• 44957 Citations
  • 100 Scopus h-Index
1978 …2021
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Research Output 1978 2019

  • 44957 Citations
  • 100 Scopus h-Index
  • 487 Article
  • 4 Chapter
  • 3 Comment/debate
  • 1 Review article
2004
120 Citations (Scopus)

Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

Nakagawa, H., Lockman, J. C., Frankel, W. L., Hampel, H., Steenblock, K., Burgart, L. J., Thibodeau, S. N. & De La Chapelle, A., Jul 15 2004, In : Cancer Research. 64, 14, p. 4721-4727 7 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Coloring Agents
Mutation
Genes
Neoplasms
26 Citations (Scopus)

Molecular biology of squamous cell carcinoma of the anus: A comparison of HIV-positive and HIV-negative patients

Gervaz, P., Hahnloser, D., Wolff, B. G., Anderson, S. A., Cunningham, J. M., Beart, R. W., Klipfel, A., Burgart, L. & Thibodeau, S. N., Dec 1 2004, In : Journal of Gastrointestinal Surgery. 8, 8, p. 1024-1031 8 p.

Research output: Contribution to journalArticle

Anal Canal
Molecular Biology
Squamous Cell Carcinoma
HIV
Loss of Heterozygosity
167 Citations (Scopus)

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

Wang, L., Baudhuin, L. M., Boardman, L. A., Steenblock, K. J., Petersen, G. M., Halling, K. C., French, A. J., Johnson, R. A., Burgart, L. J., Rabe, K., Lindor, N. M. & Thibodeau, S. N., Jul 2004, In : Gastroenterology. 127, 1, p. 9-16 8 p.

Research output: Contribution to journalArticle

Polyps
Germ-Line Mutation
Colorectal Neoplasms
Mutation
Adenomatous Polyps
17 Citations (Scopus)

Pyrosequencing Technology as a Method for the Diagnosis of Multiple Endocrine Neoplasia Type 2

Kruckeberg, K. E. & Thibodeau, S. N., Mar 2004, In : Clinical Chemistry. 50, 3, p. 522-529 8 p.

Research output: Contribution to journalArticle

Multiple Endocrine Neoplasia Type 2a
Technology
Codon
DNA
Mutation
42 Citations (Scopus)

The role of defective mismatch repair in small bowel adenocarcinoma in celiac disease

Potter, D. D., Murray, J. A., Donohue, J. H., Burgart, L. J., Nagorney, D. M., Van Heerden, J. A., Plevak, M. F., Zinsmeister, A. R. & Thibodeau, S. N., Oct 1 2004, In : Cancer Research. 64, 19, p. 7073-7077 5 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Celiac Disease
Adenocarcinoma
Microsatellite Instability
Survival
2003
222 Citations (Scopus)

BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair

Wang, L., Cunningham, J. M., Winters, J. L., Guenther, J. C., French, A. J., Boardman, L. A., Burgart, L. J., McDonnell, S. K., Schaid, D. J. & Thibodeau, S. N., Sep 1 2003, In : Cancer Research. 63, 17, p. 5209-5212 4 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Colonic Neoplasms
Mutation
Germ-Line Mutation
Neoplasms
15 Citations (Scopus)

Candidate-gene association studies with pedigree data: Controlling for environmental covariates

Slager, S. L., Schaid, D. J., Wang, L. & Thibodeau, S. N., May 2003, In : Genetic Epidemiology. 24, 4, p. 273-283 11 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Pedigree
Gene Frequency
Case-Control Studies
Prostatic Neoplasms
54 Citations (Scopus)

Confirmation of linkage of prostate cancer aggressiveness with chromosome 19q

Slager, S. L., Schaid, D. J., Cunningham, J. M., McDonnell, S. K., Marks, A. F., Peterson, B. J., Hebbring, S. J., Anderson, S., French, A. J. & Thibodeau, S. N., Mar 1 2003, In : American Journal of Human Genetics. 72, 3, p. 759-762 4 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 19
Chromosomes
Neoplasms
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 7
70 Citations (Scopus)

Developments toward a complete micro-total analysis system for Duchenne muscular dystrophy diagnosis

Ferrance, J. P., Wu, Q., Giordano, B., Hernandez, C., Kwok, Y., Snow, K., Thibodeau, S. N. & Landers, J. P., Dec 19 2003, In : Analytica Chimica Acta. 500, 1-2, p. 223-236 14 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
systems analysis
Amplification
Polymerase Chain Reaction
Southern Blotting
73 Citations (Scopus)

Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age

Kakar, S., Burgart, L. J., Thibodeau, S. N., Rabe, K. G., Petersen, G. M., Goldberg, R. M. & Lindor, N. M., Mar 15 2003, In : Cancer. 97, 6, p. 1421-1427 7 p.

