• 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

Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn

Hutt, P. J., Donaldson, M. H., Khatri, J., Fairbanks, V. F., Hoyer, J., Thibodeau, S. N., Moxness, M. S., McMorrow, L. E., Green, M. M. & Jones, R. T., 1996, In : American Journal of Hematology. 52, 4, p. 305-309 5 p.

Research output: Contribution to journalArticle

8 Scopus citations

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

2 Scopus citations

Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas

Graham, R., Kerr, S. E., Butz, M. L., Thibodeau, S. N., Halling, K. C., Smyrk, T. C., Dina, M. A., Waugh, V. M. & Rumilla, K. M., Oct 1 2015, In : American Journal of Surgical Pathology. 39, 10, p. 1370-1376 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

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

24 Scopus citations

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

57 Scopus citations

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

Hagerman, R. J., Hull, C. E., Safanda, J. F., Carpenter, I., Staley, L. W., O'Connor, R. A., Seydel, C., Mazzocco, M. M. M., Snow, K., Thibodeau, S. N., Kuhl, D., Nelson, D. L., Caskey, C. T. & Taylor, A. K., 1994, In : American Journal of Medical Genetics. 51, 4, p. 298-308 11 p.

Research output: Contribution to journalArticle

168 Scopus citations

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry

Rosty, C., Walsh, M. D., Lindor, N. M., Thibodeau, S. N., Mundt, E., Gallinger, S., Aronson, M., Pollett, A., Baron, J. A., Pearson, S., Clendenning, M., Walters, R. J., Nagler, B. N., Crawford, W. J., Young, J. P., Winship, I., Win, A. K., Hopper, J. L., Jenkins, M. A. & Buchanan, D. D., 2014, In : Familial Cancer. 13, 4, p. 573-582 10 p.

Research output: Contribution to journalArticle

27 Scopus citations

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

26 Scopus citations

High-throughput processing to preserve viable cells: A precision medicine initiative cohort program workshop

Rasooly, R. S., Gossett, D. R., Henderson, M. K., Hubel, A. & Thibodeau, S. N., Aug 1 2017, In : Biopreservation and Biobanking. 15, 4, p. 341-343 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing

Zhang, P., Xia, J. H., Zhu, J., Gao, P., Tian, Y. J., Du, M., Guo, Y. C., Suleman, S., Zhang, Q., Kohli, M., Tillmans, L. S., Thibodeau, S. N., French, A. J., Cerhan, J. R., Wang, L. D., Wei, G. H. & Wang, L., Dec 1 2018, In : Nature Communications. 9, 1, 2022.

Research output: Contribution to journalArticle

9 Scopus citations

Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease

Jack, C. R. J., Petersen, R. C., Xu, Y. C., O'Brien, P. C., Waring, S. C., Tangalos, E. G., Smith, G. E., Ivnik, R. J., Thibodeau, S. N. & Kokmen, E., Mar 1998, In : Annals of Neurology. 43, 3, p. 303-310 8 p.

Research output: Contribution to journalArticle

147 Scopus citations

Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease

Reiman, E. M., Uecker, A., Caselli, R. J., Lewis, S., Bandy, D., De Leon, M. J., De Santi, S., Convit, A., Osborne, D., Weaver, A. & Thibodeau, S. N., Aug 1998, In : Annals of Neurology. 44, 2, p. 288-291 4 p.

Research output: Contribution to journalArticle

203 Scopus citations

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

37 Scopus citations

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

78 Scopus citations
6 Scopus citations

HOXB13 is a susceptibility gene for prostate cancer: Results from the International Consortium for Prostate Cancer Genetics (ICPCG)

