• 46516 Citations
  • 101 Scopus h-Index
1978 …2021

Research output per year

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Research Output

  • 46516 Citations
  • 101 Scopus h-Index
  • 492 Article
  • 4 Chapter
  • 4 Comment/debate
  • 1 Review article

Linkage of nonspecific X-linked mental retardation to Xq21.31

Jedele, K. B., Michels, V. V., Schaid, D. J., Schowalter, K. V. & Thibodeau, S. N., 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 436-442 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus

Carpenter, N. J., Thibodeau, S. N. & Brown, W. T., 1991, In : American Journal of Medical Genetics. 38, 2-3, p. 349-353 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Loss of heterozygosity suggests multiple Genetic alterations in pheochromocytomas and medullary thyroid carcinomas

Khosla, S., Patel, V. M., Hay, I. D., Schaid, D. J., Grant, C. S., Van Heerden, J. A. & Thibodeau, S. N., May 1991, In : Journal of Clinical Investigation. 87, 5, p. 1691-1699 9 p.

Research output: Contribution to journalArticle

108 Scopus citations

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

444 Scopus citations

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

16 Scopus citations

Lymphocyte recruitment into the tumor site is altered in patients with MSI-H colon cancer

Drescher, K. M., Sharma, P., Watson, P., Gatalica, Z., Thibodeau, S. N. & Lynch, H. T., Sep 2009, In : Familial Cancer. 8, 3, p. 231-239 9 p.

Research output: Contribution to journalArticle

31 Scopus citations

Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry

Walsh, M. D., Buchanan, D. D., Cummings, M. C., Pearson, S. A., Arnold, S. T., Clendenning, M., Walters, R., McKeone, D. M., Spurdle, A. B., Hopper, J. L., Jenkins, M. A., Phillips, K. D., Suthers, G. K., George, J., Goldblatt, J., Muir, A., Tucker, K., Pelzer, E., Gattas, M. R., Woodall, S. & 11 others, Parry, S., Macrae, F. A., Haile, R. W., Baron, J. A., Potter, J. D., Le Marchand, L., Bapat, B., Thibodeau, S. N., Lindor, N. M., McGuckin, M. A. & Young, J. P., Apr 1 2010, In : Clinical Cancer Research. 16, 7, p. 2214-2224 11 p.

Research output: Contribution to journalArticle

58 Scopus citations

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

Lynch, H. T., Riegert-Johnson, D. L., Snyder, C., Lynch, J. F., Hagenkord, J., Boland, C. R., Rhees, J., Thibodeau, S. N., Boardman, L. A., Davies, J., Kuiper, R. P., Hoogerbrugge, N. & Ligtenberg, M. J. L., Oct 2011, In : American Journal of Gastroenterology. 106, 10, p. 1829-1836 8 p.

Research output: Contribution to journalArticle

44 Scopus citations

Mapping Complex Traits in a Diversity Outbred F1 Mouse Population Identifies Germline Modifiers of Metastasis in Human Prostate Cancer

Winter, J. M., Gildea, D. E., Andreas, J. P., Gatti, D. M., Williams, K. A., Lee, M., Hu, Y., Zhang, S., Mullikin, J. C., Wolfsberg, T. G., McDonnell, S. K., Fogarty, Z. C., Larson, M. C., French, A. J., Schaid, D. J., Thibodeau, S. N., Churchill, G. A. & Crawford, N. P. S., Jan 25 2017, In : Cell Systems. 4, 1, p. 31-45.e6

Research output: Contribution to journalArticle

18 Scopus citations

Mapping of DNA markers close to the fraglle site on the human X chromosome at Xq25-3

Patterson, M., Kenwrick, S., Thibodeau, S. N., Faulk, K., Mattei, M. G., Mattei, J. F. & Davies, K. E., Mar 25 1987, In : Nucleic Acids Research. 15, 6, p. 2639-2651 13 p.