Research output: Contribution to journalArticle

Colorectal Neoplasms
Neoplasms
Descending Colon
Ascending Colon
Transverse Colon
39 Citations (Scopus)

Genome Linkage Screen for Prostate Cancer Susceptibility Loci: Results from the Mayo Clinic Familial Prostate Cancer Study

Cunningham, J. M., McDonnell, S. K., Marks, A., Hebbring, S., Anderson, S. A., Peterson, B. J., Slager, S. L., French, A., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Dec 1 2003, In : Prostate. 57, 4, p. 335-346 12 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Genome
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 6
Genetic Linkage
26 Citations (Scopus)

High Throughput Detection of Microsatellite Instability by Denaturing High-Performance Liquid Chromatography

Pan, K. F., Liu, W., Lu, Y. Y., Zhang, L., Li, Z. P., Lu, W. L., Thibodeau, S. N. & You, W. C., 2003, In : Human Mutation. 22, 5, p. 388-394 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
High Pressure Liquid Chromatography
Autoradiography
Microsatellite Repeats
Polymerase Chain Reaction
16 Citations (Scopus)

Luteinizing hormone β polymorphism and risk of familial and sporadic prostate cancer

Elkins, D. A., Yokomizo, A., Thibodeau, S. N., Schaid, D. J., Cunningham, J. M., Marks, A., Christensen, E., McDonnell, S. K., Slager, S. L., Peterson, B. J., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Tindall, D. J. & Liu, W., Jun 15 2003, In : Prostate. 56, 1, p. 30-36 7 p.

Research output: Contribution to journalArticle

Luteinizing Hormone
Prostatic Neoplasms
Genotype
Testosterone
Body Mass Index
42 Citations (Scopus)

Microsatellite instability in hereditary and sporadic breast cancers

Adem, C., Soderberg, C. L., Cunningham, J. M., Reynolds, C., Sebo, T. J., Thibodeau, S. N., Hartmann, L. C. & Jenkins, R. B., Nov 20 2003, In : International Journal of Cancer. 107, 4, p. 580-582 3 p.

Research output: Contribution to journalArticle

Microsatellite Instability
DNA Mismatch Repair
Breast Neoplasms
Carcinoma, Intraductal, Noninfiltrating
Mutation
187 Citations (Scopus)

Mutations in CHEK2 associated with prostate cancer risk

Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. J., Thibodeau, S. N. & Liu, W., Feb 1 2003, In : American Journal of Human Genetics. 72, 2, p. 270-280 11 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Mutation
DNA Damage
Transformed Cell Line
Frameshift Mutation
73 Citations (Scopus)

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type

Wang, Q., Mountmain, G., Ruano, E., Upadhyaya, M., Dudley, S., Liskay, R. M., Thibodeau, S. N. & Puisieux, A., Feb 2003, In : Human Genetics. 112, 2, p. 117-123 7 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
DNA Mismatch Repair
Microsatellite Instability
Mutation
45 Citations (Scopus)

No association of germline alteration of MSR1 with prostate cancer risk

Wang, L., McDonnell, S. K., Cunningham, J. M., Hebbring, S., Jacobsen, S. J., Cerhan, J. R., Slager, S. L., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Oct 1 2003, In : Nature Genetics. 35, 2, p. 128-129 2 p.

Research output: Contribution to journalArticle

Scavenger Receptors
Prostatic Neoplasms
Genes
Germ-Line Mutation
Neoplasm Genes
8 Citations (Scopus)

No fumarate hydratase (FH) mutations in hereditary prostate cancer.