Xu, J., Lange, E. M., Lu, L., Zheng, S. L., Wang, Z., Thibodeau, S. N., Cannon-Albright, L. A., Teerlink, C. C., Camp, N. J., Johnson, A. M., Zuhlke, K. A., Stanford, J. L., Ostrander, E. A., Wiley, K. E., Isaacs, S. D., Walsh, P. C., Maier, C., Luedeke, M., Vogel, W., Schleutker, J. & 30 others, Wahlfors, T., Tammela, T., Schaid, D. J., McDonnell, S. K., Derycke, M. S., Cancel-Tassin, G., Cussenot, O., Wiklund, F., Grönberg, H., Eeles, R., Easton, D., Kote-Jarai, Z., Whittemore, A. S., Hsieh, C. L., Giles, G. G., Hopper, J. L., Severi, G., Catalona, W. J., Mandal, D., Ledet, E., Foulkes, W. D., Hamel, N., Mahle, L., Moller, P., Powell, I., Bailey-Wilson, J. E., Carpten, J. D., Seminara, D., Cooney, K. A. & Isaacs, W. B., Jan 2013, In : Human Genetics. 132, 1, p. 5-14 10 p.

Research output: Contribution to journalArticle

102 Scopus citations

Human colon cancer profiles show differential microRNA expression depending on mismatch repair status and are characteristic of undifferentiated proliferative states

Sarver, A. L., French, A. J., Borralho, P. M., Thayanithy, V., Oberg, A. L., Silverstein, K. A. T., Morlan, B. W., Riska, S. M., Boardman, L. A., Cunningham, J. M., Subramanian, S., Wang, L., Smyrk, T. C., Rodrigues, C. M. P., Thibodeau, S. N. & Steer, C. J., Nov 18 2009, In : BMC Cancer. 9, 401.

Research output: Contribution to journalArticle

249 Scopus citations

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

91 Scopus citations

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability

Cunningham, J. M., Christensen, E. R., Tester, D. J., Kim, C. Y., Roche, P. C., Burgart, L. J. & Thibodeau, S. N., Aug 1 1998, In : Cancer Research. 58, 15, p. 3455-3460 6 p.

Research output: Contribution to journalArticle

715 Scopus citations

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability; Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

Cunningham, J. M., Christensen, E. R., Tester, D. J., Kim, C. Y., Roche, P. C., Burgart, L. J., Thibodeau, S. N., Herman, J. G., Umar, A., Polyak, J., Graff, J. R., Ahuja, N., Issa, J. P., Markowitz, S., Willson, J. K., Hamilton, S. R., Kinzler, K. W., Kane, M. F., Kolodner, R. D., Vogelstein, B. & 3 others, Kunkel, T. A., Baylin, S. B. & Strauss, B. S., 1999, In : Chemtracts. 12, 10, p. 708-713 6 p.

Research output: Contribution to journalArticle

Identical precursors for serum transferrin and egg white conalbumin.

Thibodeau, S. N., Lee, D. C. & Palmiter, R. D., Jun 10 1978, In : Journal of Biological Chemistry. 253, 11, p. 3771-3774 4 p.

