatch Repair
Incidence
Neoplasms

Mendelian and Mitochondrial Inheritance, Gene Identification, and Clinical Testing

Michels, V. V., Thibodeau, S. N. & Thorland, E. C., 2005, Peripheral Neuropathy. Elsevier Inc., Vol. 2. p. 1545-1560 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mitochondrial Genes
113 Citations (Scopus)

Nonparametric tests of association of multiple genes with human disease

Schaid, D. J., McDonnell, S. K., Hebbring, S. J., Cunningham, J. M. & Thibodeau, S. N., May 2005, In : American Journal of Human Genetics. 76, 5, p. 780-793 14 p.

Research output: Contribution to journalArticle

Genes
Guidelines
Nonparametric Statistics
Genetic Markers
Case-Control Studies
20 Citations (Scopus)

Polymorphisms in the 5α reductase type 2 gene and urologic measures of BPH

Roberts, R. O., Bergstralh, E. J., Farmer, S. A., Jacobson, D. J., McGree, M. E., Hebbring, S. J., Cunningham, J. M., Anderson, S. A., Thibodeau, S. N., Lieber, M. M. & Jacobsen, S. J., Mar 1 2005, In : Prostate. 62, 4, p. 380-387 8 p.

Research output: Contribution to journalArticle

Prostatic Hyperplasia
Oxidoreductases
Genotype
Prostate
Genes
11 Citations (Scopus)

Robust multipoint identical-by-descent mapping for affected relative pairs

Schaid, D. J., Sinnwell, J. P. & Thibodeau, S. N., Jan 2005, In : American Journal of Human Genetics. 76, 1, p. 128-138 11 p.

Research output: Contribution to journalArticle

Chromosomes
Genetic Epistasis
Information Storage and Retrieval
Genetic Models
Prostatic Neoplasms
22 Citations (Scopus)

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

Klein, C. J., Wu, Y., Kruckeberg, K. E., Hebbring, S. J., Anderson, S. A., Cunningham, J. M., Dyck, P. J. B., Klein, D. M., Thibodeau, S. N. & Dyck, P. J., Jul 2005, In : Journal of Neurology, Neurosurgery and Psychiatry. 76, 7, p. 1022-1024 3 p.

Research output: Contribution to journalArticle

Hereditary Sensory and Autonomic Neuropathies
Mutation
Foot
Foot Injuries
Restless Legs Syndrome
80 Citations (Scopus)

Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome

Baudhuin, L. M., Burgart, L. J., Leontovich, O. & Thibodeau, S. N., Sep 2005, In : Familial Cancer. 4, 3, p. 255-265 11 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Microsatellite Instability
DNA Mismatch Repair
Immunohistochemistry
Colonic Neoplasms
2004
35 Citations (Scopus)

Androgen Receptor Gene Polymorphisms and Increased Risk of Urologic Measures of Benign Prostatic Hyperplasia

Roberts, R. O., Bergstralh, E. J., Cunningham, J. M., Hebbring, S. J., Thibodeau, S. N., Lieber, M. M. & Jacobsen, S. J., Feb 1 2004, In : American Journal of Epidemiology. 159, 3, p. 269-276 8 p.

Research output: Contribution to journalArticle

Androgen Receptors
Prostatic Hyperplasia
Prostate-Specific Antigen
Genes
Lower Urinary Tract Symptoms

An interactive strategy for the accurate characterization of transthyretin variants using combined proteomic and genomic technologies

Zeldenrust, S. R., Bergen, H. R., Nepomuceno, A. I., Butz, M. L., Snow, D. S., Dyck, P. J., Dyck, P. J. B., Klein, C. J., O’brien, J. F., Thibodeau, S. N. & Muddiman, D. C., Jan 1 2004, Amyloid and Amyloidosis. CRC Press, p. 329-331 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Prealbumin
Proteomics
Technology
276 Citations (Scopus)

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

Domingo, E., Laiho, P., Ollikainen, M., Pinto, M., Wang, L., French, A. J., Westra, J., Frebourg, T., Espín, E., Armengol, M., Hamelin, R., Yamamoto, H., Hofstra, R. M. W., Seruca, R., Lindblom, A., Peltomäki, P., Thibodeau, S. N., Aaltonen, L. A. & Schwartz, S., Sep 2004, In : Journal of Medical Genetics. 41, 9, p. 664-668 5 p.

Research output: Contribution to journalArticle

Genetic Testing
Colorectal Neoplasms
Costs and Cost Analysis
Germ-Line Mutation
Mutation
120 Citations (Scopus)

Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility loci

Schaid, D. J., Guenther, J. C., Christensen, G. B., Hebbring, S., Rosenow, C., Hilker, C. A., McDonnell, S. K., Cunningham, J. M., Slager, S. L., Blute, M. L. & Thibodeau, S. N., Dec 2004, In : American Journal of Human Genetics. 75, 6, p. 948-965 18 p.

Research output: Contribution to journalArticle

Microsatellite Repeats
Single Nucleotide Polymorphism
Prostatic Neoplasms
Genome
Chromosomes, Human, Pair 12