Lehtonen, R., Kiuru, M., Rökman, A., Ikonen, T., Cunningham, J. M., Schaid, D. J., Matikainen, M., Nupponen, N. N., Karhu, A., Kallioniemi, O. P., Thibodeau, S. N., Schleutker, J. & Aaltonen, L. A., Mar 2003, In : Journal of Medical Genetics. 40, 3

Research output: Contribution to journalArticle

Neoplasm DNA
DNA Mutational Analysis
Fumarate Hydratase
Chromosomes, Human, Pair 1
Genetic Predisposition to Disease
27 Citations (Scopus)

The APC E1317Q Variant in Adenomatous Polyps and Colorectal Cancers

Hahnloser, D., Petersen, G. M., Rabe, K., Snow, K., Lindor, N. M., Boardman, L. A., Koch, B., Doescher, D., Wang, L., Steenblock, K. & Thibodeau, S. N., Oct 2003, In : Cancer Epidemiology Biomarkers and Prevention. 12, 10, p. 1023-1028 6 p.

Research output: Contribution to journalArticle

Adenomatous Polyps
Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Adenomatous Polyposis Coli
DNA Mismatch Repair
69 Citations (Scopus)

The gene for HMSN2C maps to 12q23-24: A region of neuromuscular disorders

Klein, C. J., Cunningham, J. M., Atkinson, E. J., Schaid, D. J., Hebbring, S. J., Anderson, S. A., Klein, D. M., Dyck, P. J. B., Litchy, W. J., Thibodeau, S. N. & Dyck, P. J., Apr 8 2003, In : Neurology. 60, 7, p. 1151-1156 6 p.

Research output: Contribution to journalArticle

Lod Score
Spinocerebellar Ataxias
Trinucleotide Repeats
Haplotypes
Genes
1463 Citations (Scopus)

Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer

Ribic, C. M., Sargent, D. J., Moore, M. J., Thibodeau, S. N., French, A. J., Goldberg, R. M., Hamilton, S. R., Laurent-Puig, P., Gryfe, R., Shepherd, L. E., Tu, D., Redston, M. & Gallinger, S., Jul 17 2003, In : New England Journal of Medicine. 349, 3, p. 247-257 11 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Adjuvant Chemotherapy
Fluorouracil
Colonic Neoplasms
Neoplasms
2002
87 Citations (Scopus)

Analysis of the RNASEL gene in familial and sporadic prostate cancer

Wang, L., McDonnell, S. K., Elkins, D. A., Slager, S. L., Christensen, E., Marks, A. F., Cunningham, J. M., Peterson, B. J., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., 2002, In : American Journal of Human Genetics. 71, 1, p. 116-123 8 p.

Research output: Contribution to journalArticle

Genes
Odds Ratio
Confidence Intervals
Prostatic Neoplasms
Pyridinolcarbamate
9 Citations (Scopus)

An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1

Hutter, P., Wijnen, J., Rey-Berthod, C., Thiffault, I., Verkuijlen, P., Farber, D., Hamel, N., Bapat, B., Thibodeau, S. N., Burn, J., Wu, J., MacNamara, E., Heinimann, K., Chong, G. & Foulkes, W. D., 2002, In : Journal of Medical Genetics. 39, 5, p. 323-327 5 p.

Research output: Contribution to journalArticle

Haplotypes
Chromosomes
Mutation
Germ-Line Mutation
DNA Mismatch Repair
87 Citations (Scopus)

Caution on pedigree haplotype inference with software that assumes linkage equilibrium.

Schaid, D. J., McDonnell, S. K., Wang, L., Cunningham, J. M. & Thibodeau, S. N., Oct 2002, In : American Journal of Human Genetics. 71, 4, p. 992-995 4 p.