Research output: Contribution to journalArticle

94 Scopus citations

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

Eeles, R. A., Olama, A. A. A., Benlloch, S., Saunders, E. J., Leongamornlert, D. A., Tymrakiewicz, M., Ghoussaini, M., Luccarini, C., Dennis, J., Jugurnauth-Little, S., Dadaev, T., Neal, D. E., Hamdy, F. C., Donovan, J. L., Muir, K., Giles, G. G., Severi, G., Wiklund, F., Gronberg, H., Haiman, C. A. & 124 others, Schumacher, F., Henderson, B. E., Le Marchand, L., Lindstrom, S., Kraft, P., Hunter, D. J., Gapstur, S., Chanock, S. J., Berndt, S. I., Albanes, D., Andriole, G., Schleutker, J., Weischer, M., Canzian, F., Riboli, E., Key, T. J., Travis, R. C., Campa, D., Ingles, S. A., John, E. M., Hayes, R. B., Pharoah, P. D. P., Pashayan, N., Khaw, K. T., Stanford, J. L., Ostrander, E. A., Signorello, L. B., Thibodeau, S. N., Schaid, D. J., Maier, C., Vogel, W., Kibel, A. S., Cybulski, C., Lubinski, J., Cannon-Albright, L., Brenner, H., Park, J. Y., Kaneva, R., Batra, J., Spurdle, A. B., Clements, J. A., Teixeira, M. R., Dicks, E., Lee, A., Dunning, A. M., Baynes, C., Conroy, D., Maranian, M. J., Ahmed, S., Govindasami, K., Guy, M., Wilkinson, R. A., Sawyer, E. J., Morgan, A., Dearnaley, D. P., Horwich, A., Huddart, R. A., Khoo, V. S., Parker, C. C., Van As, N. J., Woodhouse, C. J., Thompson, A., Dudderidge, T., Ogden, C., Cooper, C. S., Lophatananon, A., Cox, A., Southey, M. C., Hopper, J. L., English, D. R., Aly, M., Adolfsson, J., Xu, J., Zheng, S. L., Yeager, M., Kaaks, R., Diver, W. R., Gaudet, M. M., Stern, M. C., Corral, R., Joshi, A. D., Shahabi, A., Wahlfors, T., Tammela, T. L. J., Auvinen, A., Virtamo, J., Klarskov, P., Nordestgaard, B. G., Røder, M. A., Nielsen, S. F., Bojesen, S. E., Siddiq, A., Fitzgerald, L. M., Kolb, S., Kwon, E. M., Karyadi, D. M., Blot, W. J., Zheng, W., Cai, Q., McDonnell, S. K., Rinckleb, A. E., Drake, B., Colditz, G., Wokolorczyk, D., Stephenson, R. A., Teerlink, C., Muller, H., Rothenbacher, D., Sellers, T. A., Lin, H. Y., Slavov, C., Mitev, V., Lose, F., Srinivasan, S., Maia, S., Paulo, P., Lange, E., Cooney, K. A., Antoniou, A. C., Vincent, D., Bacot, F., Tessier, D. C., Kote-Jarai, Z. & Easton, D. F., Apr 2013, In : Nature Genetics. 45, 4, p. 385-391 7 p.

Research output: Contribution to journalArticle

346 Scopus citations

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

GECCO & CCFR, Mar 24 2015, In : Carcinogenesis. 36, 9, p. 999-1007 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set

Thibodeau, S. N., French, A. J., McDonnell, S. K., Cheville, J., Middha, S., Tillmans, L., Riska, S., Baheti, S., Larson, M. C., Fogarty, Z., Zhang, Y., Larson, N., Nair, A., O'Brien, D., Wang, L. & Schaid, D. J., Nov 27 2015, In : Nature Communications. 6, 8653.

Research output: Contribution to journalArticle

32 Scopus citations

Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis

Peters, U., Jiao, S., Schumacher, F. R., Hutter, C. M., Aragaki, A. K., Baron, J. A., Berndt, S. I., Bézieau, S., Brenner, H., Butterbach, K., Caan, B. J., Campbell, P. T., Carlson, C. S., Casey, G., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, L. S., Coetzee, G. A., Coetzee, S. G. & 56 others, Conti, D. V., Curtis, K. R., Duggan, D., Edwards, T., Fuchs, C. S., Gallinger, S., Giovannucci, E. L., Gogarten, S. M., Gruber, S. B., Haile, R. W., Harrison, T. A., Hayes, R. B., Henderson, B. E., Hoffmeister, M., Hopper, J. L., Hudson, T. J., Hunter, D. J., Jackson, R. D., Jee, S. H., Jenkins, M. A., Jia, W. H., Kolonel, L. N., Kooperberg, C., Küry, S., Lacroix, A. Z., Laurie, C. C., Laurie, C. A., Le Marchand, L., Lemire, M., Levine, D., Lindor, N. M., Liu, Y., Ma, J., Makar, K. W., Matsuo, K., Newcomb, P. A., Potter, J. D., Prentice, R. L., Qu, C., Rohan, T., Rosse, S. A., Schoen, R. E., Seminara, D., Shrubsole, M., Shu, X. O., Slattery, M. L., Taverna, D., Thibodeau, S. N., Ulrich, C. M., White, E., Xiang, Y., Zanke, B. W., Zeng, Y. X., Zhang, B., Zheng, W. & Hsu, L., Apr 2013, In : Gastroenterology. 144, 4