Research output: Contribution to journalArticle

31 Scopus citations
18 Scopus citations

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

Mendelian randomization study of body mass index and colorectal cancer risk

Thrift, A. P., Gong, J., Peters, U., Chang-Claude, J., Rudolph, A., Slattery, M. L., Chan, A. T., Locke, A. E., Kahali, B., Justice, A. E., Pers, T. H., Gallinger, S., Hayes, R. B., Baron, J. A., J.caan, B., Ogino, S., Berndt, S. I., Chanock, S. J., Casey, G., Haile, R. W. & 22 others, Du, M., Harrison, T. A., Thornquist, M., Duggan, D. J., Le Marchand, L., Lindor, N. M., Seminara, D., Song, M., Wu, K., Thibodeau, S. N., Cotterchio, M., Win, A. K., Jenkins, M. A., Hopper, J., Ulrich, C. M., Potter, J. D., Newcomb, P. A., Hoffmeister, M., Brenner, H., White, E., Hsu, L. & Campbell, P. T., Jul 1 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 7, p. 1024-1031 8 p.

Research output: Contribution to journalArticle

34 Scopus citations

Mendelian randomization study of height and risk of colorectal cancer

GIANT Consortium, May 27 2015, In : International Journal of Epidemiology. 44, 2, p. 662-672 11 p., dyv082.

Research output: Contribution to journalArticle

33 Scopus citations

Methylation markers for small cell lung cancer in peripheral blood leukocyte DNA

Wang, L., Aakre, J. A., Jiang, R., Marks, R. S., Wu, Y., Chen, J., Thibodeau, S. N., Pankratz, V. S. & Yang, P., Jun 2010, In : Journal of Thoracic Oncology. 5, 6, p. 778-785 8 p.

Research output: Contribution to journalArticle

45 Scopus citations

MGMT immunohistochemical expression and promoter methylation in human glioblastoma

Rodriguez, F. J., Thibodeau, S. N., Jenkins, R. B., Schowalter, K. V., Caron, B. L., O'Neill, B. P., David James, C., Passe, S., Slezak, J. & Giannini, C., Jan 2008, In : Applied Immunohistochemistry and Molecular Morphology. 16, 1, p. 59-65 7 p.

Research output: Contribution to journalArticle

107 Scopus citations

MGMT immunohistochemical expression and promoter methylation in human glioblastoma (Applied Immunohistochemistry and Molecular Morphology (2008) 16, (59-65))

Rodriguez, F. J., Thibodeau, S. N., Jenkins, R. B., Schowalter, K. V., Caron, B. L., O'Neill, B. P., David James, C., Passe, S., Slezak, J. & Giannini, C., May 2008, In : Applied Immunohistochemistry and Molecular Morphology. 16, 3, p. 307 1 p.

Research output: Contribution to journalArticle

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

49 Scopus citations

Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers

Halling, K. C., French, A. J., McDonnell, S. K., Burgart, L. J., Schaid, D. J., Peterson, B. J., Moon-Tasson, L., Mahoney, M. R., Sargent, D. J., O'Connell, M. J., Witzig, T. E., Farr, G. H., Goldberg, R. M. & Thibodeau, S. N., Aug 4 1999, In : Journal of the National Cancer Institute. 91, 15, p. 1295-1303 9 p.

Research output: Contribution to journalArticle

338 Scopus citations

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

76 Scopus citations

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer

Moslein, G., Tester, D. J., Lindor, N. M., Honchel, R., Cunningham, J. M., French, A. J., Halling, K. C., Schwab, M., Goretzki, P. & Thibodeau, S. N., Sep 1996, In : Human Molecular Genetics. 5, 9, p. 1245-1252 8 p.

Research output: Contribution to journalArticle

222 Scopus citations

Microsatellite instability in cancer of the proximal colon

Thibodeau, S. N., Bren, G. & Schaid, D. J., 1993, In : Science. 260, 5109, p. 816-819 4 p.

Research output: Contribution to journalArticle

2631 Scopus citations

Microsatellite instability in colorectal cancer: Different mutator phenotypes and the principal involvement of hMLH1

Thibodeau, S. N., French, A. J., Cunningham, J. M., Tester, D., Burgart, L. J., Roche, P. C., McDonnell, S. K., Schaid, D. J., Vockley, C. W., Michels, V. V., Farr, G. H. & O'Connell, M. J., Apr 15 1998, In : Cancer Research. 58, 8, p. 1713-1718 6 p.

Research output: Contribution to journalArticle

469 Scopus citations

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

42 Scopus citations

Microsatellite instability in keratoacanthoma

Halling, K. C., Honchel, R., Pittelkow, M. R. & Thibodeau, S. N., 1995, In : Cancer. 76, 10, p. 1765-1771 7 p.