Research output: Contribution to journalArticle

Genetic Techniques
Linkage Disequilibrium
Pedigree
Haplotypes
Software
585 Citations (Scopus)

Immunohistochemistry versus microsatellite instability testing in phenotyping coloreetal tumors

Lindor, N. M., Burgart, L. J., Leontovich, O., Goldberg, R. M., Cunningham, J. M., Sargent, D. J., Walsh-Vockley, C., Petersen, G. M., Walsh, M. D., Leggett, B. A., Young, J. P., Barker, M. A., Jass, J. R., Hopper, J., Gallinger, S., Bapat, B., Redston, M. & Thibodeau, S. N., Feb 15 2002, In : Journal of Clinical Oncology. 20, 4, p. 1043-1048 6 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Immunohistochemistry
Neoplasms
Colorectal Neoplasms
DNA Mismatch Repair

Lack of referral bias in genetic studies of prostate cancer [8]

Jacobsen, S. J., Thibodeau, S. N., McDonnell, S. K., Peterson, B. J., Bergstralh, E. J., Schaid, D. J. & Blute, M. L., Sep 2002, In : Epidemiology. 13, 5, p. 612-613 2 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Referral and Consultation
15 Citations (Scopus)

Origin of adenocarcinoma in a transplanted liver determined by microsatellite analysis

Kakar, S., Burgart, L. J., Charlton, M. R., Saito Loftus, Y. A., Halling, K. & Thibodeau, S. N., 2002, In : Human Pathology. 33, 4, p. 435-436 2 p.

Research output: Contribution to journalArticle

Microsatellite Repeats
Adenocarcinoma
Tissue Donors
Liver
DNA
2001
39 Citations (Scopus)

Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer

Bock, C. H., Cunningham, J. M., McDonnell, S. K., Schaid, D. J., Peterson, B. J., Pavlic, R. J., Schroeder, J. J., Klein, J., French, A. J., Marks, A., Thibodeau, S. N., Lange, E. M. & Cooney, K. A., 2001, In : American Journal of Human Genetics. 68, 3, p. 795-801 7 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Chromosomes, Human, Pair 20
14 Citations (Scopus)

A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair

Boardman, L. A., Schmidt, S., Lindor, N. M., Burgart, L. J., Cunningham, J. M., Price-Troska, T., Snow, K., Ahlquist, D. A. & Thibodeau, S. N., 2001, In : Genes Chromosomes and Cancer. 30, 2, p. 181-186 6 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Germ-Line Mutation
Colorectal Neoplasms
Adenomatous Polyposis Coli
Hereditary Nonpolyposis Colorectal Neoplasms
17 Citations (Scopus)

DNA mismatch repair genes hMLH1, hMSH2, and hMSH6 are not inactivated in bronchioloalveolar carcinomas of the lung

Aubry, M. C., Halling, K. C., Myers, J. L., Tazelaar, H. D., Yang, P. & Thibodeau, S. N., Dec 1 2001, In : Cancer. 92, 11, p. 2898-2901 4 p.

Research output: Contribution to journalArticle

Bronchiolo-Alveolar Adenocarcinoma
DNA Mismatch Repair
Lung
Genes
Tumor Suppressor Genes

Gene symbol: HFE Disease: Hereditary hemochromatosis

Kruckeberg, K. E., Sundsbak, J. L., Doescher, D. C. & Thibodeau, S. N., 2001, In : Human Genetics. 108, 3, p. 277 1 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Hemochromatosis
Genes
36 Citations (Scopus)

hMLH1 and hMSH2 expression in human hepatocellular carcinoma.

Wang, L., Bani-Hani, A., Montoya, D. P., Roche, P. C., Thibodeau, S. N., Burgart, L. J. & Roberts, L. R., Sep 2001, In : International Journal of Oncology. 19, 3, p. 567-570 4 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Hepatocellular Carcinoma
DNA Mismatch Repair
Colorectal Neoplasms
Carcinogenesis
20 Citations (Scopus)

Regression models for linkage heterogeneity applied to familial prostate cancer

Schaid, D. J., McDonnell, S. K. & Thibodeau, S. N., 2001, In : American Journal of Human Genetics. 68, 5, p. 1189-1196 8 p.