Research output: Contribution to journalArticle

193 Scopus citations

Identification of Lynch syndrome among patients with colorectal cancer

Moreira, L., Balaguer, F., Lindor, N. M., De La Chapelle, A., Hampel, H., Aaltonen, L. A., Hopper, J. L., Le Marchand, L., Gallinger, S., Newcomb, P. A., Haile, R., Thibodeau, S. N., Gunawardena, S., Jenkins, M. A., Buchanan, D. D., Potter, J. D., Baron, J. A., Ahnen, D. J., Moreno, V., Andreu, M. & 3 others, De Leon, M. P., Rustgi, A. K. & Castells, A., Oct 17 2012, In : JAMA - Journal of the American Medical Association. 308, 15, p. 1555-1565 11 p.

Research output: Contribution to journalArticle

245 Scopus citations

Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene

Tsai, M. S., Ledger, G. A., Khosla, S., Gharib, H. & Thibodeau, S. N., May 1994, In : Journal of Clinical Endocrinology and Metabolism. 78, 5, p. 1261-1264 4 p.

Research output: Contribution to journalArticle

47 Scopus citations

Identification of novel variants in colorectal cancer families by high-throughput exome sequencing

DeRycke, M. S., Gunawardena, S. R., Middha, S., Asmann, Y., Schaid, D. J., McDonnell, S. K., Riska, S. M., Eckloff, B. W., Cunningham, J. M., Fridley, B. L., Serie, D. J., Bamlet, W. R., Cicek, M., Jenkins, M. A., Duggan, D. J., Buchanan, D., Clendenning, M., Haile, R. W., Woods, M. O., Gallinger, S. N. & 7 others, Casey, G., Potter, J. D., Newcomb, P. A., Le Marchand, L., Lindor, N. M., Thibodeau, S. N. & Goode, E. L., Jul 2013, In : Cancer Epidemiology Biomarkers and Prevention. 22, 7, p. 1239-1251 13 p.

Research output: Contribution to journalArticle

26 Scopus citations

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

Eeles, R. A., Kote-Jarai, Z., Al Olama, A. A., Giles, G. G., Guy, M., Severi, G., Muir, K., Hopper, J. L., Henderson, B. E., Haiman, C. A., Schleutker, J., Hamdy, F. C., Neal, D. E., Donovan, J. L., Stanford, J. L., Ostrander, E. A., Ingles, S. A., John, E. M., Thibodeau, S. N., Schaid, D. J. & 81 others, Park, J. Y., Spurdle, A., Clements, J., Dickinson, J. L., Maier, C., Vogel, W., Dörk, T., Rebbeck, T. R., Cooney, K. A., Cannon-Albright, L., Chappuis, P. O., Hutter, P., Zeegers, M., Kaneva, R., Zhang, H. W., Lu, Y. J., Foulkes, W. D., English, D. R., Leongamornlert, D. A., Tymrakiewicz, M., Morrison, J., Ardern-Jones, A. T., Hall, A. L., O'Brien, L. T., Wilkinson, R. A., Saunders, E. J., Page, E. C., Sawyer, E. J., Edwards, S. M., Dearnaley, D. P., Horwich, A., Huddart, R. A., Khoo, V. S., Parker, C. C., Van As, N., Woodhouse, C. J., Thompson, A., Christmas, T., Ogden, C., Cooper, C. S., Southey, M. C., Lophatananon, A., Liu, J. F., Kolonel, L. N., Le Marchand, L., Wahlfors, T., Tammela, T. L., Auvinen, A., Lewis, S. J., Cox, A., Fitzgerald, L. M., Koopmeiners, J. S., Karyadi, D. M., Kwon, E. M., Stern, M. C., Corral, R., Joshi, A. D., Shahabi, A., McDonnell, S. K., Sellers, T. A., Pow-Sang, J., Chambers, S., Aitken, J., Gardiner, R. A., Batra, J., Kedda, M. A., Lose, F., Polanowski, A., Patterson, B., Serth, J., Meyer, A., Luedeke, M., Stefflova, K., Ray, A. M., Lange, E. M., Farnham, J., Khan, H., Slavov, C., Mitkova, A., Cao, G. & Easton, D. F., Oct 2009, In : Nature Genetics. 41, 10, p. 1116-1121 6 p.