Research output: Contribution to journalArticle

28 Scopus citations

Microsatellite instability in Muir-Torre syndrome

Honchel, R., Hailing, K. C., Schaid, D. J., Thibodeau, S. N. & Thibodeau, S. N., Mar 1 1994, In : Cancer Research. 54, 5, p. 1159-1163 5 p.

Research output: Contribution to journalArticle

167 Scopus citations

Minimum qualifications for directors: DNA-based genetic-testing laboratories [10]

Murphy, P., Amos, J., Carpenter, N., Fenwick, R., Hodes, M. E., Kelly, T., Matteson, K., Seltzer, W., Spence, J. E., Thibodeau, S. N., Venne, V., Wilson, V. & Zonana, J., 1992, In : American Journal of Human Genetics. 51, 4, p. 910-912 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

MiRNA expression in colon polyps provides evidence for a Multihit model of colon cancer

Oberg, A. L., French, A. J., Sarver, A. L., Subramanian, S., Morlan, B. W., Riska, S. M., Borralho, P. M., Cunningham, J. M., Boardman, L. A., Wang, L., Smyrk, T. C., Asmann, Y., Steer, C. J. & Thibodeau, S. N., 2011, In : PLoS One. 6, 6, e20465.

Research output: Contribution to journalArticle

110 Scopus citations

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

120 Scopus citations

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

64 Scopus citations

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

17 Scopus citations

Model-based prediction of defective DNA mismatch repair using clinicopathological variables in sporadic colon cancer patients

Sinicrope, F. A., Foster, N. R., Sargent, D. J., Thibodeau, S. N., Smyrk, T. C. & O'Connell, M. J., Apr 1 2010, In : Cancer. 116, 7, p. 1691-1698 8 p.

Research output: Contribution to journalArticle

16 Scopus citations
3 Scopus citations

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

27 Scopus citations

Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening

Poynter, J. N., Siegmund, K. D., Weisenberger, D. J., Long, T. I., Thibodeau, S. N., Lindor, N. M., Young, J., Jenkins, M. A., Hopper, J. L., Baron, J. A., Buchanan, D., Casey, G., Levine, A. J., Le Marchand, L., Gallinger, S., Bapat, B., Potter, J. D., Newcomb, P. A., Haile, R. W. & Laird, P. W., Nov 2008, In : Cancer Epidemiology Biomarkers and Prevention. 17, 11, p. 3208-3215 8 p.

Research output: Contribution to journalArticle

140 Scopus citations

Molecular-clinical correlations in children and adults with fragile X syndrome

Staley, L. W., Hull, C. E., Mazzocco, M. M. M., Thibodeau, S. N., Snow, K., Wilson, V. L., Taylor, A., McGavran, L., Weiner, D., Riddle, J., O'Connor, R. & Hagerman, R. J., 1993, In : American Journal of Diseases of Children. 147, 7, p. 723-726 4 p.

Research output: Contribution to journalArticle

22 Scopus citations

Molecular markers identify subtypes of stage III colon cancer associated with patient outcomes

Sinicrope, F. A., Shi, Q. D., Smyrk, T. C., Thibodeau, S. N., Dienstmann, R., Guinney, J., Bot, B. M., Tejpar, S., Delorenzi, M., Goldberg, R. M., Mahoney, M., Sargent, D. J. & Alberts, S. R., Jan 1 2015, In : Gastroenterology. 148, 1, p. 88-99 12 p.

Research output: Contribution to journalArticle

177 Scopus citations
35 Scopus citations

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Lindor, N. M., Jalal, S. M., Thibodeau, S. N., Bonde, D., Sauser, K. L. & Karnes, P. S., 1993, In : Clinical Genetics. 44, 4, p. 185-189 5 p.