Research output: Contribution to journalArticle

Pedigree
Inborn Genetic Diseases
Information Storage and Retrieval
Sample Size
Prostatic Neoplasms
83 Citations (Scopus)

Role of HPC2/ELAC2 in hereditary prostate cancer

Wang, L., McDonnell, S. K., Elkins, D. A., Slager, S. L., Christensen, E., Marks, A. F., Cunningham, J. M., Peterson, B. J., Jacobsen, S. J., Cerhan, J. R., Blute, M. L., Schaid, D. J. & Thibodeau, S. N., Aug 1 2001, In : Cancer Research. 61, 17, p. 6494-6499 6 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Germ-Line Mutation
Nonsense Codon
Genetic Predisposition to Disease
Genes
269 Citations (Scopus)

The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas

Cunningham, J. M., Kim, C. Y., Christensen, E. R., Tester, D. J., Parc, Y., Burgart, L. J., Halling, K. C., McDonnell, S. K., Schaid, D. J., Vockley, C. W., Kubly, V., Nelson, H., Michels, V. V. & Thibodeau, S. N., 2001, In : American Journal of Human Genetics. 69, 4, p. 780-790 11 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Colorectal Neoplasms
Microsatellite Instability
Germ-Line Mutation
Mutation
78 Citations (Scopus)

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - Results of an international collaborative study

Müller, W., Burgart, L. J., Krause-Paulus, R., Thibodeau, S. N., Almeida, M., Edmonston, T. B., Boland, C. R., Sutter, C., Jass, J. R., Lindblom, A., Lubinski, J., Macdermot, K., Sanders, D. S. A., Morreau, H., Müller, A., Oliani, C., Orntoft, T., De Leon, M. P., Rosty, C., Rodriguez-Bigas, M. & 5 others, Rüschoff, J., Ruszkiewicz, A., Sabourin, J., Salovaara, R. & Möslein, G., 2001, In : Familial Cancer. 1, 2, p. 87-92 6 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Immunohistochemistry
Staining and Labeling
DNA Mismatch Repair
Colorectal Neoplasms
2000
29 Citations (Scopus)

Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women

Boardman, L. A., Pittelkow, M. R., Couch, F. J., Schaid, D. J., McDonnell, S. K., Burgart, L. J., Ahlquist, D. A., Carney, J. A., Schwartz, D. I., Thibodeau, S. N. & Hartmann, L. C., 2000, In : Medicine. 79, 5, p. 293-298 6 p.

Research output: Contribution to journalArticle

Pigmentation
Peutz-Jeghers Syndrome
Breast Neoplasms
Neoplasms
Mutation
52 Citations (Scopus)

BRCA1 and BRCA2 have a limited role in familial prostate cancer

Sinclair, C. S., Berry, R., Schaid, D. J., Thibodeau, S. N. & Couch, F. J., Mar 1 2000, In : Cancer Research. 60, 5, p. 1371-1375 5 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Mutation
Breast Neoplasms
Neoplasm Genes
Missense Mutation
472 Citations (Scopus)

Colorectal cancer screening by detection of altered human DNA in stool: Feasibility of a multitarget assay panel

Ahlquist, D. A., Skoletsky, J. E., Boynton, K. A., Harrington, J. J., Mahoney, D. W., Pierceall, W. E., Thibodeau, S. N. & Shuber, A. P., 2000, In : Gastroenterology. 119, 5, p. 1219-1227 9 p., 89526.

Research output: Contribution to journalArticle

Early Detection of Cancer
Colorectal Neoplasms
Adenoma
DNA
Neoplasms
14 Citations (Scopus)

Differential expression and allelotyping of the p73 gene in neuroblastoma.

Liu, W., Mai, M., Yokomizo, A., Qian, C., Tindall, D. J., Smith, D. I. & Thibodeau, S. N., Jan 2000, In : International Journal of Oncology. 16, 1, p. 181-185 5 p.

Research output: Contribution to journalArticle

Neuroblastoma
Genes
Tumor Suppressor Genes
Alleles
DNA Copy Number Variations
199 Citations (Scopus)

Evidence for a prostate cancer-susceptibility locus on chromosome 20

Berry, R., Schroeder, J. J., French, A. J., McDonnell, S. K., Peterson, B. J., Cunningham, J. M., Thibodeau, S. N. & Schaid, D. J., 2000, In : American Journal of Human Genetics. 67, 1, p. 82-91 10 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 20
Prostatic Neoplasms
Pedigree
Chromosomes
Genes
101 Citations (Scopus)

Genetic heterogeneity in Peutz-Jeghers syndrome

Boardman, L. A., Couch, F. J., Burgart, L. J., Schwartz, D., Berry, R., McDonnell, S. K., Schaid, D. J., Hartmann, L. C., Schroeder, J. J., Stratakis, C. A. & Thibodeau, S. N., 2000, In : Human Mutation. 16, 1, p. 23-30 8 p.