Research output: Contribution to journalArticle

331 Scopus citations

Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

Zeng, C., Matsuda, K., Jia, W. H., Chang, J., Kweon, S. S., Xiang, Y. B., Shin, A., Jee, S. H., Kim, D. H., Zhang, B., Cai, Q., Guo, X., Long, J., Wang, N., Courtney, R., Pan, Z. Z., Wu, C., Takahashi, A., Shin, M. H., Matsuo, K. & 87 others, Matsuda, F., Gao, Y. T., Oh, J. H., Kim, S., Jung, K. J., Ahn, Y. O., Ren, Z., Li, H. L., Wu, J., Shi, J., Wen, W., Yang, G., Li, B., Ji, B. T., Gruber, S. B., Schumacher, F. R., Stenzel, S. L., Casey, G., Hopper, J. L., Jenkins, M. A., Kim, H. R., Jeong, J. Y., Park, J. W., Tajima, K., Cho, S. H., Kubo, M., Shu, X. O., Lin, D., Zeng, Y. X., Zheng, W., Brenner, H., Schoen, R. E., Küry, S., Baron, J. A., Berndt, S. I., Bezieau, S., Caan, B. J., Carlson, C. S., Chan, A. T., Chang-Claude, J., Chanock, S. J., Conti, D. V., Curtis, K., Duggan, D., Fuchs, C. S., Gallinger, S., Giovannucci, E. L., Haile, R. W., Harrison, T. A., Hayes, R. B., Hoffmeister, M., Hsu, L., Hudson, T. J., Hunter, D. J., Hutter, C. M., Jackson, R. D., Jiao, S., Le Marchand, L., Lemire, M., Lindor, N. M., Ma, J., Newcomb, P. A., Peters, U., Potter, J. D., Qu, C., Seminara, D., Slattery, M. L., Thibodeau, S. N., White, E., Zanke, B. W., Blalock, K., Campbell, P. T., Edlund, C. K., Figueiredo, J., Gauderman, W. J., Gong, J., Green, R. C., Harju, J. F., Jacobs, E. J., Li, L., Lin, Y., Manion, F. J., Moreno, V., Mukherjee, B., Raskin, L., Severi, G. & Thomas, D. C., Jun 1 2016, In : Gastroenterology. 150, 7, p. 1633-1645 13 p.

Research output: Contribution to journalArticle

42 Scopus citations

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

Ameri, A., Fairbanks, V. F., Yanik, G. A., Mahdi, F., Thibodeau, S. N., Mc Cormick, D. J., Boxer, L. A. & McDonagh, K. T., Sep 1 1999, In : Blood. 94, 5, p. 1825-1826 2 p.

Research output: Contribution to journalArticle

6 Scopus citations

Identification of transthyretin variants by sequential proteomic and genomic analysis

Bergen, H. R. B. III., Zeldenrust, S. R., 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., Sep 2004, In : Clinical Chemistry. 50, 9, p. 1544-1552 9 p.

Research output: Contribution to journalArticle

49 Scopus citations

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

Walsh, M. D., Buchanan, D. D., Pearson, S. A., Clendenning, M., Jenkins, M. A., Win, A. K., Walters, R. J., Spring, K. J., Nagler, B., Pavluk, E., Arnold, S. T., Goldblatt, J., George, J., Suthers, G. K., Phillips, K., Hopper, J. L., Jass, J. R., Baron, J. A., Ahnen, D. J., Thibodeau, S. N. & 5 others, Lindor, N. M., Parry, S., Walker, N. I., Rosty, C. & Young, J. P., May 2012, In : Modern Pathology. 25, 5, p. 722-730 9 p.

Research output: Contribution to journalArticle

53 Scopus citations

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

609 Scopus citations

Incorporating functional annotations for fine-mapping causal variants in a bayesian framework using summary statistics

Chen, W., McDonnell, S. K., Thibodeau, S. N., Tillmans, L. S. & Schaid, D. J., Nov 1 2016, In : Genetics. 204, 3, p. 933-958 26 p.