Research output: Contribution to journalArticle

32 Scopus citations

Multilocus analysis of the fragile X syndrome

Brown, W. T., Gross, A., Chan, C., Jenkins, E. C., Mandel, J. L., Oberlé, I., Arveiler, B., Novelli, G., Thibodeau, S. N., Hagerman, R., Summers, K., Turner, G., White, B. N., Mulligan, L., Forster-Gibson, C., Holden, J. J. A., Zoll, B., Krawczak, M., Goonewardena, P., Gustavson, K. H. & 8 others, Pettersson, U., Holmgren, G., Schwartz, C., Howard-Peebles, P. N., Murphy, P., Breg, W. R., Veenema, H. & Carpenter, N. J., Mar 1988, In : Human Genetics. 78, 3, p. 201-205 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

Multiple Genetic Variant Association Testing by Collapsing and Kernel Methods With Pedigree or Population Structured Data

Schaid, D. J., Mcdonnell, S. K., Sinnwell, J. P. & Thibodeau, S. N., Jul 2013, In : Genetic Epidemiology. 37, 5, p. 409-418 10 p.

Research output: Contribution to journalArticle

56 Scopus citations

Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

Lindor, N. M., Smyrk, T. C., Buehler, S., Gunawardena, S. R., Thomas, B. C., Limburg, P. J., Kirmani, S. & Thibodeau, S. N., Dec 2012, In : Familial Cancer. 11, 4, p. 667-669 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortium

Kote-Jarai, Z., Easton, D. F., Stanford, J. L., Ostrander, E. A., Schleutker, J., Ingles, S. A., Schaid, D. J., Thibodeau, S. N., Dörk, T., Neal, D., Cox, A., Maier, C., Vogel, W., Guy, M., Muir, K., Lophatananon, A., Kedda, M. A., Spurdle, A., Steginga, S., John, E. M. & 31 others, Giles, G., Hopper, J., Chappuis, P. O., Hutter, P., Foulkes, W. D., Hamel, N., Salinas, C. A., Koopmeiners, J. S., Karyadi, D. M., Johanneson, B., Wahlfors, T., Tammela, T. L., Stern, M. C., Corral, R., McDonnell, S. K., Schürmann, P., Meyer, A., Kuefer, R., Leongamornlert, D. A., Tymrakiewicz, M., Liu, J. F., O'Mara, T., Gardiner, R. A., Aitken, J., Joshi, A. D., Severi, G., English, D. R., Southey, M., Edwards, S. M., Al Olama, A. A. & Eeles, R. A., Aug 2008, In : Cancer Epidemiology Biomarkers and Prevention. 17, 8, p. 2052-2061 10 p.

Research output: Contribution to journalArticle

121 Scopus citations

Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

The PRACTICAL Consortium, COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative, The Australian Prostate Cancer Bioresource, The UK Genetic Prostate Cancer Study Collaborators & The UK ProtecT Study Collaborators, Oct 1 2015, In : Human Molecular Genetics. 24, 19, p. 5589-5602 14 p., ddv203.

Research output: Contribution to journalArticle

42 Scopus citations

Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome

Chau, R., Dashti, S. G., Ait Ouakrim, D., Buchanan, D. D., Clendenning, M., Rosty, C., Winship, I. M., Young, J. P., Giles, G. G., Macrae, F. A., Boussioutas, A., Parry, S., Figueiredo, J. C., Levine, A. J., Ahnen, D. J., Casey, G., Haile, R. W., Gallinger, S., Le Marchand, L., Thibodeau, S. N. & 7 others, Lindor, N. M., Newcomb, P. A., Potter, J. D., Baron, J. A., Hopper, J. L., Jenkins, M. A. & Win, A. K., Jun 1 2016, In : International Journal of Epidemiology. 45, 3, p. 940-953 14 p.

Research output: Contribution to journalArticle

9 Scopus citations

Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers

Wang, X., Szabo, C., Qian, C., Amadio, P. G., Thibodeau, S. N., Cerhan, J. R., Petersen, G. M., Liu, W. & Couch, F. J., Feb 15 2008, In : Cancer Research. 68, 4, p. 971-975 5 p.

Research output: Contribution to journalArticle

30 Scopus citations

Mutational landscape of candidate genes in familial prostate cancer

Johnson, A. M., Zuhlke, K. A., Plotts, C., McDonnell, S. K., Middha, S., Riska, S. M., Schaid, D. J., Thibodeau, S. N., Douglas, J. A. & Cooney, K. A., 2014, In : Prostate. 74, 14, p. 1371-1378 8 p.

Research output: Contribution to journalArticle

13 Scopus citations

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

393 Scopus citations

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

194 Scopus citations

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

21 Scopus citations