Research output: Contribution to journalArticle

Peutz-Jeghers Syndrome
Genetic Heterogeneity
Mutation
Genes
Hyperpigmentation
28 Citations (Scopus)
Hereditary Nonpolyposis Colorectal Neoplasms
Adenomatous Polyposis Coli
Genetic Testing
Informed Consent
Colonic Neoplasms
56 Citations (Scopus)

Higher risk of mismatch repair-deficient colorectal cancer in α1-antitrypsin deficiency carriers and cigarette smokers

Yang, P., Cunningham, J. M., Halling, K. C., Lesnick, T. G., Burgart, L. J., Wiegert, E. M., Christensen, E. R., Lindor, N. M., Katzmann, J. A. & Thibodeau, S. N., 2000, In : Molecular Genetics and Metabolism. 71, 4, p. 639-645 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
DNA Mismatch Repair
Tobacco Products
Microsatellite Repeats
Colorectal Neoplasms
78 Citations (Scopus)

hMSH6 alterations in patients with microsatellite instability-low colorectal cancer

Parc, Y. R., Halling, K. C., Wang, L., Christensen, E. R., Cunningham, J. M., French, A. J., Burgart, L. J., Price-Troska, T. L., Roche, P. C. & Thibodeau, S. N., Apr 15 2000, In : Cancer Research. 60, 8, p. 2225-2231 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Colorectal Neoplasms
Phenotype
Mutation
DNA Mismatch Repair
77 Citations (Scopus)

Iron overload in cirrhosis - HFE genotypes and outcome after liver transplantation

Brandhagen, D. J., Alvarez, W., Therneau, T. M., Kruckeberg, K. E., Thibodeau, S. N., Ludwig, J. & Porayko, M. K., 2000, In : Hepatology. 31, 2, p. 456-460 5 p.

Research output: Contribution to journalArticle

Iron Overload
Liver Transplantation
Fibrosis
Genotype
Liver
49 Citations (Scopus)

Isolated supravalvular aortic stenosis: Functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Urbán, Z., Michels, V. V., Thibodeau, S. N., Davis, E. C., Bonnefont, J. P., Munnich, A., Eyskens, B., Gewillig, M., Devriendt, K. & Boyd, C. D., 2000, In : Human Genetics. 106, 6, p. 577-588 12 p.

Research output: Contribution to journalArticle

Supravalvular Aortic Stenosis
Haploinsufficiency
Elastin
Nonsense Codon
Mutation
80 Citations (Scopus)

Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer

Berry, R., Schaid, D. J., Smith, J. R., French, A. J., Schroeder, J. J., McDonnell, S. K., Peterson, B. J., Wang, Z. Y., Carpten, J. D., Roberts, S. G., Tester, D. J., Blute, M. L., Trent, J. M. & Thibodeau, S. N., 2000, In : American Journal of Human Genetics. 66, 2, p. 539-546 8 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 1
Prostatic Neoplasms
Brain Neoplasms
Inborn Genetic Diseases
Microsatellite Repeats
76 Citations (Scopus)

Microsatellite instability and hMLH1/hMSH2 expression in young endometrial carcinoma patients: Associations with family history and histopathology

Parc, Y. R., Halling, K. C., Burgart, L. J., Mcdonnel, S. K., Schaid, D. J., Thibodeau, S. N. & Halling, A. C., 2000, In : International Journal of Cancer. 86, 1, p. 60-66 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Endometrial Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms
Proteins
383 Citations (Scopus)

Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling

Liu, W., Dong, X., Mai, M., Seelan, R. S., Taniguchi, K., Krishnadath, K. K., Halling, K. C., Cunningham, J. M., Qian, C., Christensen, E., Roche, P. C., Smith, D. I. & Thibodeau, S. N., Oct 2000, In : Nature Genetics. 26, 2, p. 146-147 2 p.

Research output: Contribution to journalArticle