Research output: Contribution to journalArticle

15 Scopus citations

Increased risk for cancer in patients with the Peutz-Jeghers syndrome

Boardman, L. A., Thibodeau, S. N., Schaid, D. J., Lindor, N. M., McDonnell, S. K., Burgart, L. J., Ahlquist, D. A., Podratz, K. C., Pittelkow, M. & Hartmann, L. C., Jun 1 1998, In : Annals of Internal Medicine. 128, 11, p. 896-899 4 p.

Research output: Contribution to journalArticle

343 Scopus citations

Integrated analysis of genome-wide copy number alterations and gene expression in microsatellite stable, CpG island methylator phenotype-negative colon cancer

Loo, L. W. M., Tiirikainen, M., Cheng, I., Lum-Jones, A., Seifried, A., Church, J. M., Gryfe, R., Weisenberger, D. J., Lindor, N. M., Gallinger, S., Haile, R. W., Duggan, D. J., Thibodeau, S. N., Casey, G. & Le Marchand, L., May 2013, In : Genes Chromosomes and Cancer. 52, 5, p. 450-466 17 p.

Research output: Contribution to journalArticle

39 Scopus citations

Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations

Sheth, H., Northwood, E., Ulrich, C. M., Scherer, D., Elliott, F., Barrett, J. H., Forman, D., Roland Wolf, C., Smith, G., Jackson, M. S., Santibanez-Koref, M., Haile, R., Casey, G., Jenkins, M., Win, A. K., Hopper, J. L., Le Marchand, L., Lindor, N. M., Thibodeau, S. N., Potter, J. D. & 2 others, Burn, J. & Timothy Bishop, D., Feb 1 2018, In : PLoS One. 13, 2, e0192223.

Research output: Contribution to journalArticle

2 Scopus citations

Investigating the possible causal role of coffee consumption with prostate cancer risk and progression using Mendelian randomization analysis

PRACTICAL Consortium, Jan 15 2017, In : International Journal of Cancer. 140, 2, p. 322-328 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

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.

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79 Scopus citations

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.

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45 Scopus citations

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.

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51 Scopus citations

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)

Yoon, H. H., Tougeron, D., Shi, Q. D., Alberts, S. R., Mahoney, M. R., Nelson, G. D., Nair, S. G., Thibodeau, S. N., Goldberg, R. M., Sargent, D. J. & Sinicrope, F. A., Jun 1 2014, In : Clinical Cancer Research. 20, 11, p. 3033-3043 11 p.

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74 Scopus citations

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.

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Large-scale transcriptome-wide association study identifies new prostate cancer risk regions

The PRACTICAL Consortium, Dec 1 2018, In : Nature Communications. 9, 1, 4079.

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11 Scopus citations

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Eichler, E. E., Holden, J. J. A., Popovich, B. W., Reiss, A. L., Snow, K., Thibodeau, S. N., Richards, C. S., Ward, P. A. & Nelson, D. L., Sep 1994, In : Nature Genetics. 8, 1, p. 88-94 7 p.

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382 Scopus citations

Leukocyte DNA methylation signature differentiates pancreatic cancer patients from healthy controls

Pedersen, K. S., Bamlet, W. R., Oberg, A. L., De Andrade, M., Matsumoto, M. E., Tang, H., Thibodeau, S. N., Petersen, G. M. & Wang, L., 2011, In : PLoS One. 6, 3, e18223.

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52 Scopus citations

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.

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82 Scopus citations

Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome

Thibodeau, S. N., Dorkins, H. R., Faulk, K. R., Berry, R., Smith, A. C. M., Hagerman, R., King, A. & Davies, K. E., Jul 1988, In : Human Genetics. 79, 3, p. 219-227 9 p.

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8 Scopus citations

Linkage homogeneity near the fragile X locus in normal and fragile X families

Suthers, G. K., Mulley, J. C., Voelckel, M. A., Dahl, N., Väisänen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Schinzel, A., Carballo, M., Morris, C. P., Hopwood, J. J. & Sutherland, G. R., 1991, In : Genomics. 10, 3, p. 576-582 7 p.

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7 Scopus citations